#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
AAK1	22848	genome.wustl.edu	37	2	69752196	69752196	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:69752196C>T	ENST00000409085.4	-	10	1400	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	AAK1_ENST00000406297.3_Missense_Mutation_p.A342T|AAK1_ENST00000409068.1_Missense_Mutation_p.A342T	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	342					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TTTGCAGCTGCCTCACTGGCT	0.453																																																	0													131.0	130.0	130.0					2																	69752196		1954	4161	6115	SO:0001583	missense	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1024G>A	2.37:g.69752196C>T	ENSP00000386456:p.Ala342Thr		Q4ZFZ3|Q53RX6|Q9UPV4	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	p.A342T	ENST00000409085.4	37	c.1024	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671664	0.88348	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.78126	-1.15;-1.13;-1.13	5.5	5.5	0.81552	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.72894	2.215	0.80722	D	1	B;P;D	0.60575	0.409;0.729;0.988	B;B;P	0.52343	0.183;0.437;0.696	D	0.83859	0.0267	10	0.48119	T	0.1	-14.7477	18.5685	0.91126	0.0:1.0:0.0:0.0	.	342;342;342	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	T	342	ENSP00000386342:A342T;ENSP00000386456:A342T;ENSP00000385181:A342T	ENSP00000385181:A342T	A	-	1	0	AAK1	69605700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.639000	0.83342	2.861000	0.98227	0.655000	0.94253	GCA	AAK1	-	superfamily_Kinase-like_dom	ENSG00000115977		0.453	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	-	0.00	51	0	C	NM_014911		69752196	-1	tier1	-	no_errors	ENST00000409085	ensembl	human	known	74_37	missense	44.05	47	37	SNP	1.000	T
ABCA12	26154	genome.wustl.edu	37	2	215823015	215823015	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:215823015A>C	ENST00000272895.7	-	41	6322	c.6103T>G	c.(6103-6105)Ttc>Gtc	p.F2035V	ABCA12_ENST00000389661.4_Missense_Mutation_p.F1717V|AC072062.1_ENST00000607412.1_RNA|AC072062.1_ENST00000420134.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2035					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAAATGAAGTTTGTTACC	0.393																																					Ovarian(66;664 1488 5121 34295)												0													207.0	183.0	191.0					2																	215823015		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6103T>G	2.37:g.215823015A>C	ENSP00000272895:p.Phe2035Val		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F2035V	ENST00000272895.7	37	c.6103	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088475	0.76756	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87966	-2.32;-2.32	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	D	0.94029	0.8087	M	0.88512	2.96	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.65874	0.934;0.939	D	0.95066	0.8200	10	0.87932	D	0	.	15.9507	0.79835	1.0:0.0:0.0:0.0	.	2035;1717	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	V	2035;1717	ENSP00000272895:F2035V;ENSP00000374312:F1717V	ENSP00000272895:F2035V	F	-	1	0	ABCA12	215531260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.232000	0.73038	0.528000	0.53228	TTC	ABCA12	-	NULL	ENSG00000144452		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0.00	70	0	A	NM_173076		215823015	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	23.81	64	20	SNP	1.000	C
ABCA12	26154	genome.wustl.edu	37	2	215872568	215872568	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:215872568G>A	ENST00000272895.7	-	19	2694	c.2475C>T	c.(2473-2475)tcC>tcT	p.S825S	ABCA12_ENST00000389661.4_Silent_p.S507S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	825					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTTACATTGGACTTAATGA	0.343																																					Ovarian(66;664 1488 5121 34295)												0													74.0	69.0	70.0					2																	215872568		2203	4300	6503	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2475C>T	2.37:g.215872568G>A			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S825	ENST00000272895.7	37	c.2475	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0.00	44	0	G	NM_173076		215872568	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	silent	24.56	43	14	SNP	0.995	A
ABCC10	89845	genome.wustl.edu	37	6	43400126	43400126	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:43400126G>A	ENST00000372530.4	+	3	623	c.408G>A	c.(406-408)ttG>ttA	p.L136L	ABCC10_ENST00000244533.3_Silent_p.L93L|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	136					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCTTGGCCTTGGCCCTGGTAG	0.662																																																	0													54.0	53.0	53.0					6																	43400126		2203	4300	6503	SO:0001819	synonymous_variant	0			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.408G>A	6.37:g.43400126G>A			Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L136	ENST00000372530.4	37	c.408	CCDS56430.1	6																																																																																			ABCC10	-	NULL	ENSG00000124574		0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	-	0.00	34	0	G	NM_033450		43400126	+1	tier1	-	no_errors	ENST00000372530	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.975	A
ABHD8	79575	genome.wustl.edu	37	19	17405573	17405573	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:17405573C>T	ENST00000247706.3	-	3	1082	c.843G>A	c.(841-843)acG>acA	p.T281T	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	281							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCTCCAGCGCCGTAGGGCCCC	0.602																																					Ovarian(156;1368 2543 15275 41187)												0													75.0	60.0	65.0					19																	17405573		2203	4300	6503	SO:0001819	synonymous_variant	0			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.843G>A	19.37:g.17405573C>T			Q9HAE9	Silent	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.T281	ENST00000247706.3	37	c.843	CCDS12355.1	19																																																																																			ABHD8	-	pfam_AB_hydrolase_1	ENSG00000127220		0.602	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	-	0.00	20	0	C	NM_024527		17405573	-1	tier1	-	no_errors	ENST00000247706	ensembl	human	known	74_37	silent	21.43	22	6	SNP	0.620	T
ACVR1B	91	genome.wustl.edu	37	12	52380775	52380775	+	Intron	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:52380775G>A	ENST00000257963.4	+	7	1338				RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000415850.2_Missense_Mutation_p.G437E|ACVR1B_ENST00000542485.1_Intron|ACVR1B_ENST00000541224.1_Intron|ACVR1B_ENST00000426655.2_Intron	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB						activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CAGGATGCTGGATCACCCAAA	0.473																																																	0													145.0	141.0	143.0					12																	52380775		2203	4300	6503	SO:0001627	intron_variant	0				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1261+49G>A	12.37:g.52380775G>A			B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G437E	ENST00000257963.4	37	c.1310	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549625	0.27652	.	.	ENSG00000135503	ENST00000415850	D	0.82803	-1.65	4.06	4.06	0.47325	.	.	.	.	.	T	0.75466	0.3853	.	.	.	0.58432	D	0.999994	B	0.28552	0.215	B	0.31191	0.125	T	0.71283	-0.4639	7	.	.	.	.	13.3329	0.60500	0.0:0.0:1.0:0.0	.	437	P36896-3	.	E	437	ENSP00000397550:G437E	.	G	+	2	0	ACVR1B	50667042	0.002000	0.14202	0.002000	0.10522	0.012000	0.07955	1.006000	0.29847	2.003000	0.58678	0.563000	0.77884	GGA	ACVR1B	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000135503		0.473	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	-	0.00	45	0	G	NM_020328		52380775	+1	tier1	-	no_errors	ENST00000415850	ensembl	human	known	74_37	missense	50.70	35	36	SNP	0.008	A
ADA	100	genome.wustl.edu	37	20	43251252	43251252	+	Silent	SNP	C	C	T	rs562095440		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr20:43251252C>T	ENST00000372874.4	-	9	956	c.822G>A	c.(820-822)ccG>ccA	p.P274P	ADA_ENST00000464097.1_5'UTR|ADA_ENST00000537820.1_Silent_p.P250P|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	274			P -> L (in ADASCID; dbSNP:rs121908738). {ECO:0000269|PubMed:2166947}.		adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GCTCCGTGTCCGGCTTCCAGG	0.587									Adenosine Deaminase Deficiency				C|||	1	0.000199681	0.0	0.0	5008	,	,		18019	0.0		0.0	False		,,,				2504	0.001																0													56.0	54.0	55.0					20																	43251252		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.822G>A	20.37:g.43251252C>T			Q53F92|Q6LA59	Silent	SNP	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	p.P274	ENST00000372874.4	37	c.822	CCDS13335.1	20																																																																																			ADA	-	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	ENSG00000196839		0.587	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2	-	0.00	30	0	C	NM_000022		43251252	-1	tier1	-	no_errors	ENST00000372874	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.037	T
ADAM22	53616	genome.wustl.edu	37	7	87810916	87810916	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:87810916G>T	ENST00000265727.7	+	28	2584	c.2505G>T	c.(2503-2505)tgG>tgT	p.W835C	ADAM22_ENST00000315984.7_Missense_Mutation_p.W799C|ADAM22_ENST00000398204.4_Missense_Mutation_p.W799C|ADAM22_ENST00000398201.4_Missense_Mutation_p.W835C|ADAM22_ENST00000398209.3_Missense_Mutation_p.W799C			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	835					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTAACTCTTGGCAAGGTAGAG	0.418																																																	0													73.0	65.0	68.0					7																	87810916		1850	4104	5954	SO:0001583	missense	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2505G>T	7.37:g.87810916G>T	ENSP00000265727:p.Trp835Cys		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.W835C	ENST00000265727.7	37	c.2505	CCDS47637.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.63|19.63	3.863240|3.863240	0.71949|0.71949	.|.	.|.	ENSG00000008277|ENSG00000008277	ENST00000413139|ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	.|T;T;T;T;T;T;T	.|0.55234	.|4.43;3.71;4.13;4.17;4.22;3.81;0.53	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69061|0.69061	0.3069|0.3069	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	T|T	0.68462|0.68462	-0.5402|-0.5402	5|10	.|0.59425	.|D	.|0.04	.|.	20.004|20.004	0.97428|0.97428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|887;799;835;799	.|E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.|.;.;ADA22_HUMAN;.	S|C	164|799;835;835;799;799;802;193	.|ENSP00000381262:W799C;ENSP00000381260:W835C;ENSP00000265727:W835C;ENSP00000315900:W799C;ENSP00000381267:W799C;ENSP00000381261:W802C;ENSP00000396233:W193C	.|ENSP00000265727:W835C	A|W	+|+	1|3	0|0	ADAM22|ADAM22	87648852|87648852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GCA|TGG	ADAM22	-	NULL	ENSG00000008277		0.418	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0.00	15	0	G	NM_021723		87810916	+1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	T
ADAMTS12	81792	genome.wustl.edu	37	5	33576648	33576648	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:33576648T>G	ENST00000504830.1	-	19	3818	c.3483A>C	c.(3481-3483)gaA>gaC	p.E1161D	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1076D|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1161	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTTCTCTTTCTTCCCCTGAGC	0.463										HNSCC(64;0.19)																																							0													164.0	150.0	155.0					5																	33576648		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3483A>C	5.37:g.33576648T>G	ENSP00000422554:p.Glu1161Asp		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1161D	ENST00000504830.1	37	c.3483	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757146	0.49468	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61040	0.17;0.14	5.43	0.257	0.15574	.	0.651867	0.16598	N	0.207445	T	0.37348	0.1000	L	0.36672	1.1	0.80722	D	1	B;B	0.17465	0.02;0.022	B;B	0.16722	0.016;0.007	T	0.08186	-1.0734	10	0.14656	T	0.56	.	3.4727	0.07573	0.2817:0.1528:0.0:0.5655	.	1076;1161	P58397-3;P58397	.;ATS12_HUMAN	D	1161;1076	ENSP00000422554:E1161D;ENSP00000344847:E1076D	ENSP00000344847:E1076D	E	-	3	2	ADAMTS12	33612405	0.979000	0.34478	0.492000	0.27490	0.749000	0.42624	0.892000	0.28322	-0.082000	0.12640	0.533000	0.62120	GAA	ADAMTS12	-	NULL	ENSG00000151388		0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0.00	21	0	T	NM_030955		33576648	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.886	G
ADAMTS2	9509	genome.wustl.edu	37	5	178770946	178770946	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:178770946delT	ENST00000251582.7	-	2	457	c.356delA	c.(355-357)gacfs	p.D119fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.D119fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	119					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGGTGCAGGTCTCGGCCAAA	0.721																																																	0													14.0	17.0	16.0					5																	178770946		2191	4291	6482	SO:0001589	frameshift_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.356delA	5.37:g.178770946delT	ENSP00000251582:p.Asp119fs			Frame_Shift_Del	DEL	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.D119fs	ENST00000251582.7	37	c.356	CCDS4444.1	5																																																																																			ADAMTS2	-	pfam_Peptidase_M12B_N	ENSG00000087116		0.721	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1		0.00	12	0	T	NM_014244		178770946	-1	tier1		no_errors	ENST00000251582	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	-
ADAMTS9	56999	genome.wustl.edu	37	3	64644328	64644328	+	Silent	SNP	C	C	T	rs373657194	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:64644328C>T	ENST00000498707.1	-	4	1161	c.819G>A	c.(817-819)acG>acA	p.T273T	ADAMTS9_ENST00000295903.4_Silent_p.T273T|ADAMTS9_ENST00000459780.1_Silent_p.T273T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	273					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGTGTTGTCCGTCTTATTAC	0.443													C|||	35	0.00698882	0.0	0.0	5008	,	,		18504	0.001		0.0	False		,,,				2504	0.0348																0								C		1,4405	2.1+/-5.4	0,1,2202	254.0	246.0	248.0		819	-11.8	0.0	3		248	0,8600		0,0,4300	no	coding-synonymous	ADAMTS9	NM_182920.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		273/1936	64644328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.819G>A	3.37:g.64644328C>T			A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T273	ENST00000498707.1	37	c.819	CCDS2903.1	3																																																																																			ADAMTS9	-	NULL	ENSG00000163638		0.443	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0.00	30	0	C			64644328	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	silent	22.73	34	10	SNP	0.002	T
ADAMTSL3	57188	genome.wustl.edu	37	15	84581902	84581902	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:84581902C>G	ENST00000286744.5	+	16	1983	c.1759C>G	c.(1759-1761)Cgt>Ggt	p.R587G	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R587G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	587	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGCAGGTCCGTGAGGTGAA	0.602																																																	0													90.0	82.0	84.0					15																	84581902		2203	4300	6503	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1759C>G	15.37:g.84581902C>G	ENSP00000286744:p.Arg587Gly		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.R587G	ENST00000286744.5	37	c.1759	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015512	0.54468	.	.	ENSG00000156218	ENST00000286744	T	0.80824	-1.42	4.9	4.9	0.64082	.	0.070349	0.53938	D	0.000047	D	0.93174	0.7826	H	0.98048	4.135	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95101	0.8230	10	0.87932	D	0	.	13.1271	0.59363	0.16:0.84:0.0:0.0	.	587;587	P82987-2;P82987	.;ATL3_HUMAN	G	587	ENSP00000286744:R587G	ENSP00000286744:R587G	R	+	1	0	ADAMTSL3	82372906	1.000000	0.71417	0.100000	0.21137	0.343000	0.28985	4.242000	0.58714	2.246000	0.74042	0.563000	0.77884	CGT	ADAMTSL3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156218		0.602	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	-	0.00	29	0	C	NM_207517		84581902	+1	tier1	-	no_errors	ENST00000286744	ensembl	human	known	74_37	missense	30.36	39	17	SNP	1.000	G
ALLC	55821	genome.wustl.edu	37	2	3727512	3727512	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:3727512G>A	ENST00000252505.3	+	5	388	c.226G>A	c.(226-228)Gac>Aac	p.D76N		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	95					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.D76N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CCGGGGCTTCGACGTGGACGT	0.547										HNSCC(21;0.051)																																							1	Substitution - Missense(1)	large_intestine(1)											151.0	159.0	156.0					2																	3727512		2110	4215	6325	SO:0001583	missense	0			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.226G>A	2.37:g.3727512G>A	ENSP00000252505:p.Asp76Asn		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.D76N	ENST00000252505.3	37	c.226	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594759	0.86953	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	4.89	0.63831	Allantoicase domain (1);Galactose-binding domain-like (1);	0.089830	0.85682	D	0.000000	T	0.77718	0.4172	M	0.81497	2.545	0.45216	D	0.998227	D	0.76494	0.999	P	0.62885	0.908	T	0.80641	-0.1292	9	0.54805	T	0.06	-16.8727	14.4943	0.67674	0.0:0.0:0.8524:0.1476	.	95	Q8N6M5	ALLC_HUMAN	N	76	.	ENSP00000252505:D76N	D	+	1	0	ALLC	3705387	1.000000	0.71417	0.630000	0.29268	0.707000	0.40811	3.903000	0.56318	1.568000	0.49683	0.655000	0.94253	GAC	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	ENSG00000151360		0.547	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	-	0.00	58	0	G			3727512	+1	tier1	-	no_errors	ENST00000252505	ensembl	human	known	74_37	missense	39.53	52	34	SNP	0.948	A
AGAP1	116987	genome.wustl.edu	37	2	236945291	236945291	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:236945291G>A	ENST00000304032.8	+	14	2312	c.1732G>A	c.(1732-1734)Gcc>Acc	p.A578T	RNU7-127P_ENST00000458845.1_RNA|AGAP1_ENST00000428334.2_Missense_Mutation_p.A417T|AGAP1_ENST00000409538.1_Missense_Mutation_p.A790T|AGAP1_ENST00000336665.5_Missense_Mutation_p.A525T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGAGCGGGACGCCTGGGTCCA	0.542																																																	0													97.0	102.0	100.0					2																	236945291		2203	4300	6503	SO:0001583	missense	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1732G>A	2.37:g.236945291G>A	ENSP00000307634:p.Ala578Thr		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.A578T	ENST00000304032.8	37	c.1732	CCDS33408.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.944605|3.944605	0.73672|0.73672	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025;ENST00000418654	T;T;T;T|.	0.75821|.	-0.97;-0.97;-0.97;-0.97|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65709|0.65709	0.2717|0.2717	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	0.99;1.0|.	P;D|.	0.87578|.	0.655;0.998|.	T|T	0.62685|0.62685	-0.6802|-0.6802	10|5	0.22706|.	T|.	0.39|.	.|.	18.1563|18.1563	0.89692|0.89692	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	525;578|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	T|H	578;525;790;417|236;130	ENSP00000307634:A578T;ENSP00000338378:A525T;ENSP00000386897:A790T;ENSP00000411824:A417T|.	ENSP00000307634:A578T|.	A|R	+|+	1|2	0|0	AGAP1|AGAP1	236610030|236610030	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.977000|0.977000	0.68977|0.68977	5.521000|5.521000	0.67086|0.67086	2.355000|2.355000	0.79922|0.79922	0.655000|0.655000	0.94253|0.94253	GCC|CGC	AGAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000157985		0.542	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	-	0.00	95	0	G	NM_014914		236945291	+1	tier1	-	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	27.84	70	27	SNP	0.997	A
ALOX15B	247	genome.wustl.edu	37	17	7948301	7948301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:7948301delC	ENST00000380183.4	+	6	970	c.831delC	c.(829-831)agcfs	p.S277fs	ALOX15B_ENST00000380173.2_Frame_Shift_Del_p.S277fs|ALOX15B_ENST00000573359.1_Frame_Shift_Del_p.S277fs|ALOX15B_ENST00000572022.1_Frame_Shift_Del_p.S277fs	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	277	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTGGGACCAGCTTGCAGGCTG	0.602																																																	0													121.0	90.0	100.0					17																	7948301		2203	4300	6503	SO:0001589	frameshift_variant	0			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.831delC	17.37:g.7948301delC	ENSP00000369530:p.Ser277fs		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Frame_Shift_Del	DEL	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.L278fs	ENST00000380183.4	37	c.831	CCDS11128.1	17																																																																																			ALOX15B	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000179593		0.602	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2		0.00	71	0	C			7948301	+1	tier1		no_errors	ENST00000380183	ensembl	human	known	74_37	frame_shift_del	32.38	71	34	DEL	0.169	-
AMOTL2	51421	genome.wustl.edu	37	3	134086487	134086487	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:134086487C>T	ENST00000422605.2	-	3	1059	c.893G>A	c.(892-894)aGt>aAt	p.S298N	AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000514516.1_Missense_Mutation_p.S356N|AMOTL2_ENST00000513145.1_Missense_Mutation_p.S298N|AMOTL2_ENST00000249883.5_Missense_Mutation_p.S298N			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	298					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)		p.S298T(1)		endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCCTGGGCACTCACTGGCCC	0.672																																																	1	Substitution - Missense(1)	ovary(1)											31.0	34.0	33.0					3																	134086487		2203	4300	6503	SO:0001583	missense	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.893G>A	3.37:g.134086487C>T	ENSP00000409999:p.Ser298Asn		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.S298N	ENST00000422605.2	37	c.893		3	.	.	.	.	.	.	.	.	.	.	C	9.736	1.163590	0.21538	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.37	3.41	0.39046	.	1.563470	0.03426	N	0.207036	T	0.21186	0.0510	L	0.42245	1.32	0.09310	N	1	B;B;B	0.14012	0.006;0.006;0.009	B;B;B	0.13407	0.009;0.009;0.008	T	0.29088	-1.0023	10	0.16896	T	0.51	-2.9386	9.8339	0.40958	0.0:0.6994:0.2162:0.0843	.	298;298;356	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	N	298;298;356;298	ENSP00000249883:S298N;ENSP00000409999:S298N;ENSP00000424765:S356N;ENSP00000425475:S298N	ENSP00000249883:S298N	S	-	2	0	AMOTL2	135569177	0.000000	0.05858	0.012000	0.15200	0.742000	0.42306	0.225000	0.17757	1.384000	0.46424	0.462000	0.41574	AGT	AMOTL2	-	NULL	ENSG00000114019		0.672	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1		0.00	41	0	C	NM_016201		134086487	-1			no_errors	ENST00000249883	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.001	T
ANKLE2	23141	genome.wustl.edu	37	12	133331423	133331423	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:133331423T>G	ENST00000357997.5	-	2	567	c.478A>C	c.(478-480)Agt>Cgt	p.S160R	ANKLE2_ENST00000539605.1_Missense_Mutation_p.S98R|ANKLE2_ENST00000337516.5_Missense_Mutation_p.S160R	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	160					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGGCCCACACTGTAACCAAAA	0.542																																																	0													68.0	70.0	69.0					12																	133331423		1925	4133	6058	SO:0001583	missense	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.478A>C	12.37:g.133331423T>G	ENSP00000350686:p.Ser160Arg		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.S160R	ENST00000357997.5	37	c.478	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939308	0.52972	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.31769	1.92;1.91;1.48	5.62	1.8	0.24995	.	0.336022	0.39146	N	0.001459	T	0.34454	0.0898	M	0.70595	2.14	0.09310	N	1	D;P	0.54964	0.969;0.948	P;P	0.48921	0.595;0.467	T	0.22800	-1.0206	10	0.56958	D	0.05	-24.4762	4.8284	0.13428	0.1342:0.2553:0.0:0.6105	.	160;160	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	R	98;160;160	ENSP00000446268:S98R;ENSP00000350686:S160R;ENSP00000337651:S160R	ENSP00000337651:S160R	S	-	1	0	ANKLE2	131841496	0.029000	0.19370	0.001000	0.08648	0.760000	0.43138	1.802000	0.38853	0.064000	0.16427	0.529000	0.55759	AGT	ANKLE2	-	NULL	ENSG00000176915		0.542	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	-	0.00	39	0	T			133331423	-1	tier1	-	no_errors	ENST00000357997	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.006	G
ANKRD36C	400986	genome.wustl.edu	37	2	96601236	96601236	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:96601236G>A	ENST00000456556.1	-	24	1785	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A				Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	567							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCCTTCTCATGGCTGCTTTTG	0.358																																																	0																																										SO:0001819	synonymous_variant	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1701C>T	2.37:g.96601236G>A			C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A567	ENST00000456556.1	37	c.1701		2																																																																																			ANKRD36C	-	NULL	ENSG00000174501		0.358	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2		0.00	51	0	G	NM_001010914		96601236	-1			no_errors	ENST00000456556	ensembl	human	known	74_37	silent	9.68	56	6	SNP	0.000	A
ANKRD54	129138	genome.wustl.edu	37	22	38229062	38229062	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:38229062G>A	ENST00000215941.4	-	6	815	c.623C>T	c.(622-624)gCt>gTt	p.A208V	ANKRD54_ENST00000411961.2_Missense_Mutation_p.A192V|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.A88V|ANKRD54_ENST00000609454.1_Intron	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	208	LYN-binding. {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					TGTGCGACCAGCTCGGTCCAG	0.612																																																	0													63.0	63.0	63.0					22																	38229062		2203	4300	6503	SO:0001583	missense	0			BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.623C>T	22.37:g.38229062G>A	ENSP00000215941:p.Ala208Val		Q6ZSB1|Q9UGV1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A208V	ENST00000215941.4	37	c.623	CCDS13959.1	22	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708775	0.89018	.	.	ENSG00000100124	ENST00000215941;ENST00000406423;ENST00000411961;ENST00000424350	T;D;T;D	0.82711	-0.14;-1.64;-0.14;-1.64	5.59	5.59	0.84812	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	N	0.20986	0.625	0.80722	D	1	P;D	0.89917	0.948;1.0	B;D	0.91635	0.431;0.999	T	0.82184	-0.0583	10	0.20519	T	0.43	4.3736	19.5996	0.95554	0.0:0.0:1.0:0.0	.	88;208	B5MCX7;Q6NXT1	.;ANR54_HUMAN	V	208;88;192;75	ENSP00000215941:A208V;ENSP00000384392:A88V;ENSP00000405782:A192V;ENSP00000393035:A75V	ENSP00000215941:A208V	A	-	2	0	ANKRD54	36559008	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.847000	0.92166	2.635000	0.89317	0.650000	0.86243	GCT	ANKRD54	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000100124		0.612	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD54	HGNC	protein_coding	OTTHUMT00000319490.1		0.00	21	0	G	NM_138797		38229062	-1			no_errors	ENST00000215941	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A
AOAH	313	genome.wustl.edu	37	7	36657928	36657928	+	Silent	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:36657928A>G	ENST00000258749.5	-	10	1125	c.726T>C	c.(724-726)gtT>gtC	p.V242V	AOAH_ENST00000535891.1_Silent_p.V210V|AOAH_ENST00000431169.1_Silent_p.V242V	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	242					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TCTCATATGGAACTCCATCTT	0.328																																																	0													113.0	107.0	109.0					7																	36657928		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.726T>C	7.37:g.36657928A>G			A4D1Y5|B7Z490|Q53F13	Silent	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.V242	ENST00000258749.5	37	c.726	CCDS5448.1	7																																																																																			AOAH	-	NULL	ENSG00000136250		0.328	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	-	0.00	33	0	A	NM_001637		36657928	-1	tier1	-	no_errors	ENST00000258749	ensembl	human	known	74_37	silent	40.32	37	25	SNP	0.993	G
APOC1	341	genome.wustl.edu	37	19	45419666	45419666	+	Intron	DEL	A	A	-			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:45419666delA	ENST00000588750.1	+	4	519				APOC1_ENST00000589781.1_Intron|APOC1_ENST00000586638.1_Intron|APOC1_ENST00000252491.4_Intron|APOC1_ENST00000592885.1_Frame_Shift_Del_p.E93fs|APOC1_ENST00000588802.1_Intron			P02654	APOC1_HUMAN	apolipoprotein C-I						cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GAACAGATTGAAAAAAAAACA	0.522																																																	0																																										SO:0001627	intron_variant	0			X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.194+84A>-	19.37:g.45419666delA			B2R526|Q6IB97	Frame_Shift_Del	DEL	pfam_ApoC-I	p.T96fs	ENST00000588750.1	37	c.278	CCDS12648.1	19																																																																																			APOC1	-	NULL	ENSG00000130208		0.522	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC1	HGNC	protein_coding	OTTHUMT00000453245.1		0.00	23	0	A			45419666	+1	tier1		no_errors	ENST00000592885	ensembl	human	novel	74_37	frame_shift_del	12.00	22	3	DEL	0.005	-
ASL	435	genome.wustl.edu	37	7	65552335	65552335	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:65552335G>T	ENST00000304874.9	+	9	719	c.617G>T	c.(616-618)gGc>gTc	p.G206V	AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000395332.3_Missense_Mutation_p.G206V|ASL_ENST00000380839.4_Missense_Mutation_p.G180V|ASL_ENST00000395331.3_Missense_Mutation_p.G206V	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	206					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCCATTGCAGGCAATCCCCTG	0.632																																																	0													81.0	67.0	72.0					7																	65552335		2203	4300	6503	SO:0001583	missense	0				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.617G>T	7.37:g.65552335G>T	ENSP00000307188:p.Gly206Val		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase	p.G206V	ENST00000304874.9	37	c.617	CCDS5531.1	7	.	.	.	.	.	.	.	.	.	.	g	25.3	4.626049	0.87560	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99714	-6.5;-6.5;-6.5;-6.5;-6.5	5.72	5.72	0.89469	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	H	0.98849	4.35	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.85130	0.98;0.997;0.997	D	0.96579	0.9429	10	0.87932	D	0	.	17.0211	0.86434	0.0:0.0:1.0:0.0	.	180;206;206	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	V	206;180;206;141;206	ENSP00000307188:G206V;ENSP00000370219:G180V;ENSP00000378741:G206V;ENSP00000354710:G141V;ENSP00000378740:G206V	ENSP00000307188:G206V	G	+	2	0	ASL	65189770	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.864000	0.87037	2.700000	0.92200	0.561000	0.74099	GGC	ASL	-	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase	ENSG00000126522		0.632	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	-	0.00	36	0	G	NM_000048		65552335	+1	tier1	-	no_errors	ENST00000304874	ensembl	human	known	74_37	missense	9.30	116	12	SNP	1.000	T
ASTN1	460	genome.wustl.edu	37	1	177030356	177030356	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:177030356T>A	ENST00000367654.3	-	2	540	c.329A>T	c.(328-330)cAg>cTg	p.Q110L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.Q110L|ASTN1_ENST00000361833.2_Missense_Mutation_p.Q110L|ASTN1_ENST00000367657.3_Missense_Mutation_p.Q110L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	110					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGCCACTGCTGCCTCCAGCG	0.502																																																	0													168.0	161.0	164.0					1																	177030356		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.329A>T	1.37:g.177030356T>A	ENSP00000356626:p.Gln110Leu		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.Q110L	ENST00000367654.3	37	c.329		1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777263	0.70107	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15834	2.39;2.8;2.8;2.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	L	0.52573	1.65	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.992	D;D;D	0.72982	0.979;0.979;0.979	T	0.05338	-1.0891	10	0.72032	D	0.01	-13.5602	16.2708	0.82618	0.0:0.0:0.0:1.0	.	110;110;110	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	110	ENSP00000356629:Q110L;ENSP00000354536:Q110L;ENSP00000356626:Q110L;ENSP00000395041:Q110L	ENSP00000354536:Q110L	Q	-	2	0	ASTN1	175296979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.897000	0.87356	2.324000	0.78689	0.533000	0.62120	CAG	ASTN1	-	NULL	ENSG00000152092		0.502	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0.00	52	0	T	NM_004319		177030356	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	22.03	46	13	SNP	1.000	A
ASTN1	460	genome.wustl.edu	37	1	177030375	177030375	+	Missense_Mutation	SNP	G	G	T	rs138326291		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:177030375G>T	ENST00000367654.3	-	2	521	c.310C>A	c.(310-312)Cct>Act	p.P104T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.P104T|ASTN1_ENST00000361833.2_Missense_Mutation_p.P104T|ASTN1_ENST00000367657.3_Missense_Mutation_p.P104T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	104					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGCACCAAAGGGATATCCTCT	0.502																																																	0													147.0	141.0	143.0					1																	177030375		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.310C>A	1.37:g.177030375G>T	ENSP00000356626:p.Pro104Thr		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.P104T	ENST00000367654.3	37	c.310		1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793774	0.90453	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14266	2.52;2.94;2.94;2.52	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.00498	-1.1704	10	0.19147	T	0.46	-20.2983	20.2159	0.98296	0.0:0.0:1.0:0.0	.	104;104;104	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	T	104	ENSP00000356629:P104T;ENSP00000354536:P104T;ENSP00000356626:P104T;ENSP00000395041:P104T	ENSP00000354536:P104T	P	-	1	0	ASTN1	175296998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.689000	0.98673	2.882000	0.98803	0.655000	0.94253	CCT	ASTN1	-	NULL	ENSG00000152092		0.502	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0.00	50	0	G	NM_004319		177030375	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	T
ATP13A4	84239	genome.wustl.edu	37	3	193120496	193120496	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:193120496C>T	ENST00000342695.4	-	30	3858	c.3536G>A	c.(3535-3537)gGc>gAc	p.G1179D	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G1160D|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Missense_Mutation_p.G195D	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1179						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACTCCTCTGCCACACTCCGG	0.463																																																	0													99.0	97.0	98.0					3																	193120496		2203	4300	6503	SO:0001583	missense	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3536G>A	3.37:g.193120496C>T	ENSP00000339182:p.Gly1179Asp		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.G1179D	ENST00000342695.4	37	c.3536	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	3.867	-0.028659	0.07589	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;D;D	0.84944	0.48;-1.63;-1.92	4.63	0.531	0.17108	.	0.505595	0.17196	N	0.183316	T	0.72803	0.3506	L	0.35854	1.095	0.19300	N	0.999979	B	0.10296	0.003	B	0.13407	0.009	T	0.55062	-0.8199	10	0.22109	T	0.4	-29.4619	5.2186	0.15356	0.0:0.5634:0.1548:0.2818	.	1179	Q4VNC1	AT134_HUMAN	D	195;1160;1179	ENSP00000383129:G195D;ENSP00000376238:G1160D;ENSP00000339182:G1179D	ENSP00000339182:G1179D	G	-	2	0	ATP13A4	194603190	0.000000	0.05858	0.028000	0.17463	0.046000	0.14306	-1.480000	0.02325	0.497000	0.27926	0.597000	0.82753	GGC	ATP13A4	-	NULL	ENSG00000127249		0.463	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	-	0.00	44	0	C	NM_032279		193120496	-1	tier1	-	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.007	T
ATP1A4	480	genome.wustl.edu	37	1	160124898	160124898	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:160124898delC	ENST00000368081.4	+	3	742	c.271delC	c.(271-273)cccfs	p.P92fs		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	92	Interaction with phosphoinositide-3 kinase. {ECO:0000250}.				ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTACCCCACCCCCCACCAC	0.527																																																	0													114.0	113.0	114.0					1																	160124898		2203	4300	6503	SO:0001589	frameshift_variant	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.271delC	1.37:g.160124898delC	ENSP00000357060:p.Pro92fs		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.T93fs	ENST00000368081.4	37	c.271	CCDS1197.1	1																																																																																			ATP1A4	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000132681		0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1		0.00	46	0	C	NM_144699		160124898	+1	tier1		no_errors	ENST00000368081	ensembl	human	known	74_37	frame_shift_del	26.76	52	19	DEL	1.000	-
B4GALNT3	283358	genome.wustl.edu	37	12	663075	663075	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:663075C>T	ENST00000266383.5	+	14	1999	c.1986C>T	c.(1984-1986)aaC>aaT	p.N662N		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	662					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CATCTGGCAACCTGCTGCTTC	0.572																																																	0													98.0	89.0	92.0					12																	663075		2203	4300	6503	SO:0001819	synonymous_variant	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1986C>T	12.37:g.663075C>T			Q6ZNC1|Q8N7T6	Silent	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.N662	ENST00000266383.5	37	c.1986	CCDS8504.1	12																																																																																			B4GALNT3	-	NULL	ENSG00000139044		0.572	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	-	0.00	24	0	C	NM_173593		663075	+1	tier1	-	no_errors	ENST00000266383	ensembl	human	known	74_37	silent	65.52	10	19	SNP	1.000	T
BAZ2A	11176	genome.wustl.edu	37	12	56997326	56997326	+	Missense_Mutation	SNP	C	C	T	rs535118194		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:56997326C>T	ENST00000551812.1	-	17	3396	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1066H|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1036H|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1038H	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1068					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCGACCCCTGCGGCCAGGGAC	0.502																																																	0													121.0	127.0	125.0					12																	56997326		2029	4153	6182	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3203G>A	12.37:g.56997326C>T	ENSP00000446880:p.Arg1068His		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R1068H	ENST00000551812.1	37	c.3203	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272570	0.80580	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.74421	-0.28;-0.28;-0.29;-0.84;-0.29	5.2	5.2	0.72013	.	0.122641	0.53938	D	0.000041	T	0.80691	0.4671	L	0.40543	1.245	0.42515	D	0.99298	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.972	T	0.81638	-0.0842	10	0.56958	D	0.05	.	14.6061	0.68481	0.0:1.0:0.0:0.0	.	1066;1068;1068	F8VU39;Q9UIF9-3;Q9UIF9	.;.;BAZ2A_HUMAN	H	1038;1036;1068;4;1066	ENSP00000368754:R1038H;ENSP00000179765:R1036H;ENSP00000446880:R1068H;ENSP00000448760:R4H;ENSP00000447941:R1066H	ENSP00000179765:R1036H	R	-	2	0	BAZ2A	55283593	0.980000	0.34600	1.000000	0.80357	0.625000	0.37756	3.974000	0.56852	2.591000	0.87537	0.655000	0.94253	CGC	BAZ2A	-	NULL	ENSG00000076108		0.502	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0.00	42	0	C	NM_013449		56997326	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	40.74	32	22	SNP	1.000	T
BBS1	582	genome.wustl.edu	37	11	66297345	66297345	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:66297345C>T	ENST00000318312.7	+	14	1446	c.1395C>T	c.(1393-1395)cgC>cgT	p.R465R	BBS1_ENST00000455748.2_Silent_p.R368R|BBS1_ENST00000393994.2_Silent_p.R336R|CTD-3074O7.11_ENST00000419755.3_Silent_p.R502R|ZDHHC24_ENST00000526986.1_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	465					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTGCTGCCCGCGCCTACCTGC	0.677									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													75.0	51.0	59.0					11																	66297345		2200	4295	6495	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1395C>T	11.37:g.66297345C>T			Q32MM9|Q32MN0|Q96SN4	Silent	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.R502	ENST00000318312.7	37	c.1506	CCDS8142.1	11																																																																																			CTD-3074O7.11	-	NULL	ENSG00000256349		0.677	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000393235.2	-	0.00	78	0	C			66297345	+1	tier1	-	no_errors	ENST00000419755	ensembl	human	known	74_37	silent	51.65	44	47	SNP	0.008	T
BCAM	4059	genome.wustl.edu	37	19	45314532	45314532	+	Nonsense_Mutation	SNP	C	C	T	rs199665533		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:45314532C>T	ENST00000270233.6	+	2	155	c.133C>T	c.(133-135)Cga>Tga	p.R45*	BCAM_ENST00000589651.1_Nonsense_Mutation_p.R45*	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	45	Ig-like V-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGAGGTGATGCGAGGAAAGTC	0.587																																																	0													199.0	175.0	183.0					19																	45314532		2203	4300	6503	SO:0001587	stop_gained	0			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.133C>T	19.37:g.45314532C>T	ENSP00000270233:p.Arg45*		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Nonsense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R45*	ENST00000270233.6	37	c.133	CCDS12644.1	19	.	.	.	.	.	.	.	.	.	.	.	19.68	3.873385	0.72180	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	.	.	.	3.64	-0.381	0.12485	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-6.8614	9.6932	0.40141	0.4166:0.5834:0.0:0.0	.	.	.	.	X	45	.	ENSP00000270233:R45X	R	+	1	2	BCAM	50006372	0.048000	0.20356	0.513000	0.27749	0.146000	0.21551	-0.092000	0.11129	0.207000	0.20607	0.305000	0.20034	CGA	BCAM	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000187244		0.587	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	HGNC	protein_coding	OTTHUMT00000453220.1	-	0.00	79	0	C	NM_005581		45314532	+1	tier1	rs199665533	no_errors	ENST00000270233	ensembl	human	known	74_37	nonsense	28.16	74	29	SNP	0.236	T
C10orf90	118611	genome.wustl.edu	37	10	128147765	128147765	+	Missense_Mutation	SNP	G	G	A	rs538297381		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:128147765G>A	ENST00000284694.7	-	6	1861	c.1741C>T	c.(1741-1743)Cct>Tct	p.P581S	C10orf90_ENST00000544758.1_Missense_Mutation_p.P678S|C10orf90_ENST00000356858.3_Missense_Mutation_p.P534S|C10orf90_ENST00000454341.1_Missense_Mutation_p.P484S|C10orf90_ENST00000480379.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	581	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ATGAACTGAGGCTTACGAACT	0.488																																																	0													152.0	130.0	137.0					10																	128147765		2203	4300	6503	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1741C>T	10.37:g.128147765G>A	ENSP00000284694:p.Pro581Ser		B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.P678S	ENST00000284694.7	37	c.2032	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479507	0.63849	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.37584	1.75;1.81;1.81;1.19	4.87	4.87	0.63330	.	0.000000	0.43110	D	0.000618	T	0.58177	0.2104	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.61217	-0.7107	10	0.72032	D	0.01	-18.6972	14.8626	0.70392	0.0:0.0:1.0:0.0	.	678;581;484	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	S	534;581;484;678;581	ENSP00000284694:P581S;ENSP00000398786:P484S;ENSP00000444369:P678S;ENSP00000405995:P581S	ENSP00000284694:P581S	P	-	1	0	C10orf90	128137755	1.000000	0.71417	0.923000	0.36655	0.628000	0.37860	6.049000	0.71053	2.508000	0.84585	0.655000	0.94253	CCT	C10orf90	-	NULL	ENSG00000154493		0.488	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0.00	32	0	G	NM_001004298		128147765	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	65.38	18	34	SNP	0.981	A
C16orf95	100506581	genome.wustl.edu	37	16	87344827	87344827	+	Intron	SNP	G	G	A	rs558849785		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:87344827G>A	ENST00000253461.4	-	3	504				C16orf95_ENST00000567970.1_Missense_Mutation_p.R136C|RP11-178L8.4_ENST00000568879.1_Intron	NM_001195125.1|NM_001256917.1	NP_001182054.1|NP_001243846.1	Q9H693	CP095_HUMAN	chromosome 16 open reading frame 95																		ATCGGGAGGCGGCCCCCAAAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17718	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0				CCDS54049.1, CCDS58491.1, CCDS73921.1	16q24.2	2012-10-10			ENSG00000260456	ENSG00000260456			40033	protein-coding gene	gene with protein product							Standard	NM_001195124		Approved		uc021tmh.1	Q9H693	OTTHUMG00000175680	ENST00000253461.4:c.330+3749C>T	16.37:g.87344827G>A				Missense_Mutation	SNP	NULL	p.R136C	ENST00000253461.4	37	c.406	CCDS54049.1	16																																																																																			C16orf95	-	NULL	ENSG00000260456		0.597	C16orf95-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C16orf95	HGNC	protein_coding	OTTHUMT00000430790.1	-	0.00	56	0	G	NM_001195124		87344827	-1	tier1	-	no_errors	ENST00000567970	ensembl	human	known	74_37	missense	51.79	27	29	SNP	0.059	A
C20orf194	25943	genome.wustl.edu	37	20	3299048	3299048	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr20:3299048C>T	ENST00000252032.9	-	17	1424		c.e17-1		C20orf194_ENST00000453730.2_Splice_Site|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CCATACAAGCCTGCATTGAAT	0.413																																																	0													59.0	59.0	59.0					20																	3299048		1899	4113	6012	SO:0001630	splice_region_variant	0			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1357-1G>A	20.37:g.3299048C>T			Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	-	e17-1	ENST00000252032.9	37	c.1357-1	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164169	0.57476	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4744	0.90786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf194	3247048	1.000000	0.71417	0.997000	0.53966	0.549000	0.35272	5.919000	0.70005	2.726000	0.93360	0.650000	0.86243	.	C20orf194	-	-	ENSG00000088854		0.413	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	-	0.00	44	0	C	NM_001009984	Intron	3299048	-1	tier1	-	no_errors	ENST00000252032	ensembl	human	known	74_37	splice_site	47.73	23	21	SNP	1.000	T
C20orf173	140873	genome.wustl.edu	37	20	34116541	34116541	+	Silent	SNP	G	G	A	rs548552112		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr20:34116541G>A	ENST00000246199.2	-	2	596	c.318C>T	c.(316-318)ccC>ccT	p.P106P	C20orf173_ENST00000444723.1_Silent_p.P159P|RP3-477O4.5_ENST00000422009.1_RNA|C20orf173_ENST00000374345.4_Silent_p.P159P			Q96LM9	CT173_HUMAN	chromosome 20 open reading frame 173	106										haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						TGAAAACCACGGGGTATTGGT	0.597																																																	0													20.0	19.0	20.0					20																	34116541		692	1591	2283	SO:0001819	synonymous_variant	0			AL121586	CCDS46594.1	20q11.22	2012-10-30			ENSG00000125975	ENSG00000125975			16166	protein-coding gene	gene with protein product							Standard	NM_001145350		Approved	dJ477O4.4	uc010zvf.1	Q96LM9	OTTHUMG00000032340	ENST00000246199.2:c.318C>T	20.37:g.34116541G>A			A6PVJ1|Q2M293|Q5JWS4|Q9H449	Silent	SNP	NULL	p.P159	ENST00000246199.2	37	c.477		20																																																																																			C20orf173	-	NULL	ENSG00000125975		0.597	C20orf173-001	KNOWN	basic	protein_coding	C20orf173	HGNC	protein_coding	OTTHUMT00000078874.6		0.00	20	0	G	NM_001145350		34116541	-1			no_errors	ENST00000374345	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.000	A
CACNA1D	776	genome.wustl.edu	37	3	53766990	53766990	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:53766990G>A	ENST00000350061.5	+	19	3132		c.e19+1		CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGACCAACCCGTAAATACTCC	0.557																																																	0													71.0	68.0	69.0					3																	53766990		2203	4300	6503	SO:0001630	splice_region_variant	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2621+1G>A	3.37:g.53766990G>A			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	-	e20+1	ENST00000350061.5	37	c.2681+1	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947189	0.92593	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53742030	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.694000	0.98686	2.663000	0.90544	0.655000	0.94253	.	CACNA1D	-	-	ENSG00000157388		0.557	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	-	0.00	30	0	G	NM_000720	Intron	53766990	+1	tier1	-	no_errors	ENST00000288139	ensembl	human	known	74_37	splice_site	51.16	21	22	SNP	1.000	A
C3orf36	80111	genome.wustl.edu	37	3	133647490	133647490	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:133647490A>C	ENST00000408895.2	-	1	1166	c.158T>G	c.(157-159)cTc>cGc	p.L53R		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	53										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						TGCCTTCCTGAGCGTGGTTGG	0.642																																																	0													39.0	41.0	41.0					3																	133647490		2203	4300	6503	SO:0001583	missense	0			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.158T>G	3.37:g.133647490A>C	ENSP00000386219:p.Leu53Arg		Q3SXR3|Q9H6K8	Missense_Mutation	SNP	NULL	p.L53R	ENST00000408895.2	37	c.158	CCDS3083.1	3	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536355	0.27475	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.11	1.2	0.21068	.	.	.	.	.	T	0.22322	0.0538	N	0.08118	0	0.09310	N	1	D	0.53462	0.96	P	0.53912	0.737	T	0.08659	-1.0711	8	0.87932	D	0	.	4.1106	0.10057	0.2235:0.0:0.7765:0.0	.	53	Q3SXR2	CC036_HUMAN	R	53	.	ENSP00000386219:L53R	L	-	2	0	C3orf36	135130180	0.009000	0.17119	0.020000	0.16555	0.245000	0.25701	0.908000	0.28545	0.438000	0.26450	0.260000	0.18958	CTC	C3orf36	-	NULL	ENSG00000221972		0.642	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf36	HGNC	protein_coding		-	0.00	34	0	A	NM_025041		133647490	-1	tier1	-	no_errors	ENST00000408895	ensembl	human	known	74_37	missense	35.29	22	12	SNP	0.022	C
CACNA1E	777	genome.wustl.edu	37	1	181745356	181745356	+	Silent	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:181745356A>G	ENST00000367573.2	+	38	5259	c.5259A>G	c.(5257-5259)cgA>cgG	p.R1753R	CACNA1E_ENST00000358338.5_Silent_p.R1685R|CACNA1E_ENST00000367567.4_Silent_p.R1360R|CACNA1E_ENST00000360108.3_Silent_p.R1734R|CACNA1E_ENST00000367570.1_Silent_p.R1753R|CACNA1E_ENST00000357570.5_Silent_p.R1704R|CACNA1E_ENST00000526775.1_Silent_p.R1734R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATATGACCGAGCAGCATGGT	0.612																																																	0													100.0	101.0	101.0					1																	181745356		1949	4134	6083	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5259A>G	1.37:g.181745356A>G			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R1753	ENST00000367573.2	37	c.5259	CCDS55664.1	1																																																																																			CACNA1E	-	pfscan_EF_hand_dom	ENSG00000198216		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	17	0	A	NM_000721		181745356	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	47.62	11	10	SNP	0.997	G
CACNA1F	778	genome.wustl.edu	37	X	49082518	49082518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:49082518G>A	ENST00000376265.2	-	13	1598	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R502*|CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.R448*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	513					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGTTGGCTCGGCGGAGGCGG	0.652																																																	0													20.0	15.0	17.0					X																	49082518		2189	4283	6472	SO:0001587	stop_gained	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1537C>T	X.37:g.49082518G>A	ENSP00000365441:p.Arg513*		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R513*	ENST00000376265.2	37	c.1537	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819196	0.90873	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	3.56	-5.94	0.02247	.	1.401140	0.05313	U	0.525221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8498	0.63489	0.0:0.0:0.4131:0.5869	.	.	.	.	X	448;502;513	.	ENSP00000321618:R502X	R	-	1	2	CACNA1F	48969462	0.001000	0.12720	0.354000	0.25760	0.613000	0.37349	0.564000	0.23563	-1.032000	0.03304	-0.884000	0.02946	CGA	CACNA1F	-	prints_VDCC_L_a1su	ENSG00000102001		0.652	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	-	0.00	21	0	G	NM_005183		49082518	-1	tier1	-	no_errors	ENST00000376265	ensembl	human	known	74_37	nonsense	90.48	4	38	SNP	0.747	A
CATSPERD	257062	genome.wustl.edu	37	19	5733871	5733871	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:5733871G>A	ENST00000381624.3	+	5	342	c.281G>A	c.(280-282)gGc>gAc	p.G94D	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	94					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TTTTAGGTCGGCGTACCAGAA	0.333																																																	0													132.0	129.0	130.0					19																	5733871		1880	4117	5997	SO:0001583	missense	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.281G>A	19.37:g.5733871G>A	ENSP00000371037:p.Gly94Asp		Q6ZRP1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.G94D	ENST00000381624.3	37	c.281	CCDS12149.2	19	.	.	.	.	.	.	.	.	.	.	g	14.47	2.544096	0.45280	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.58940	0.3	4.37	1.96	0.26148	.	1.360710	0.05872	U	0.624723	T	0.70386	0.3218	M	0.62723	1.935	0.19300	N	0.999972	D	0.63880	0.993	P	0.60286	0.872	T	0.56408	-0.7984	10	0.48119	T	0.1	.	10.9803	0.47490	0.0:0.3612:0.6388:0.0	.	94	Q86XM0	TM146_HUMAN	D	20;94	ENSP00000371037:G94D	ENSP00000371037:G94D	G	+	2	0	TMEM146	5684871	0.153000	0.22777	0.006000	0.13384	0.017000	0.09413	2.060000	0.41394	0.918000	0.36919	0.651000	0.88453	GGC	CATSPERD	-	NULL	ENSG00000174898		0.333	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	-	0.00	36	0	G	NM_152784		5733871	+1	tier1	-	no_errors	ENST00000381624	ensembl	human	known	74_37	missense	45.71	19	16	SNP	0.005	A
CCDC158	339965	genome.wustl.edu	37	4	77250093	77250093	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr4:77250093G>A	ENST00000388914.3	-	21	3110	c.2958C>T	c.(2956-2958)gaC>gaT	p.D986D		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	986	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATCTTCCCTGTCTCCTGCGT	0.448																																																	0													133.0	126.0	128.0					4																	77250093		1974	4173	6147	SO:0001819	synonymous_variant	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2958C>T	4.37:g.77250093G>A			Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	superfamily_Prefoldin	p.D986	ENST00000388914.3	37	c.2958	CCDS43242.1	4																																																																																			CCDC158	-	NULL	ENSG00000163749		0.448	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	-	0.00	48	0	G	NM_001042784		77250093	-1	tier1	-	no_errors	ENST00000388914	ensembl	human	known	74_37	silent	31.71	28	13	SNP	0.927	A
CCDC61	729440	genome.wustl.edu	37	19	46498690	46498690	+	5'Flank	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:46498690A>G	ENST00000595358.1	+	0	0				CCDC61_ENST00000263284.2_Missense_Mutation_p.N30D|CCDC61_ENST00000536603.1_5'Flank	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61							centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CAGAAGCGAGAACGCCGGATC	0.622																																																	0													24.0	26.0	25.0					19																	46498690		1864	4112	5976	SO:0001631	upstream_gene_variant	0				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488		19.37:g.46498690A>G	Exception_encountered		C8CAP4|Q9HDB6	Missense_Mutation	SNP	NULL	p.N30D	ENST00000595358.1	37	c.88	CCDS46120.2	19	.	.	.	.	.	.	.	.	.	.	A	10.92	1.488456	0.26686	.	.	ENSG00000104983	ENST00000263284	.	.	.	4.18	2.1	0.27182	.	.	.	.	.	T	0.52041	0.1710	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	T	0.38222	-0.9671	5	0.30854	T	0.27	.	5.7312	0.18040	0.7837:0.0:0.2163:0.0	.	.	.	.	D	30	.	ENSP00000263284:N30D	N	+	1	0	CCDC61	51190530	0.302000	0.24454	0.815000	0.32552	0.092000	0.18411	0.940000	0.28992	0.413000	0.25759	0.456000	0.33151	AAC	CCDC61	-	NULL	ENSG00000104983		0.622	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CCDC61	HGNC	protein_coding	OTTHUMT00000461689.1	-	0.00	48	0	A	NM_001080402		46498690	+1	tier1	-	no_errors	ENST00000263284	ensembl	human	known	74_37	missense	51.22	40	42	SNP	0.744	G
DNAH10	196385	genome.wustl.edu	37	12	124403525	124403525	+	Intron	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:124403525T>G	ENST00000409039.3	+	64	11177					NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAGGACATGTTAGTGTAGTT	0.448																																																	0													52.0	51.0	51.0					12																	124403525		2136	4251	6387	SO:0001627	intron_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11152+29T>G	12.37:g.124403525T>G			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	RNA	SNP	-	NULL	ENST00000409039.3	37	NULL	CCDS9255.2	12																																																																																			CCDC92	-	-	ENSG00000119242		0.448	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	26	0	T			124403525	-1	tier1	-	no_errors	ENST00000542348	ensembl	human	known	74_37	rna	30.30	23	10	SNP	0.000	G
CD8A	925	genome.wustl.edu	37	2	87017722	87017722	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:87017722C>T	ENST00000409511.2	-	5	1162	c.132G>A	c.(130-132)caG>caA	p.Q44Q	CD8A_ENST00000409781.1_Silent_p.Q44Q|CD8A_ENST00000283635.3_Silent_p.Q44Q|CD8A_ENST00000352580.3_Silent_p.Q44Q|CD8A_ENST00000456996.2_Silent_p.Q44Q|CD8A_ENST00000538832.1_Silent_p.Q85Q	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	44	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						ACAGCAGCACCTGGCACTTCA	0.682																																																	0													33.0	36.0	35.0					2																	87017722		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.132G>A	2.37:g.87017722C>T			B4DT80|D6W5M8|Q13970|Q4ZG17	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q85	ENST00000409511.2	37	c.255	CCDS1992.1	2																																																																																			CD8A	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000153563		0.682	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CD8A	HGNC	protein_coding	OTTHUMT00000330784.3	-	0.00	9	0	C	NM_001768		87017722	-1	tier1	-	no_errors	ENST00000538832	ensembl	human	known	74_37	silent	47.37	10	9	SNP	0.671	T
CDH18	1016	genome.wustl.edu	37	5	19473289	19473289	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:19473289C>T	ENST00000507958.1	-	0	3409				CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTTGTATATCCACTTACTCAG	0.418																																																	0													59.0	60.0	60.0					5																	19473289		2201	4300	6501	SO:0001624	3_prime_UTR_variant	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.*46G>A	5.37:g.19473289C>T			A8K0I2|B4DHG6|Q8N5Z2	RNA	SNP	-	NULL	ENST00000507958.1	37	NULL	CCDS3889.1	5																																																																																			CDH18	-	-	ENSG00000145526		0.418	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0.00	30	0	C	NM_004934		19473289	-1	tier1	-	no_errors	ENST00000510297	ensembl	human	known	74_37	rna	30.95	58	26	SNP	0.023	T
CDH18	1016	genome.wustl.edu	37	5	19571717	19571717	+	Silent	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:19571717T>C	ENST00000507958.1	-	10	2214	c.1224A>G	c.(1222-1224)caA>caG	p.Q408Q	CDH18_ENST00000502796.1_Silent_p.Q408Q|CDH18_ENST00000511273.1_Silent_p.Q408Q|CDH18_ENST00000274170.4_Silent_p.Q408Q|CDH18_ENST00000382275.1_Silent_p.Q408Q|CDH18_ENST00000506372.1_Silent_p.Q408Q			Q13634	CAD18_HUMAN	cadherin 18, type 2	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTCAGGATCTTGTGCCAAAA	0.398																																																	0													153.0	129.0	137.0					5																	19571717		2203	4300	6503	SO:0001819	synonymous_variant	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1224A>G	5.37:g.19571717T>C			A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q408	ENST00000507958.1	37	c.1224	CCDS3889.1	5																																																																																			CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.398	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0.00	29	0	T	NM_004934		19571717	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	silent	28.21	28	11	SNP	1.000	C
CELSR2	1952	genome.wustl.edu	37	1	109795272	109795272	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:109795272C>T	ENST00000271332.3	+	1	2632	c.2571C>T	c.(2569-2571)ggC>ggT	p.G857G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	857	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCAAGGAGGCGACGATGGAG	0.547																																					NSCLC(158;1285 2011 34800 34852 42084)												0													113.0	104.0	107.0					1																	109795272		2203	4300	6503	SO:0001819	synonymous_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2571C>T	1.37:g.109795272C>T			Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G857	ENST00000271332.3	37	c.2571	CCDS796.1	1																																																																																			CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.547	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	-	0.00	44	0	C	NM_001408		109795272	+1	tier1	-	no_errors	ENST00000271332	ensembl	human	known	74_37	silent	14.04	49	8	SNP	0.060	T
CEP170	9859	genome.wustl.edu	37	1	243288182	243288182	+	3'UTR	DEL	T	T	-	rs572223491		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:243288182delT	ENST00000366542.1	-	0	6375				CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000366543.1_3'UTR|CEP170_ENST00000366544.1_3'UTR	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCATTTACCTTTTTTTTTTT	0.249																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.*1569A>-	1.37:g.243288182delT			O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	RNA	DEL	-	NULL	ENST00000366542.1	37	NULL	CCDS44339.1	1																																																																																			CEP170	-	-	ENSG00000143702		0.249	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2		0.00	23	0	T	NM_014812		243288182	-1	tier1		no_errors	ENST00000468254	ensembl	human	known	74_37	rna	14.29	18	3	DEL	0.001	-
CLUL1	27098	genome.wustl.edu	37	18	627265	627265	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr18:627265A>T	ENST00000400606.2	+	5	737	c.592A>T	c.(592-594)Agt>Tgt	p.S198C	CLUL1_ENST00000540035.1_Missense_Mutation_p.S250C|CLUL1_ENST00000338387.7_Missense_Mutation_p.S198C|CLUL1_ENST00000579494.1_Missense_Mutation_p.S198C|CLUL1_ENST00000581619.1_Missense_Mutation_p.S223C	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	198					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CTTTAACAGGAGTTTTAACGT	0.418																																																	0													214.0	197.0	203.0					18																	627265		1908	4136	6044	SO:0001583	missense	0			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.592A>T	18.37:g.627265A>T	ENSP00000383449:p.Ser198Cys		A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.S198C	ENST00000400606.2	37	c.592	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	A	13.47	2.248057	0.39697	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.32515	1.45;1.45;1.45	5.6	5.6	0.85130	Clusterin, N-terminal (1);	0.081370	0.85682	D	0.000000	T	0.52468	0.1736	M	0.70275	2.135	0.35289	D	0.782023	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.66697	-0.5858	10	0.87932	D	0	-7.5046	10.1667	0.42884	0.9256:0.0:0.0744:0.0	.	250;198	F5GWQ8;Q15846	.;CLUL1_HUMAN	C	198;250;198	ENSP00000383449:S198C;ENSP00000441726:S250C;ENSP00000341128:S198C	ENSP00000341128:S198C	S	+	1	0	CLUL1	617265	1.000000	0.71417	0.305000	0.25099	0.281000	0.26958	4.909000	0.63314	2.139000	0.66308	0.459000	0.35465	AGT	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_N	ENSG00000079101		0.418	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	-	0.00	67	0	A			627265	+1	tier1	-	no_errors	ENST00000338387	ensembl	human	known	74_37	missense	11.34	218	28	SNP	0.646	T
CLUL1	27098	genome.wustl.edu	37	18	641516	641516	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr18:641516C>G	ENST00000400606.2	+	7	1329	c.1184C>G	c.(1183-1185)aCa>aGa	p.T395R	CLUL1_ENST00000540035.1_Missense_Mutation_p.T447R|CLUL1_ENST00000338387.7_Missense_Mutation_p.T395R|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000579494.1_Missense_Mutation_p.T395R|CLUL1_ENST00000581619.1_Missense_Mutation_p.T420R	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	395					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GCCCCAGAAACAGAGATCATC	0.463																																																	0													79.0	79.0	79.0					18																	641516		1900	4104	6004	SO:0001583	missense	0			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1184C>G	18.37:g.641516C>G	ENSP00000383449:p.Thr395Arg		A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.T395R	ENST00000400606.2	37	c.1184	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574920	0.28092	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.22336	1.96;1.96;1.96	5.45	3.65	0.41850	Clusterin, C-terminal (1);	0.335796	0.32952	N	0.005451	T	0.24353	0.0590	L	0.44542	1.39	0.20196	N	0.999925	D;P	0.53151	0.958;0.863	P;P	0.49637	0.483;0.617	T	0.05178	-1.0901	10	0.59425	D	0.04	0.0431	9.4824	0.38908	0.0:0.7811:0.1431:0.0758	.	447;395	F5GWQ8;Q15846	.;CLUL1_HUMAN	R	395;447;395	ENSP00000383449:T395R;ENSP00000441726:T447R;ENSP00000341128:T395R	ENSP00000341128:T395R	T	+	2	0	CLUL1	631516	0.288000	0.24324	0.001000	0.08648	0.025000	0.11179	2.582000	0.46085	0.656000	0.30886	0.563000	0.77884	ACA	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_C	ENSG00000079101		0.463	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	-	0.00	34	0	C			641516	+1	tier1	-	no_errors	ENST00000338387	ensembl	human	known	74_37	missense	11.00	89	11	SNP	0.010	G
CNTNAP3	79937	genome.wustl.edu	37	9	39288005	39288005	+	Silent	SNP	A	A	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:39288005A>C	ENST00000297668.6	-	1	130	c.57T>G	c.(55-57)acT>acG	p.T19T	CNTNAP3_ENST00000323947.7_Silent_p.T19T|CNTNAP3_ENST00000377656.2_Silent_p.T19T|CNTNAP3_ENST00000377659.1_Silent_p.T19T	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	19					cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGGGGCTCCAAGTCTGAGTGG	0.542																																																	0													3.0	2.0	2.0					9																	39288005		1054	1429	2483	SO:0001819	synonymous_variant	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.57T>G	9.37:g.39288005A>C			B1AMA0|Q9C0E9	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T19	ENST00000297668.6	37	c.57	CCDS6616.1	9																																																																																			CNTNAP3	-	NULL	ENSG00000106714		0.542	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0.00	40	0	A	NM_033655		39288005	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	silent	17.78	37	8	SNP	0.000	C
COL22A1	169044	genome.wustl.edu	37	8	139774711	139774711	+	Splice_Site	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:139774711T>G	ENST00000303045.6	-	17	2250		c.e17-2		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCGCTCTCCCTGGCAAAAGAA	0.582										HNSCC(7;0.00092)																																							0													68.0	53.0	58.0					8																	139774711		2203	4300	6503	SO:0001630	splice_region_variant	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1804-2A>C	8.37:g.139774711T>G			B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	-	e16-2	ENST00000303045.6	37	c.1804-2	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914131	0.72983	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4541	0.50171	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139843893	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.432000	0.52824	2.202000	0.70862	0.533000	0.62120	.	COL22A1	-	-	ENSG00000169436		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0.00	31	0	T	XM_291257	Intron	139774711	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	splice_site	28.85	37	15	SNP	0.998	G
COL5A3	50509	genome.wustl.edu	37	19	10091481	10091481	+	Splice_Site	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:10091481C>G	ENST00000264828.3	-	34	2645		c.e34+1			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATCCCATACCTTGGGGCCT	0.577																																																	0													31.0	32.0	32.0					19																	10091481		2203	4300	6503	SO:0001630	splice_region_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2559+1G>C	19.37:g.10091481C>G			Q9NZQ6	Splice_Site	SNP	-	e34+1	ENST00000264828.3	37	c.2559+1	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876300	0.72180	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4398	0.67309	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A3	9952481	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.483000	0.73617	1.993000	0.58246	0.305000	0.20034	.	COL5A3	-	-	ENSG00000080573		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	-	0.00	26	0	C	NM_015719	Intron	10091481	-1	tier1	-	no_errors	ENST00000264828	ensembl	human	known	74_37	splice_site	44.74	21	17	SNP	1.000	G
COL6A5	256076	genome.wustl.edu	37	3	130110337	130110337	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:130110337G>T	ENST00000432398.2	+	7	3226	c.2732G>T	c.(2731-2733)cGc>cTc	p.R911L	COL6A5_ENST00000265379.6_Missense_Mutation_p.R911L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	911	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CATGGCAGCCGCATCAAGCAA	0.498																																																	0													81.0	65.0	70.0					3																	130110337		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2732G>T	3.37:g.130110337G>T	ENSP00000390895:p.Arg911Leu		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R911L	ENST00000432398.2	37	c.2732		3	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689509	0.48097	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.88124	-2.34;-2.34	5.72	5.72	0.89469	.	.	.	.	.	D	0.94479	0.8223	M	0.88105	2.93	0.47862	D	0.999531	D	0.89917	1.0	D	0.97110	1.0	D	0.94805	0.7974	9	0.62326	D	0.03	.	16.7999	0.85611	0.0:0.0:1.0:0.0	.	911	A8TX70-2	.	L	911	ENSP00000390895:R911L;ENSP00000265379:R911L	ENSP00000265379:R911L	R	+	2	0	COL6A5	131593027	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	6.708000	0.74660	2.705000	0.92388	0.655000	0.94253	CGC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.498	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0.00	25	0	G	NM_153264		130110337	+1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.999	T
COPB1	1315	genome.wustl.edu	37	11	14490268	14490268	+	Silent	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:14490268T>G	ENST00000249923.3	-	16	2404	c.2104A>C	c.(2104-2106)Agg>Cgg	p.R702R	COPB1_ENST00000439561.2_Silent_p.R702R	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	702					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCCTCTTTCCTCTGTGTGTTA	0.393																																																	0													178.0	157.0	164.0					11																	14490268		2200	4294	6494	SO:0001819	synonymous_variant	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2104A>C	11.37:g.14490268T>G			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.R702	ENST00000249923.3	37	c.2104	CCDS7815.1	11																																																																																			COPB1	-	pfam_Coatomer_bsu_C,pirsf_COPB1	ENSG00000129083		0.393	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1		0.00	63	0	T	NM_016451		14490268	-1			no_errors	ENST00000249923	ensembl	human	known	74_37	silent	5.08	56	3	SNP	1.000	G
COPS6	10980	genome.wustl.edu	37	7	99688276	99688276	+	Splice_Site	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:99688276A>G	ENST00000303904.3	+	5	522	c.485A>G	c.(484-486)gAt>gGt	p.D162G	MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Splice_Site_p.D161G	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	162					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAGCACACAGATGTGAGTAAT	0.498																																																	0													132.0	120.0	124.0					7																	99688276		2203	4300	6503	SO:0001630	splice_region_variant	0			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.486+1A>G	7.37:g.99688276A>G			A4D2A3|O15387	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.D162G	ENST00000303904.3	37	c.485	CCDS5682.1	7	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253337	0.80135	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.44881	0.91;0.92	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.78223	2.4	0.80722	D	1	P	0.47302	0.893	B	0.40410	0.328	T	0.43032	-0.9416	10	0.10377	T	0.69	-10.7281	13.2215	0.59890	1.0:0.0:0.0:0.0	.	162	Q7L5N1	CSN6_HUMAN	G	162;161	ENSP00000304102:D162G;ENSP00000400617:D161G	ENSP00000304102:D162G	D	+	2	0	COPS6	99526212	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.501000	0.66950	2.217000	0.71921	0.533000	0.62120	GAT	COPS6	-	smart_JAB_MPN_dom	ENSG00000168090		0.498	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPS6	HGNC	protein_coding	OTTHUMT00000336412.3	-	0.00	57	0	A	NM_006833	Missense_Mutation	99688276	+1	tier1	-	no_errors	ENST00000303904	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	G
CPB1	1360	genome.wustl.edu	37	3	148562324	148562324	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:148562324T>G	ENST00000491148.1	+	8	970	c.636T>G	c.(634-636)ttT>ttG	p.F212L	CPB1_ENST00000282957.4_Missense_Mutation_p.F212L			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	212						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGTTAGACTTTTATGTCCTGC	0.423																																																	0													107.0	89.0	95.0					3																	148562324		2203	4300	6503	SO:0001583	missense	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.636T>G	3.37:g.148562324T>G	ENSP00000417222:p.Phe212Leu		O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.F212L	ENST00000491148.1	37	c.636	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	T	19.29	3.798553	0.70567	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.28454	1.61;1.61;1.61	5.78	-5.15	0.02866	Peptidase M14, carboxypeptidase A (2);	0.106092	0.64402	D	0.000005	T	0.45175	0.1329	L	0.58810	1.83	0.54753	D	0.999985	D	0.65815	0.995	D	0.63283	0.913	T	0.53373	-0.8448	10	0.66056	D	0.02	.	18.782	0.91937	0.0:0.7851:0.0:0.2149	.	212	P15086	CBPB1_HUMAN	L	212;212;178	ENSP00000417222:F212L;ENSP00000282957:F212L;ENSP00000419427:F178L	ENSP00000282957:F212L	F	+	3	2	CPB1	150045014	0.998000	0.40836	0.908000	0.35775	0.387000	0.30353	0.506000	0.22658	-0.969000	0.03573	-0.250000	0.11733	TTT	CPB1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000153002		0.423	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1	-	0.00	21	0	T	NM_001871		148562324	+1	tier1	-	no_errors	ENST00000282957	ensembl	human	known	74_37	missense	58.00	21	29	SNP	0.972	G
CPSF1	29894	genome.wustl.edu	37	8	145624995	145624995	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:145624995G>A	ENST00000349769.3	-	12	1319	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	409					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCAGCCTCACGGACAGCACTG	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)												0													20.0	23.0	22.0					8																	145624995		2196	4297	6493	SO:0001583	missense	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1225C>T	8.37:g.145624995G>A	ENSP00000339353:p.Arg409Cys		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R409C	ENST00000349769.3	37	c.1225	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469669	0.26423	.	.	ENSG00000071894	ENST00000349769	T	0.48201	0.82	5.47	5.47	0.80525	.	0.121945	0.56097	D	0.000032	T	0.31734	0.0806	N	0.14661	0.345	0.38040	D	0.935433	D	0.54207	0.965	B	0.39738	0.308	T	0.38090	-0.9677	10	0.56958	D	0.05	-0.5358	14.8214	0.70077	0.0:0.0:1.0:0.0	.	409	Q10570	CPSF1_HUMAN	C	409	ENSP00000339353:R409C	ENSP00000339353:R409C	R	-	1	0	CPSF1	145595803	0.991000	0.36638	0.145000	0.22337	0.560000	0.35617	2.826000	0.48104	2.573000	0.86826	0.400000	0.26472	CGT	CPSF1	-	NULL	ENSG00000071894		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	-	0.00	26	0	G	NM_013291		145624995	-1	tier1	-	no_errors	ENST00000349769	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.324	A
CRTAC1	55118	genome.wustl.edu	37	10	99770906	99770906	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:99770906G>A	ENST00000370597.3	-	2	568	c.213C>T	c.(211-213)atC>atT	p.I71I	CRTAC1_ENST00000370591.2_Silent_p.I71I|CRTAC1_ENST00000298819.4_Silent_p.I71I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	71						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCGCCACGACGATCTCAAAGT	0.493																																																	0													139.0	114.0	123.0					10																	99770906		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.213C>T	10.37:g.99770906G>A			B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.I71	ENST00000370597.3	37	c.213	CCDS31266.1	10																																																																																			CRTAC1	-	NULL	ENSG00000095713		0.493	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	-	0.00	29	0	G	NM_018058		99770906	-1	tier1	-	no_errors	ENST00000370597	ensembl	human	known	74_37	silent	38.89	11	7	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113364724	113364724	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:113364724C>A	ENST00000297405.5	-	39	6420	c.6176G>T	c.(6175-6177)aGc>aTc	p.S2059I	CSMD3_ENST00000455883.2_Missense_Mutation_p.S1955I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1989I|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2019I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2059	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTCCACTGCTAGGAGTTTG	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													113.0	106.0	109.0					8																	113364724		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6176G>T	8.37:g.113364724C>A	ENSP00000297405:p.Ser2059Ile		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2059I	ENST00000297405.5	37	c.6176	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609131	0.66558	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.055201	0.64402	D	0.000001	T	0.67720	0.2923	L	0.28054	0.825	0.46678	D	0.999157	P;B;P	0.52061	0.534;0.06;0.95	B;B;P	0.54140	0.283;0.063;0.743	T	0.71045	-0.4706	10	0.56958	D	0.05	.	18.476	0.90792	0.0:1.0:0.0:0.0	.	1955;2059;2019	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2019;2059;1329;1955;1989	ENSP00000345799:S2019I;ENSP00000297405:S2059I;ENSP00000341558:S1329I;ENSP00000412263:S1955I;ENSP00000343124:S1989I	ENSP00000297405:S2059I	S	-	2	0	CSMD3	113433900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.213000	0.42844	2.670000	0.90874	0.655000	0.94253	AGC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	37	0	C	NM_052900		113364724	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	A
CSNK1A1	1452	genome.wustl.edu	37	5	148899860	148899860	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:148899860C>T	ENST00000377843.2	-	4	928	c.449G>A	c.(448-450)tGt>tAt	p.C150Y	CSNK1A1_ENST00000515435.1_Missense_Mutation_p.C61Y|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.C61Y|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.C150Y|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.C150Y	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AACCTTATTACAGTGACGCCC	0.323																																					Colon(5;64 69 1309 10383)												0													93.0	95.0	94.0					5																	148899860		2177	4291	6468	SO:0001583	missense	0			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.449G>A	5.37:g.148899860C>T	ENSP00000367074:p.Cys150Tyr		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	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,pfscan_Prot_kinase_dom	p.C150Y	ENST00000377843.2	37	c.449	CCDS47303.1	5	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822222	0.32237	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.62221	0.2410	L	0.47016	1.485	0.80722	D	1	B;B;B;B;B;B	0.23058	0.001;0.006;0.001;0.011;0.079;0.007	B;B;B;B;B;B	0.30105	0.035;0.02;0.014;0.048;0.111;0.014	T	0.57688	-0.7768	10	0.48119	T	0.1	.	19.933	0.97127	0.0:1.0:0.0:0.0	.	61;61;150;150;150;61	B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4	.;.;.;KC1A_HUMAN;.;.	Y	150;150;61;61;150;150	ENSP00000261798:C150Y;ENSP00000367074:C150Y;ENSP00000426747:C61Y;ENSP00000427031:C61Y;ENSP00000421689:C150Y	ENSP00000261798:C150Y	C	-	2	0	CSNK1A1	148880053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.729000	0.84864	2.711000	0.92665	0.655000	0.94253	TGT	CSNK1A1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000113712		0.323	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	HGNC	protein_coding		-	0.00	32	0	C	NM_001892		148899860	-1	tier1	-	no_errors	ENST00000515768	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	T
DAPK2	23604	genome.wustl.edu	37	15	64275755	64275755	+	Silent	SNP	G	G	A	rs541062258		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:64275755G>A	ENST00000457488.1	-	3	321	c.291C>T	c.(289-291)acC>acT	p.T97T	DAPK2_ENST00000558069.1_Silent_p.T97T|DAPK2_ENST00000261891.3_Silent_p.T97T|DAPK2_ENST00000558482.1_5'UTR	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GCACCACGTCGGTGCGGTTCT	0.647																																																	0													64.0	62.0	63.0					15																	64275755		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.291C>T	15.37:g.64275755G>A			E9JGM7|O75892|Q24JS1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,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.T97	ENST00000457488.1	37	c.291	CCDS10188.1	15																																																																																			DAPK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000035664		0.647	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	-	0.00	42	0	G	NM_014326		64275755	-1	tier1	-	no_errors	ENST00000261891	ensembl	human	known	74_37	silent	11.11	56	7	SNP	0.998	A
DCHS2	54798	genome.wustl.edu	37	4	155157812	155157812	+	Missense_Mutation	SNP	G	G	T	rs202030719		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr4:155157812G>T	ENST00000357232.4	-	25	6626	c.6627C>A	c.(6625-6627)aaC>aaA	p.N2209K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2209	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCTGCTGAAGTTTGGGGGAT	0.493																																																	0													85.0	84.0	84.0					4																	155157812		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6627C>A	4.37:g.155157812G>T	ENSP00000349768:p.Asn2209Lys		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N2209K	ENST00000357232.4	37	c.6627	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.084723	0.00371	.	.	ENSG00000197410	ENST00000357232	T	0.60040	0.22	6.04	-8.57	0.00900	Cadherin (2);Cadherin-like (1);	1.520670	0.03678	N	0.245114	T	0.24392	0.0591	N	0.02247	-0.625	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28364	-1.0046	10	0.06236	T	0.91	.	9.9543	0.41657	0.0:0.4377:0.2798:0.2825	.	2209	Q6V1P9	PCD23_HUMAN	K	2209	ENSP00000349768:N2209K	ENSP00000349768:N2209K	N	-	3	2	DCHS2	155377262	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.849000	0.04322	-2.017000	0.00944	-0.311000	0.09066	AAC	DCHS2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197410		0.493	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0.00	35	0	G	NM_001142552		155157812	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	68.00	8	17	SNP	0.000	T
DCN	1634	genome.wustl.edu	37	12	91550915	91550915	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:91550915G>T	ENST00000052754.5	-	5	1090	c.589C>A	c.(589-591)Cag>Aag	p.Q197K	DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.Q88K|DCN_ENST00000228329.5_Missense_Mutation_p.Q88K|DCN_ENST00000393155.1_Missense_Mutation_p.Q197K|DCN_ENST00000552962.1_Missense_Mutation_p.Q197K|DCN_ENST00000303320.3_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	197					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTCATTCCCTGGAAAGCCCCA	0.393																																																	0													139.0	134.0	135.0					12																	91550915		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.589C>A	12.37:g.91550915G>T	ENSP00000052754:p.Gln197Lys		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.Q197K	ENST00000052754.5	37	c.589	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	G	3.348	-0.133077	0.06711	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.55930	0.49;3.65;0.49;0.49;3.65	5.69	2.67	0.31697	.	0.374361	0.30260	N	0.010031	T	0.24198	0.0586	N	0.16790	0.44	0.21499	N	0.999665	B;P	0.38250	0.0;0.624	B;B	0.25987	0.002;0.065	T	0.30679	-0.9970	10	0.02654	T	1	.	10.2709	0.43483	0.0664:0.0:0.6915:0.2421	.	197;88	P07585;P07585-2	PGS2_HUMAN;.	K	197;88;197;197;88	ENSP00000052754:Q197K;ENSP00000228329:Q88K;ENSP00000376862:Q197K;ENSP00000447654:Q197K;ENSP00000413723:Q88K	ENSP00000052754:Q197K	Q	-	1	0	DCN	90075046	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.651000	0.46674	1.348000	0.45733	0.585000	0.79938	CAG	DCN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.393	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	-	0.00	46	0	G	NM_133507		91550915	-1	tier1	-	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	39.53	26	17	SNP	0.220	T
DHRS7C	201140	genome.wustl.edu	37	17	9680523	9680523	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:9680523C>T	ENST00000330255.5	-	4	573	c.561G>A	c.(559-561)ccG>ccA	p.P187P	DHRS7C_ENST00000571134.1_Silent_p.P186P	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	187					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCGTACGGAACGGGATTCCAA	0.423																																																	0													118.0	111.0	113.0					17																	9680523		1909	4120	6029	SO:0001819	synonymous_variant	0				CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.561G>A	17.37:g.9680523C>T			B7ZW74|B9EJH3	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.P187	ENST00000330255.5	37	c.561	CCDS56020.1	17																																																																																			DHRS7C	-	pfam_DH_sc/Rdtase_SDR	ENSG00000184544		0.423	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	DHRS7C	HGNC	protein_coding	OTTHUMT00000439863.1	-	0.00	32	0	C	XM_113912		9680523	-1	tier1	-	no_errors	ENST00000330255	ensembl	human	known	74_37	silent	38.10	26	16	SNP	0.007	T
DLEC1	9940	genome.wustl.edu	37	3	38101292	38101292	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:38101292T>C	ENST00000308059.6	+	3	643	c.622T>C	c.(622-624)Tcc>Ccc	p.S208P	DLEC1_ENST00000452631.2_Missense_Mutation_p.S208P|DLEC1_ENST00000346219.3_Missense_Mutation_p.S208P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCATTTGATCTCCCCAGAAGA	0.478																																																	0													212.0	205.0	207.0					3																	38101292		1925	4140	6065	SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.622T>C	3.37:g.38101292T>C	ENSP00000308597:p.Ser208Pro			Missense_Mutation	SNP	superfamily_PapD-like	p.S208P	ENST00000308059.6	37	c.622	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150227	0.57151	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06528	3.33;3.29;3.55	4.99	3.82	0.43975	.	0.405610	0.30365	N	0.009784	T	0.11153	0.0272	L	0.46157	1.445	0.33215	D	0.553927	D;D;D	0.61080	0.989;0.98;0.989	P;P;P	0.53649	0.731;0.731;0.731	T	0.12734	-1.0536	10	0.44086	T	0.13	-13.807	8.7971	0.34885	0.0:0.0:0.1904:0.8096	.	208;208;208	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	P	208	ENSP00000308597:S208P;ENSP00000315914:S208P;ENSP00000410427:S208P	ENSP00000308597:S208P	S	+	1	0	DLEC1	38076296	0.997000	0.39634	0.993000	0.49108	0.724000	0.41520	1.094000	0.30951	0.904000	0.36572	-0.313000	0.08912	TCC	DLEC1	-	NULL	ENSG00000008226		0.478	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0.00	65	0	T	NM_007337		38101292	+1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	43.82	50	39	SNP	0.997	C
DLEC1	9940	genome.wustl.edu	37	3	38101297	38101297	+	Silent	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:38101297A>G	ENST00000308059.6	+	3	648	c.627A>G	c.(625-627)ccA>ccG	p.P209P	DLEC1_ENST00000452631.2_Silent_p.P209P|DLEC1_ENST00000346219.3_Silent_p.P209P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGATCTCCCCAGAAGATTACT	0.468																																																	0													208.0	202.0	204.0					3																	38101297		1922	4142	6064	SO:0001819	synonymous_variant	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.627A>G	3.37:g.38101297A>G				Silent	SNP	superfamily_PapD-like	p.P209	ENST00000308059.6	37	c.627	CCDS2672.2	3																																																																																			DLEC1	-	NULL	ENSG00000008226		0.468	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0.00	65	0	A	NM_007337		38101297	+1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	silent	44.32	49	39	SNP	0.304	G
DLGAP4	22839	genome.wustl.edu	37	20	35156842	35156842	+	3'UTR	DEL	G	G	-	rs11477084|rs62988560		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr20:35156842delG	ENST00000339266.5	+	0	4387				RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000373913.3_3'UTR|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4						cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCTTGCTGCAGGGGGGGACCC	0.652																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000339266.5:c.*1408G>-	20.37:g.35156842delG			E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	RNA	DEL	-	NULL	ENST00000339266.5	37	NULL		20																																																																																			DLGAP4	-	-	ENSG00000080845		0.652	DLGAP4-201	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding			0.00	41	0	G	NM_014902		35156842	+1	tier1		no_errors	ENST00000475894	ensembl	human	known	74_37	rna	46.43	60	52	DEL	0.582	-
DMXL2	23312	genome.wustl.edu	37	15	51763434	51763434	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:51763434A>C	ENST00000251076.5	-	29	7662	c.7375T>G	c.(7375-7377)Tat>Gat	p.Y2459D	DMXL2_ENST00000449909.3_Missense_Mutation_p.Y1823D|DMXL2_ENST00000543779.2_Missense_Mutation_p.Y2460D|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2459						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAACAAAATAATCCCACATA	0.413																																																	0													109.0	107.0	108.0					15																	51763434		2196	4293	6489	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7375T>G	15.37:g.51763434A>C	ENSP00000251076:p.Tyr2459Asp		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y2460D	ENST00000251076.5	37	c.7378	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222363	0.79464	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.32272	1.6;1.6;1.46	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.87578	0.998;0.991;0.994;0.997	T	0.62978	-0.6739	10	0.87932	D	0	.	15.4923	0.75619	1.0:0.0:0.0:0.0	.	2460;1823;2459;2460	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	D	2459;2460;1823;4	ENSP00000251076:Y2459D;ENSP00000441858:Y2460D;ENSP00000400855:Y1823D	ENSP00000251076:Y2459D	Y	-	1	0	DMXL2	49550726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.529000	0.90602	2.244000	0.73946	0.459000	0.35465	TAT	DMXL2	-	NULL	ENSG00000104093		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0.00	29	0	A	NM_015263		51763434	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	38.30	29	18	SNP	1.000	C
DNM1P47	100216544	genome.wustl.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:102292953T>C	ENST00000561463.1	+	0	999									DNM1 pseudogene 47																		GGCACAGCGGTGCGACGAGAT	0.587																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292953T>C				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1	-	0.00	16	0	T	NG_009149		102292953	+1	tier1	-	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	37.50	5	3	SNP	1.000	C
DPYSL3	1809	genome.wustl.edu	37	5	146804484	146804484	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:146804484C>G	ENST00000398514.3	-	2	453	c.82G>C	c.(82-84)Gat>Cat	p.D28H	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.D142H	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	28					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGACTGATCATCATTGACG	0.358																																																	0													137.0	125.0	129.0					5																	146804484		1888	4115	6003	SO:0001583	missense	0			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.82G>C	5.37:g.146804484C>G	ENSP00000381526:p.Asp28His		B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.D28H	ENST00000398514.3	37	c.82	CCDS43381.1	5	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881577	0.91740	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000512722	D;D;D	0.87256	-2.17;-2.23;-2.22	5.24	5.24	0.73138	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.94341	0.8181	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	D	0.94894	0.8050	10	0.87932	D	0	-6.8105	19.1805	0.93622	0.0:1.0:0.0:0.0	.	142;28	B3SXQ8;Q14195	.;DPYL3_HUMAN	H	28;142;28	ENSP00000381526:D28H;ENSP00000343690:D142H;ENSP00000426720:D28H	ENSP00000343690:D142H	D	-	1	0	DPYSL3	146784677	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.602000	0.87976	0.563000	0.77884	GAT	DPYSL3	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000113657		0.358	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	-	0.00	28	0	C	NM_001387		146804484	-1	tier1	-	no_errors	ENST00000398514	ensembl	human	known	74_37	missense	71.43	2	5	SNP	1.000	G
DQX1	165545	genome.wustl.edu	37	2	74746273	74746273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:74746273G>A	ENST00000404568.3	-	11	2110	c.1891C>T	c.(1891-1893)Cga>Tga	p.R631*	DQX1_ENST00000393951.2_Nonsense_Mutation_p.R631*	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	631						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTGCGGCTTCGGTAGCAGCAG	0.512																																																	0													86.0	90.0	89.0					2																	74746273		2203	4300	6503	SO:0001587	stop_gained	0			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1891C>T	2.37:g.74746273G>A	ENSP00000384621:p.Arg631*		Q6B017|Q8NAM8	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.R631*	ENST00000404568.3	37	c.1891	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	G	34	5.315583	0.95655	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	.	.	.	5.44	1.18	0.20946	.	0.136757	0.31897	N	0.006898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-21.9696	8.3725	0.32423	0.0784:0.0:0.3615:0.5601	.	.	.	.	X	631	.	ENSP00000377523:R631X	R	-	1	2	DQX1	74599781	0.537000	0.26386	0.931000	0.37212	0.558000	0.35554	0.740000	0.26188	0.208000	0.20626	0.655000	0.94253	CGA	DQX1	-	pfam_DUF1605	ENSG00000144045		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	-	0.00	40	0	G	NM_133637		74746273	-1	tier1	-	no_errors	ENST00000393951	ensembl	human	known	74_37	nonsense	9.52	57	6	SNP	0.136	A
DYNC2H1	79659	genome.wustl.edu	37	11	103187341	103187341	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:103187341delT	ENST00000375735.2	+	80	11861	c.11717delT	c.(11716-11718)cttfs	p.L3906fs	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.L3913fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3906					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATTGACAGACTTTTTGATGGT	0.279																																																	0													40.0	36.0	37.0					11																	103187341		1766	4027	5793	SO:0001589	frameshift_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11717delT	11.37:g.103187341delT	ENSP00000364887:p.Leu3906fs		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F3914fs	ENST00000375735.2	37	c.11738	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy_dom	ENSG00000187240		0.279	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1		0.00	16	0	T	XM_370652		103187341	+1	tier1		no_errors	ENST00000398093	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.997	-
DYNC2H1	79659	genome.wustl.edu	37	11	102991476	102991476	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:102991476A>T	ENST00000375735.2	+	8	1337	c.1193A>T	c.(1192-1194)aAa>aTa	p.K398I	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.K398I|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K398I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	398	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCGGAACAAAAAATAGCAGGA	0.308																																																	0													30.0	29.0	29.0					11																	102991476		1799	4057	5856	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1193A>T	11.37:g.102991476A>T	ENSP00000364887:p.Lys398Ile		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K398I	ENST00000375735.2	37	c.1193	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096146	0.56075	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.56611	0.45;0.45;0.45	5.2	4.07	0.47477	Dynein heavy chain, domain-1 (1);	1.145470	0.07124	U	0.844426	T	0.60741	0.2292	L	0.60455	1.87	0.43457	D	0.99565	P;P;P	0.46220	0.874;0.741;0.551	P;B;B	0.48840	0.592;0.37;0.196	T	0.49969	-0.8882	10	0.72032	D	0.01	.	11.0888	0.48104	0.9268:0.0:0.0732:0.0	.	398;398;398	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	I	398	ENSP00000364887:K398I;ENSP00000334021:K398I;ENSP00000381167:K398I	ENSP00000334021:K398I	K	+	2	0	DYNC2H1	102496686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.870000	0.92336	0.924000	0.37069	0.528000	0.53228	AAA	DYNC2H1	-	pfam_Dynein_heavy_dom-1	ENSG00000187240		0.308	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1		0.00	11	0	A	XM_370652		102991476	+1			no_errors	ENST00000398093	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T
DYRK4	8798	genome.wustl.edu	37	12	4700374	4700374	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:4700374G>A	ENST00000540757.2	+	3	188	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	DYRK4_ENST00000543431.1_Missense_Mutation_p.E10K|DYRK4_ENST00000010132.5_Missense_Mutation_p.E10K	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	10						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAAGGCTTCAGAAATACCTTT	0.483																																																	0													85.0	78.0	80.0					12																	4700374		2203	4300	6503	SO:0001583	missense	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.28G>A	12.37:g.4700374G>A	ENSP00000441755:p.Glu10Lys		A8K8F7|Q8NEF2|Q92631	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	p.E10K	ENST00000540757.2	37	c.28	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559115	0.65538	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64438	-0.06;-0.1;-0.1;-0.1	4.34	4.34	0.51931	.	1.982340	0.02604	N	0.101343	T	0.75443	0.3850	L	0.57536	1.79	0.80722	D	1	P;P;D	0.61697	0.827;0.557;0.99	B;B;P	0.57620	0.359;0.085;0.824	T	0.62666	-0.6806	10	0.46703	T	0.11	.	13.0711	0.59061	0.0:0.0:1.0:0.0	.	125;10;10	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	K	125;10;10;10	ENSP00000437534:E125K;ENSP00000441755:E10K;ENSP00000010132:E10K;ENSP00000439697:E10K	ENSP00000010132:E10K	E	+	1	0	DYRK4	4570635	0.991000	0.36638	0.255000	0.24374	0.469000	0.32828	2.427000	0.44740	2.359000	0.80004	0.505000	0.49811	GAA	DYRK4	-	NULL	ENSG00000010219		0.483	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	HGNC	protein_coding	OTTHUMT00000398780.2	-	0.00	48	0	G			4700374	+1	tier1	-	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	43.64	31	24	SNP	0.193	A
EIF2B2	8892	genome.wustl.edu	37	14	75470393	75470393	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:75470393G>C	ENST00000266126.5	+	3	504	c.424G>C	c.(424-426)Gtg>Ctg	p.V142L	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	142					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGAGCTGCTAGTGGAGCTGGG	0.502																																																	0													81.0	70.0	73.0					14																	75470393		2203	4300	6503	SO:0001583	missense	0				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.424G>C	14.37:g.75470393G>C	ENSP00000266126:p.Val142Leu		O43201	Missense_Mutation	SNP	pfam_IF-2B-related	p.V142L	ENST00000266126.5	37	c.424	CCDS9836.1	14	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324117	0.41197	.	.	ENSG00000119718	ENST00000266126	D	0.92397	-3.03	5.57	4.48	0.54585	.	0.108090	0.64402	D	0.000007	T	0.80428	0.4621	N	0.08118	0	0.34390	D	0.69403	B	0.13594	0.008	B	0.18263	0.021	T	0.77016	-0.2744	10	0.28530	T	0.3	-24.8471	6.4417	0.21853	0.2601:0.0:0.7399:0.0	.	142	P49770	EI2BB_HUMAN	L	142	ENSP00000266126:V142L	ENSP00000266126:V142L	V	+	1	0	EIF2B2	74540146	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	3.223000	0.51231	2.604000	0.88044	0.561000	0.74099	GTG	EIF2B2	-	pfam_IF-2B-related	ENSG00000119718		0.502	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B2	HGNC	protein_coding	OTTHUMT00000414993.1	-	0.00	76	0	G	NM_014239		75470393	+1	tier1	-	no_errors	ENST00000266126	ensembl	human	known	74_37	missense	9.89	82	9	SNP	0.996	C
EMP2	2013	genome.wustl.edu	37	16	10625605	10625606	+	3'UTR	INS	-	-	ATGA	rs151287012|rs111364972|rs149380057		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:10625605_10625606insATGA	ENST00000359543.3	-	0	1869_1870				EMP2_ENST00000566033.1_5'UTR|RP11-27M24.1_ENST00000535363.1_RNA	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2						cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						GATTTATGTTGatgaatgaatg	0.46																																					GBM(158;2021 2691 14714 39478)												0																																										SO:0001624	3_prime_UTR_variant	0			U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.*1157->TCAT	16.37:g.10625610_10625613dupATGA			B2R7V6|D3DUF8	RNA	INS	-	NULL	ENST00000359543.3	37	NULL	CCDS10541.1	16																																																																																			EMP2	-	-	ENSG00000213853		0.460	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP2	HGNC	protein_coding	OTTHUMT00000251965.1		0.00	16	0	-	NM_001424		10625606	-1	tier1		no_errors	ENST00000566033	ensembl	human	putative	74_37	rna	36.84	12	7	INS	0.088:0.092	ATGA
ANKRD20A4	728747	genome.wustl.edu	37	9	69380374	69380374	+	5'Flank	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:69380374G>A	ENST00000357336.3	+	0	0				CR769776.1_ENST00000414341.2_Silent_p.P19P	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4											breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGCGACCTGAGGGCCGTCCAG	0.632																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855		9.37:g.69380374G>A	Exception_encountered			Silent	SNP	NULL	p.P19	ENST00000357336.3	37	c.57	CCDS43828.1	9																																																																																			CR769776.1	-	NULL	ENSG00000204788		0.632	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000204788	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000143287.3		0.00	160	0	G	NM_001098805		69380374	-1			no_errors	ENST00000414341	ensembl	human	known	74_37	silent	8.09	159	14	SNP	0.057	A
RP11-43F13.4	0	genome.wustl.edu	37	5	1004311	1004314	+	lincRNA	DEL	GTGT	GTGT	-	rs3083863|rs72705193|rs57997780|rs61651856	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	GTGT	GTGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:1004311_1004314delGTGT	ENST00000606540.1	+	0	0				AC116351.2_ENST00000408317.1_RNA																							GGGGACgtgggtgtgtgtgtgtgt	0.588																																																	0																																												0																															5.37:g.1004319_1004322delGTGT				RNA	DEL	-	NULL	ENST00000606540.1	37	NULL		5																																																																																			AC116351.2	-	-	ENSG00000221244		0.588	RP11-43F13.4-001	KNOWN	basic	lincRNA	ENSG00000221244	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000470457.1		0.00	24	0	GTGT			1004314	+1	tier1		no_errors	ENST00000408317	ensembl	human	novel	74_37	rna	17.31	43	9	DEL	0.057:0.050:0.043:0.036	-
MUC3A	4584	genome.wustl.edu	37	7	100607930	100607930	+	Intron	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:100607930G>A	ENST00000319509.7	+	5	2041				RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGGGCCTGAGGTGTCACCCC	0.662																																																	0													13.0	12.0	13.0					7																	100607930		874	1989	2863	SO:0001627	intron_variant	0			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2041+36G>A	7.37:g.100607930G>A			O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	-	NULL	ENST00000319509.7	37	NULL		7																																																																																			RP11-395B7.2	-	-	ENSG00000225946		0.662	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	ENSG00000225946	Clone_based_vega_gene	protein_coding	OTTHUMT00000347215.1	-	0.00	35	0	G	XM_001725354		100607930	-1	tier1	-	no_errors	ENST00000420080	ensembl	human	known	74_37	rna	27.27	24	9	SNP	0.001	A
MUC3A	4584	genome.wustl.edu	37	7	100608572	100608572	+	Intron	SNP	G	G	C	rs10251414		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:100608572G>C	ENST00000319509.7	+	7	2107				RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAGGGTGCTGGGGGTGGCCTC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		15127	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	0			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2108-157G>C	7.37:g.100608572G>C			O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	-	NULL	ENST00000319509.7	37	NULL		7																																																																																			RP11-395B7.2	-	-	ENSG00000225946		0.617	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	ENSG00000225946	Clone_based_vega_gene	protein_coding	OTTHUMT00000347215.1	-	0.00	11	0	G	XM_001725354		100608572	-1	tier1	rs10251414	no_errors	ENST00000420080	ensembl	human	known	74_37	rna	50.00	14	14	SNP	0.003	C
LOC100631378	100631378	genome.wustl.edu	37	19	38321017	38321017	+	lincRNA	SNP	G	G	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:38321017G>C	ENST00000443870.1	+	0	827				AC016582.2_ENST00000592640.1_lincRNA																							TGATTCTGAAGATGTCAGAAA	0.473																																																	0																																												0																															19.37:g.38321017G>C				RNA	SNP	-	NULL	ENST00000443870.1	37	NULL		19																																																																																			CTD-2554C21.3	-	-	ENSG00000229481		0.473	CTD-2554C21.3-001	KNOWN	basic	lincRNA	ENSG00000229481	Clone_based_vega_gene	lincRNA	OTTHUMT00000459795.1	-	0.00	43	0	G			38321017	+1	tier1	-	no_errors	ENST00000443870	ensembl	human	known	74_37	rna	36.73	31	18	SNP	0.000	C
KCNC2	3747	genome.wustl.edu	37	12	75435987	75435987	+	3'UTR	DEL	T	T	-	rs537467144		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:75435987delT	ENST00000549446.1	-	0	3495				KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000350228.2_Intron|RP11-81K13.1_ENST00000550049.1_RNA|RP11-81K13.1_ENST00000549762.1_RNA	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ACCCTGGGTATTTTTTTTTTT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*898A>-	12.37:g.75435987delT			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	RNA	DEL	-	NULL	ENST00000549446.1	37	NULL	CCDS9007.1	12																																																																																			RP11-81K13.1	-	-	ENSG00000257434		0.373	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257434	Clone_based_vega_gene	protein_coding	OTTHUMT00000405581.2		0.00	18	0	T	NM_153748		75435987	+1	tier1		no_errors	ENST00000547040	ensembl	human	known	74_37	rna	16.00	21	4	DEL	0.005	-
HMGCS1	3157	genome.wustl.edu	37	5	43289821	43289821	+	3'UTR	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:43289821G>A	ENST00000325110.6	-	0	3181				CTD-2636A23.2_ENST00000565748.1_RNA|HMGCS1_ENST00000433297.2_3'UTR|CTD-2636A23.2_ENST00000569313.1_RNA	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)						brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GTTAATATTAGACAAGAGTAT	0.234																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.*1412C>T	5.37:g.43289821G>A			B2RDL8	RNA	SNP	-	NULL	ENST00000325110.6	37	NULL	CCDS34154.1	5																																																																																			CTD-2636A23.2	-	-	ENSG00000261604		0.234	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261604	Clone_based_vega_gene	protein_coding	OTTHUMT00000368022.1	-	0.00	28	0	G			43289821	+1	tier1	-	no_errors	ENST00000565748	ensembl	human	known	74_37	rna	22.73	51	15	SNP	1.000	A
AC015849.16	0	genome.wustl.edu	37	17	34236333	34236333	+	lincRNA	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:34236333G>T	ENST00000587132.1	-	0	1694																											TTTTTCAGGGGTGTAGAATGT	0.468																																																	0																																												0																															17.37:g.34236333G>T				RNA	SNP	-	NULL	ENST00000587132.1	37	NULL		17																																																																																			AC015849.16	-	-	ENSG00000266999		0.468	AC015849.16-001	KNOWN	basic	lincRNA	ENSG00000266999	Clone_based_vega_gene	lincRNA	OTTHUMT00000449325.1	-	0.00	71	0	G			34236333	-1	tier1	-	no_errors	ENST00000587132	ensembl	human	known	74_37	rna	35.00	39	21	SNP	0.000	T
PPP1R3E	90673	genome.wustl.edu	37	14	23764733	23764733	+	IGR	DEL	A	A	-			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:23764733delA	ENST00000452015.4	-	0	4773				HOMEZ_ENST00000561013.1_Intron|RP11-124D2.7_ENST00000604456.1_RNA|PPP1R3E_ENST00000561426.1_5'Flank|HOMEZ_ENST00000431326.2_5'Flank	NM_001276318.1	NP_001263247.1	Q9H7J1	PPR3E_HUMAN	protein phosphatase 1, regulatory subunit 3E						glycogen metabolic process (GO:0005977)												CTTCATTCTTAAAAAAAAAAA	0.403																																																	0																																										SO:0001628	intergenic_variant	0			AK024489	CCDS61403.1	14q11.2	2013-01-29	2011-10-04		ENSG00000235194	ENSG00000235194		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14943	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3E"""			11948623, 15752363	Standard	NM_001276318		Approved	FLJ00089	uc031qns.1	Q9H7J1	OTTHUMG00000172116		14.37:g.23764733delA			D3DS47	RNA	DEL	-	NULL	ENST00000452015.4	37	NULL		14																																																																																			RP11-124D2.7	-	-	ENSG00000270433		0.403	PPP1R3E-001	KNOWN	NMD_exception|basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000270433	Clone_based_vega_gene	protein_coding	OTTHUMT00000416883.2		0.00	20	0	A			23764733	+1	tier1		no_errors	ENST00000604456	ensembl	human	known	74_37	rna	14.29	18	3	DEL	0.835	-
EPS15L1	58513	genome.wustl.edu	37	19	16536019	16536019	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:16536019C>T	ENST00000248070.6	-	9	806	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	EPS15L1_ENST00000602009.1_Missense_Mutation_p.V69I|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V223I|EPS15L1_ENST00000455140.2_Missense_Mutation_p.V223I|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V223I|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V223I	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	223	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGGACGGGGACGGCGCCAGGG	0.682																																																	0													41.0	41.0	41.0					19																	16536019		2203	4299	6502	SO:0001583	missense	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.667G>A	19.37:g.16536019C>T	ENSP00000248070:p.Val223Ile		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.V223I	ENST00000248070.6	37	c.667	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333836	0.60853	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.32515	1.84;1.82;1.45	4.77	4.77	0.60923	.	0.065898	0.64402	D	0.000014	T	0.23451	0.0567	L	0.27053	0.805	0.53688	D	0.99997	P;B;D;D;P;P	0.53151	0.597;0.448;0.958;0.958;0.785;0.808	B;B;B;B;B;B	0.41271	0.079;0.1;0.352;0.352;0.121;0.338	T	0.02491	-1.1151	10	0.27082	T	0.32	.	16.9635	0.86279	0.0:1.0:0.0:0.0	.	223;223;222;223;223;223	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	I	223	ENSP00000393313:V223I;ENSP00000248070:V223I;ENSP00000440103:V223I	ENSP00000248070:V223I	V	-	1	0	EPS15L1	16397019	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	5.699000	0.68310	2.488000	0.83962	0.561000	0.74099	GTC	EPS15L1	-	NULL	ENSG00000127527		0.682	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	-	0.00	25	0	C	NM_021235		16536019	-1	tier1	-	no_errors	ENST00000455140	ensembl	human	known	74_37	missense	31.91	32	15	SNP	1.000	T
EYA1	2138	genome.wustl.edu	37	8	72129031	72129031	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:72129031C>T	ENST00000340726.3	-	14	1895	c.1256G>A	c.(1255-1257)tGt>tAt	p.C419Y	EYA1_ENST00000388740.3_Missense_Mutation_p.C386Y|EYA1_ENST00000303824.7_Missense_Mutation_p.C413Y|EYA1_ENST00000419131.1_Missense_Mutation_p.C384Y|EYA1_ENST00000388742.4_Missense_Mutation_p.C419Y|EYA1_ENST00000388741.2_Missense_Mutation_p.C385Y|EYA1_ENST00000388743.2_Missense_Mutation_p.C418Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	419					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGTTGCCAAACATAAGTTAGC	0.438																																																	0													138.0	126.0	130.0					8																	72129031		2203	4300	6503	SO:0001583	missense	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1256G>A	8.37:g.72129031C>T	ENSP00000342626:p.Cys419Tyr		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.C419Y	ENST00000340726.3	37	c.1256	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366053	0.82463	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.44	5.44	0.79542	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.91744	0.7389	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.998;0.998;0.996;0.999	D;D;D;D;D	0.80764	0.994;0.987;0.987;0.994;0.983	D	0.92170	0.5743	10	0.87932	D	0	-18.1281	19.4568	0.94895	0.0:1.0:0.0:0.0	.	413;346;386;419;384	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Y	419;419;387;386;413;385;418;384	ENSP00000373394:C419Y;ENSP00000342626:C419Y;ENSP00000373392:C386Y;ENSP00000303221:C413Y;ENSP00000373393:C385Y;ENSP00000373395:C418Y;ENSP00000410176:C384Y	ENSP00000303221:C413Y	C	-	2	0	EYA1	72291585	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.572000	0.82409	2.832000	0.97577	0.655000	0.94253	TGT	EYA1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000104313		0.438	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	-	0.00	52	0	C	NM_000503, NM_172060		72129031	-1	tier1	-	no_errors	ENST00000340726	ensembl	human	known	74_37	missense	45.00	44	36	SNP	1.000	T
FAM153B	202134	genome.wustl.edu	37	5	175528580	175528580	+	Silent	SNP	C	C	T	rs370575687	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:175528580C>T	ENST00000253490.4	+	12	717	c.660C>T	c.(658-660)gcC>gcT	p.A220A	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Silent_p.A143A|FAM153B_ENST00000515817.1_Silent_p.A143A			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	220										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		ACACACTGGCCGAACGTACGT	0.463													c|||	3	0.000599042	0.0023	0.0	5008	,	,		26052	0.0		0.0	False		,,,				2504	0.0																0								C		4,4402	8.1+/-20.4	0,4,2199	133.0	143.0	140.0		660	-1.1	0.0	5		140	0,8600		0,0,4300	no	coding-synonymous	FAM153B	NM_001079529.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		220/388	175528580	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.660C>T	5.37:g.175528580C>T			A8MTI1	Silent	SNP	prints_FAM153	p.A220	ENST00000253490.4	37	c.660		5																																																																																			FAM153B	-	NULL	ENSG00000182230		0.463	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		-	0.00	91	0	C	NM_001079529		175528580	+1	tier1	-	no_errors	ENST00000253490	ensembl	human	known	74_37	silent	40.98	36	25	SNP	0.000	T
FAM189A1	23359	genome.wustl.edu	37	15	29429289	29429289	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:29429289G>A	ENST00000261275.4	-	6	738	c.739C>T	c.(739-741)Cca>Tca	p.P247S		NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	247	Pro-rich.					integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						TAATAGGGTGGAGGCGGGAGT	0.627																																																	0													36.0	46.0	43.0					15																	29429289		692	1591	2283	SO:0001583	missense	0				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.739C>T	15.37:g.29429289G>A	ENSP00000261275:p.Pro247Ser		A0PK09	Missense_Mutation	SNP	pfam_CD20-like	p.P247S	ENST00000261275.4	37	c.739	CCDS45198.1	15	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463519	0.63513	.	.	ENSG00000104059	ENST00000261275	T	0.03468	3.92	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	M	0.79123	2.44	0.50632	D	0.999885	D	0.89917	1.0	D	0.83275	0.996	T	0.00168	-1.1963	10	0.87932	D	0	-10.9745	18.0974	0.89494	0.0:0.0:1.0:0.0	.	247	O60320	F1891_HUMAN	S	247	ENSP00000261275:P247S	ENSP00000261275:P247S	P	-	1	0	FAM189A1	27216581	1.000000	0.71417	0.211000	0.23655	0.015000	0.08874	9.511000	0.98006	2.507000	0.84556	0.563000	0.77884	CCA	FAM189A1	-	NULL	ENSG00000104059		0.627	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	HGNC	protein_coding	OTTHUMT00000417254.1	-	0.00	51	0	G	NM_015307		29429289	-1	tier1	-	no_errors	ENST00000261275	ensembl	human	known	74_37	missense	36.76	43	25	SNP	1.000	A
FBXO41	150726	genome.wustl.edu	37	2	73491482	73491482	+	Missense_Mutation	SNP	C	C	T	rs374997955		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:73491482C>T	ENST00000521871.1	-	6	2145	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	FBXO41_ENST00000295133.5_Missense_Mutation_p.R638Q|FBXO41_ENST00000520530.2_Missense_Mutation_p.R577Q			Q8TF61	FBX41_HUMAN	F-box protein 41	577										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCGCCAGTCCCGGCAGACCTC	0.632																																																	0								C	GLN/ARG	0,4352		0,0,2176	69.0	76.0	74.0		1730	4.0	1.0	2		74	2,8566		0,2,4282	no	missense	FBXO41	NM_001080410.2	43	0,2,6458	TT,TC,CC		0.0233,0.0,0.0155	possibly-damaging	577/876	73491482	2,12918	2176	4284	6460	SO:0001583	missense	0			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1730G>A	2.37:g.73491482C>T	ENSP00000428646:p.Arg577Gln		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	superfamily_F-box_dom	p.R638Q	ENST00000521871.1	37	c.1913	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461796	0.63513	0.0	2.33E-4	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.28255	1.62;1.62	5.0	4.04	0.47022	F-box domain, Skp2-like (1);	0.254294	0.35525	N	0.003156	T	0.31857	0.0810	M	0.74546	2.27	0.43714	D	0.996181	D	0.53151	0.958	B	0.41440	0.357	T	0.17137	-1.0379	10	0.52906	T	0.07	.	8.7471	0.34594	0.0:0.8553:0.0:0.1447	.	577	Q8TF61	FBX41_HUMAN	Q	638;577	ENSP00000295133:R638Q;ENSP00000428646:R577Q	ENSP00000295133:R638Q	R	-	2	0	FBXO41	73344990	0.999000	0.42202	1.000000	0.80357	0.839000	0.47603	2.901000	0.48695	2.596000	0.87737	0.561000	0.74099	CGG	FBXO41	-	superfamily_F-box_dom	ENSG00000163013		0.632	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	-	0.00	21	0	C			73491482	-1	tier1	-	no_errors	ENST00000295133	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.998	T
FARSB	10056	genome.wustl.edu	37	2	223507595	223507595	+	Silent	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:223507595G>T	ENST00000281828.6	-	3	507	c.244C>A	c.(244-246)Cga>Aga	p.R82R	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	82					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.R82*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TGAAGTCCTCGAACCAATCCT	0.408																																																	1	Substitution - Nonsense(1)	endometrium(1)											106.0	100.0	102.0					2																	223507595		2203	4300	6503	SO:0001819	synonymous_variant	0			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.244C>A	2.37:g.223507595G>T			B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.R82	ENST00000281828.6	37	c.244	CCDS2454.1	2																																																																																			FARSB	-	superfamily_DNA-bd_dom_put,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	ENSG00000116120		0.408	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	HGNC	protein_coding	OTTHUMT00000256855.2	-	0.00	27	0	G	NM_005687		223507595	-1	tier1	-	no_errors	ENST00000281828	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	T
FREM1	158326	genome.wustl.edu	37	9	14851562	14851562	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:14851562G>A	ENST00000380880.3	-	6	1655	c.872C>T	c.(871-873)cCg>cTg	p.P291L	FREM1_ENST00000380881.4_Missense_Mutation_p.P292L|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000422223.2_Missense_Mutation_p.P291L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	291					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.P292L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AATCTGATTCGGAATTCCAGC	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											113.0	112.0	112.0					9																	14851562		1923	4134	6057	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.872C>T	9.37:g.14851562G>A	ENSP00000370262:p.Pro291Leu		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.P292L	ENST00000380880.3	37	c.875	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.351360	0.95830	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10960	2.82;2.82;2.82	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.02378	-1.1168	10	0.54805	T	0.06	-15.6975	20.7342	0.99715	0.0:0.0:1.0:0.0	.	291	Q5H8C1	FREM1_HUMAN	L	292;291;291	ENSP00000370263:P292L;ENSP00000412940:P291L;ENSP00000370262:P291L	ENSP00000370257:P294L	P	-	2	0	FREM1	14841562	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	CCG	FREM1	-	NULL	ENSG00000164946		0.418	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0.00	20	0	G	NM_144966		14851562	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	A
FUBP3	8939	genome.wustl.edu	37	9	133499004	133499004	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:133499004G>A	ENST00000319725.9	+	11	956	c.881G>A	c.(880-882)gGg>gAg	p.G294E		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	294	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TCAGATGATGGGATTAGTCCA	0.507																																																	0													100.0	101.0	101.0					9																	133499004		1960	4172	6132	SO:0001583	missense	0			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.881G>A	9.37:g.133499004G>A	ENSP00000318177:p.Gly294Glu		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.G294E	ENST00000319725.9	37	c.881	CCDS43893.1	9	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827407	0.71143	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	T	0.41065	1.01	5.54	5.54	0.83059	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.70108	2.13	0.53005	D	0.999963	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.996	T	0.56288	-0.8004	10	0.14252	T	0.57	-19.2512	18.4584	0.90729	0.0:0.0:1.0:0.0	.	234;294;294	Q96I24-2;A3KFK8;Q96I24	.;.;FUBP3_HUMAN	E	281;294;234	ENSP00000318177:G294E	ENSP00000318177:G294E	G	+	2	0	FUBP3	132488825	1.000000	0.71417	0.904000	0.35570	0.695000	0.40330	9.571000	0.98176	2.601000	0.87937	0.462000	0.41574	GGG	FUBP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000107164		0.507	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	-	0.00	54	0	G			133499004	+1	tier1	-	no_errors	ENST00000319725	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	A
GAL3ST1	9514	genome.wustl.edu	37	22	30951613	30951613	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:30951613G>A	ENST00000402321.1	-	3	916	c.599C>T	c.(598-600)cCg>cTg	p.P200L	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P200L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P200L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	200					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GTAGCGATCCGGGTCTTGCAG	0.627																																																	0													72.0	65.0	67.0					22																	30951613		2200	4299	6499	SO:0001583	missense	0			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.599C>T	22.37:g.30951613G>A	ENSP00000385735:p.Pro200Leu		Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.P200L	ENST00000402321.1	37	c.599	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479887	0.84747	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.88640	2.97	0.80722	D	1	D	0.59767	0.986	P	0.50825	0.651	T	0.64210	-0.6461	10	0.54805	T	0.06	-23.6209	18.397	0.90502	0.0:0.0:1.0:0.0	.	200	Q99999	G3ST1_HUMAN	L	200;200;200;200;200;200;200;200;201;200	ENSP00000385825:P200L;ENSP00000385735:P200L;ENSP00000384122:P200L;ENSP00000384388:P200L;ENSP00000343234:P200L;ENSP00000385207:P200L;ENSP00000402587:P200L;ENSP00000390545:P200L;ENSP00000395080:P201L;ENSP00000405017:P200L	ENSP00000343234:P200L	P	-	2	0	GAL3ST1	29281613	1.000000	0.71417	0.969000	0.41365	0.837000	0.47467	9.754000	0.98908	2.457000	0.83068	0.484000	0.47621	CCG	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	ENSG00000128242		0.627	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	-	0.00	53	0	G	NM_004861		30951613	-1	tier1	-	no_errors	ENST00000338911	ensembl	human	known	74_37	missense	39.13	28	18	SNP	1.000	A
GFRA1	2674	genome.wustl.edu	37	10	117885013	117885013	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:117885013G>A	ENST00000355422.6	-	6	1039	c.489C>T	c.(487-489)ctC>ctT	p.L163L	GFRA1_ENST00000369236.1_Silent_p.L158L|GFRA1_ENST00000439649.3_Silent_p.L158L|GFRA1_ENST00000544592.1_Silent_p.L42L	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	163					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AAATGTCGTCGAGGTTGCAGG	0.577																																					Ovarian(128;329 1725 45498 46808 50759)												0													66.0	56.0	59.0					10																	117885013		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.489C>T	10.37:g.117885013G>A			A8KA21|O15507|O43912	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.L163	ENST00000355422.6	37	c.489	CCDS44481.1	10																																																																																			GFRA1	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2	ENSG00000151892		0.577	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	-	0.00	35	0	G	NM_145793		117885013	-1	tier1	-	no_errors	ENST00000355422	ensembl	human	known	74_37	silent	30.77	17	8	SNP	0.552	A
GLDC	2731	genome.wustl.edu	37	9	6602180	6602180	+	Missense_Mutation	SNP	G	G	A	rs10975674		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:6602180G>A	ENST00000321612.6	-	8	1234	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	362					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AGAGCAAGACGATACACTTCT	0.448																																																	0													239.0	182.0	201.0					9																	6602180		2203	4300	6503	SO:0001583	missense	0			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1084C>T	9.37:g.6602180G>A	ENSP00000370737:p.Arg362Cys		Q2M2F8	Missense_Mutation	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo	p.R362C	ENST00000321612.6	37	c.1084	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979224	0.92982	.	.	ENSG00000178445	ENST00000321612	D	0.96491	-4.03	4.81	4.81	0.61882	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99474	1.0946	10	0.87932	D	0	-14.8524	18.4464	0.90685	0.0:0.0:1.0:0.0	rs10975674	362	P23378	GCSP_HUMAN	C	362	ENSP00000370737:R362C	ENSP00000370737:R362C	R	-	1	0	GLDC	6592180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.351000	0.79395	2.673000	0.90976	0.555000	0.69702	CGT	GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo	ENSG00000178445		0.448	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	-	0.00	37	0	G	NM_000170		6602180	-1	tier1	rs10975674	no_errors	ENST00000321612	ensembl	human	known	74_37	missense	26.09	33	12	SNP	1.000	A
GLI1	2735	genome.wustl.edu	37	12	57864851	57864851	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:57864851C>T	ENST00000228682.2	+	12	2419	c.2328C>T	c.(2326-2328)acC>acT	p.T776T	GLI1_ENST00000543426.1_Silent_p.T648T|GLI1_ENST00000546141.1_Silent_p.T735T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	776					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTGACCCCACCCAAGAAACAT	0.602																																					Pancreas(157;841 1936 10503 41495 50368)												0													47.0	43.0	44.0					12																	57864851		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2328C>T	12.37:g.57864851C>T			D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T776	ENST00000228682.2	37	c.2328	CCDS8940.1	12																																																																																			GLI1	-	NULL	ENSG00000111087		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	-	0.00	11	0	C	NM_005269		57864851	+1	tier1	-	no_errors	ENST00000228682	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.005	T
GOLGA4	2803	genome.wustl.edu	37	3	37379178	37379178	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:37379178A>T	ENST00000361924.2	+	19	6723	c.6349A>T	c.(6349-6351)Act>Tct	p.T2117S	GOLGA4_ENST00000356847.4_Missense_Mutation_p.T2132S|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2117					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACAGAAGACGACTTTAATCAG	0.368																																																	0													100.0	93.0	96.0					3																	37379178		2203	4300	6503	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6349A>T	3.37:g.37379178A>T	ENSP00000354486:p.Thr2117Ser		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.T2117S	ENST00000361924.2	37	c.6349	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402381	0.42613	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.26223	1.75;1.81;1.78	5.66	4.49	0.54785	.	0.209202	0.24154	N	0.041048	T	0.15998	0.0385	N	0.20986	0.625	0.09310	N	0.999996	B;B;B	0.31193	0.312;0.312;0.156	B;B;B	0.29524	0.103;0.103;0.043	T	0.16897	-1.0387	10	0.25106	T	0.35	.	10.0579	0.42257	0.7313:0.0:0.0:0.2687	.	2117;2132;2117	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	S	2117;2132;1988	ENSP00000354486:T2117S;ENSP00000349305:T2132S;ENSP00000405842:T1988S	ENSP00000349305:T2132S	T	+	1	0	GOLGA4	37354182	0.964000	0.33143	0.005000	0.12908	0.879000	0.50718	3.073000	0.50057	1.055000	0.40461	0.533000	0.62120	ACT	GOLGA4	-	NULL	ENSG00000144674		0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	-	0.00	40	0	A	NM_002078		37379178	+1	tier1	-	no_errors	ENST00000361924	ensembl	human	known	74_37	missense	21.15	41	11	SNP	0.201	T
GRIA1	2890	genome.wustl.edu	37	5	153035396	153035396	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:153035396G>C	ENST00000285900.5	+	5	1006	c.663G>C	c.(661-663)aaG>aaC	p.K221N	GRIA1_ENST00000521843.2_Missense_Mutation_p.K152N|GRIA1_ENST00000518783.1_Missense_Mutation_p.K231N|GRIA1_ENST00000340592.5_Missense_Mutation_p.K221N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K141N|GRIA1_ENST00000448073.4_Missense_Mutation_p.K231N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	221					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGCTAGAGAAGAATGGCATCG	0.433																																																	0													128.0	117.0	121.0					5																	153035396		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.663G>C	5.37:g.153035396G>C	ENSP00000285900:p.Lys221Asn		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K231N	ENST00000285900.5	37	c.693	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285447	0.40394	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.74	3.85	0.44370	Extracellular ligand-binding receptor (1);	0.047273	0.85682	D	0.000000	T	0.77678	0.4166	L	0.61218	1.895	0.54753	D	0.99998	B;B;B;B;B;B	0.14805	0.009;0.009;0.005;0.009;0.003;0.011	B;B;B;B;B;B	0.23018	0.012;0.012;0.012;0.012;0.004;0.043	T	0.75405	-0.3329	10	0.52906	T	0.07	.	5.3254	0.15903	0.2773:0.0:0.7227:0.0	.	231;231;141;231;221;221	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	N	221;221;141;175;221;152;152;231;231	ENSP00000285900:K221N;ENSP00000427920:K141N;ENSP00000339343:K221N;ENSP00000427864:K152N;ENSP00000442108:K152N;ENSP00000428994:K231N;ENSP00000415569:K231N	ENSP00000285900:K221N	K	+	3	2	GRIA1	153015589	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.078000	0.41567	2.339000	0.79563	0.551000	0.68910	AAG	GRIA1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000155511		0.433	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0.00	60	0	G			153035396	+1	tier1	-	no_errors	ENST00000448073	ensembl	human	known	74_37	missense	27.12	43	16	SNP	1.000	C
GRM8	2918	genome.wustl.edu	37	7	126882955	126882955	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:126882955T>C	ENST00000339582.2	-	2	1112	c.304A>G	c.(304-306)Atc>Gtc	p.I102V	GRM8_ENST00000405249.1_Missense_Mutation_p.I102V|GRM8_ENST00000444921.2_Missense_Mutation_p.I102V|GRM8_ENST00000358373.3_Missense_Mutation_p.I102V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	102					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTGTCGAGGATGCGGACACCC	0.478										HNSCC(24;0.065)																																							0													119.0	92.0	101.0					7																	126882955		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.304A>G	7.37:g.126882955T>C	ENSP00000344173:p.Ile102Val		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.I102V	ENST00000339582.2	37	c.304	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518285	0.64634	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	M	0.83692	2.655	0.58432	D	0.999992	B;P	0.45011	0.002;0.848	B;P	0.61328	0.005;0.887	T	0.81684	-0.0821	10	0.59425	D	0.04	.	15.8056	0.78506	0.0:0.0:0.0:1.0	.	102;102	O00222-2;O00222	.;GRM8_HUMAN	V	102	ENSP00000344173:I102V;ENSP00000409790:I102V;ENSP00000351142:I102V;ENSP00000385731:I102V;ENSP00000415522:I102V	ENSP00000344173:I102V	I	-	1	0	GRM8	126670191	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.276000	0.72601	2.323000	0.78572	0.528000	0.53228	ATC	GRM8	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000179603		0.478	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	-	0.00	31	0	T			126882955	-1	tier1	-	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	C
BGLT3	103344929	genome.wustl.edu	37	11	5264410	5264410	+	RNA	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:5264410C>A	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							CCTTTGAGGTCATCCGTGAGC	0.498																																																	0																																												0																															11.37:g.5264410C>A				RNA	SNP	-	NULL	ENST00000564523.1	37	NULL		11																																																																																			HBBP1	-	-	ENSG00000229988		0.498	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	HBBP1	HGNC	sense_overlapping	OTTHUMT00000422245.1	-	0.00	91	0	C			5264410	-1	tier1	-	no_errors	ENST00000454892	ensembl	human	known	74_37	rna	41.67	56	40	SNP	0.903	A
HECTD1	25831	genome.wustl.edu	37	14	31647370	31647370	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:31647370G>A	ENST00000399332.1	-	3	719	c.231C>T	c.(229-231)gcC>gcT	p.A77A	HECTD1_ENST00000553700.1_Silent_p.A77A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	77					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTATGTTATGGCACGGGCTG	0.433																																																	0													140.0	130.0	133.0					14																	31647370		1905	4122	6027	SO:0001819	synonymous_variant	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.231C>T	14.37:g.31647370G>A			D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.A77	ENST00000399332.1	37	c.231	CCDS41939.1	14																																																																																			HECTD1	-	superfamily_ARM-type_fold	ENSG00000092148		0.433	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	-	0.00	49	0	G			31647370	-1	tier1	-	no_errors	ENST00000399332	ensembl	human	known	74_37	silent	12.00	66	9	SNP	1.000	A
HERPUD2	64224	genome.wustl.edu	37	7	35707194	35707194	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:35707194G>A	ENST00000396081.1	-	4	1148	c.344C>T	c.(343-345)tCa>tTa	p.S115L	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S115L|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	115	Ser-rich.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGAATGATCTGAACTCTACAA	0.358																																																	0													70.0	67.0	68.0					7																	35707194		2203	4300	6503	SO:0001583	missense	0			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.344C>T	7.37:g.35707194G>A	ENSP00000379390:p.Ser115Leu		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.S115L	ENST00000396081.1	37	c.344	CCDS5446.1	7	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882895	0.51908	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517;ENST00000427455	T;T;T;T;T	0.40225	2.71;2.71;1.04;1.79;1.04	5.26	5.26	0.73747	.	0.493182	0.22698	N	0.056727	T	0.29914	0.0748	N	0.22421	0.69	0.40924	D	0.984336	B	0.06786	0.001	B	0.04013	0.001	T	0.07927	-1.0747	10	0.36615	T	0.2	-11.8647	12.6864	0.56949	0.0862:0.0:0.9138:0.0	.	115	Q9BSE4	HERP2_HUMAN	L	115;115;51;89;51	ENSP00000379390:S115L;ENSP00000310729:S115L;ENSP00000415475:S51L;ENSP00000391015:S89L;ENSP00000412895:S51L	ENSP00000310729:S115L	S	-	2	0	HERPUD2	35673719	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.086000	0.50159	2.448000	0.82819	0.655000	0.94253	TCA	HERPUD2	-	NULL	ENSG00000122557		0.358	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERPUD2	HGNC	protein_coding	OTTHUMT00000250584.1	-	0.00	44	0	G	NM_022373		35707194	-1	tier1	-	no_errors	ENST00000311350	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	A
HIVEP2	3097	genome.wustl.edu	37	6	143095791	143095791	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:143095791C>T	ENST00000367604.1	-	4	724	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	HIVEP2_ENST00000367603.2_Missense_Mutation_p.E29K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E29K			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCTGATTGTTCCTGTCTCCAT	0.458																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													212.0	207.0	209.0					6																	143095791		2026	4198	6224	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.85G>A	6.37:g.143095791C>T	ENSP00000356576:p.Glu29Lys		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E29K	ENST00000367604.1	37	c.85	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520305	0.85495	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03212	4.01;4.01;4.01	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	L	0.56769	1.78	0.53688	D	0.999973	D	0.58268	0.982	P	0.56088	0.791	T	0.09100	-1.0690	10	0.51188	T	0.08	-27.1807	19.8917	0.96932	0.0:1.0:0.0:0.0	.	29	P31629	ZEP2_HUMAN	K	29	ENSP00000356576:E29K;ENSP00000356575:E29K;ENSP00000012134:E29K	ENSP00000012134:E29K	E	-	1	0	HIVEP2	143137484	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.828000	0.75308	2.776000	0.95493	0.650000	0.86243	GAA	HIVEP2	-	NULL	ENSG00000010818		0.458	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	-	0.00	64	0	C			143095791	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	185992214	185992214	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:185992214C>G	ENST00000271588.4	+	36	5907	c.5678C>G	c.(5677-5679)gCt>gGt	p.A1893G	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1893G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1893	Ig-like C2-type 16.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGGAAGATGCTGGCAGATAC	0.413																																																	0													127.0	124.0	125.0					1																	185992214		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5678C>G	1.37:g.185992214C>G	ENSP00000271588:p.Ala1893Gly		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A1893G	ENST00000271588.4	37	c.5678	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408170	0.62399	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68624	-0.34;-0.34	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104211	0.64402	D	0.000004	T	0.63908	0.2551	L	0.33093	0.98	0.51482	D	0.999922	P	0.41420	0.749	B	0.44108	0.441	T	0.62932	-0.6749	10	0.38643	T	0.18	.	19.4215	0.94723	0.0:1.0:0.0:0.0	.	1893	Q96RW7	HMCN1_HUMAN	G	1893	ENSP00000271588:A1893G;ENSP00000356462:A1893G	ENSP00000271588:A1893G	A	+	2	0	HMCN1	184258837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.452000	0.80683	2.578000	0.87016	0.644000	0.83932	GCT	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	32	0	C	NM_031935		185992214	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	26.00	37	13	SNP	1.000	G
HNRNPF	3185	genome.wustl.edu	37	10	43882851	43882851	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:43882851G>A	ENST00000544000.1	-	4	889	c.482C>T	c.(481-483)tCg>tTg	p.S161L	HNRNPF_ENST00000337970.3_Missense_Mutation_p.S161L|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Missense_Mutation_p.S161L|HNRNPF_ENST00000357065.4_Missense_Mutation_p.S161L|HNRNPF_ENST00000356053.3_Missense_Mutation_p.S161L	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	161	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TAACTCCTGCGAGGCAAACTG	0.512																																																	0													119.0	111.0	114.0					10																	43882851		2203	4300	6503	SO:0001583	missense	0				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.482C>T	10.37:g.43882851G>A	ENSP00000438061:p.Ser161Leu		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.S161L	ENST00000544000.1	37	c.482	CCDS7204.1	10	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406983	0.62399	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	4.17	3.27	0.37495	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.075071	0.56097	D	0.000022	T	0.49047	0.1534	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55792	-0.8085	10	0.66056	D	0.02	-18.1595	10.1902	0.43021	0.0993:0.0:0.9007:0.0	.	161	P52597	HNRPF_HUMAN	L	161;161;161;161;161;84	ENSP00000438061:S161L;ENSP00000400433:S161L;ENSP00000348345:S161L;ENSP00000349573:S161L;ENSP00000338477:S161L	ENSP00000338477:S161L	S	-	2	0	HNRNPF	43202857	1.000000	0.71417	0.838000	0.33150	0.952000	0.60782	8.811000	0.91954	1.350000	0.45770	0.655000	0.94253	TCG	HNRNPF	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000169813		0.512	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPF	HGNC	protein_coding	OTTHUMT00000047705.2	-	0.00	44	0	G			43882851	-1	tier1	-	no_errors	ENST00000337970	ensembl	human	known	74_37	missense	12.00	66	9	SNP	0.996	A
IER5	51278	genome.wustl.edu	37	1	181058830	181058830	+	Silent	SNP	G	G	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:181058830G>C	ENST00000367577.4	+	1	1193	c.792G>C	c.(790-792)ggG>ggC	p.G264G	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	264										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						TGGAGACCGGGAACGTGGCTA	0.662																																																	0													38.0	37.0	38.0					1																	181058830		2202	4298	6500	SO:0001819	synonymous_variant	0			BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.792G>C	1.37:g.181058830G>C			B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Silent	SNP	pfam_IER	p.G264	ENST00000367577.4	37	c.792	CCDS1343.1	1																																																																																			IER5	-	pfam_IER	ENSG00000162783		0.662	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER5	HGNC	protein_coding	OTTHUMT00000085142.1	-	0.00	33	0	G	NM_016545		181058830	+1	tier1	-	no_errors	ENST00000367577	ensembl	human	known	74_37	silent	25.00	45	15	SNP	0.988	C
IGLON5	402665	genome.wustl.edu	37	19	51830117	51830117	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:51830117C>T	ENST00000270642.8	+	5	611	c.611C>T	c.(610-612)gCg>gTg	p.A204V		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	204	Ig-like C2-type 2.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						GTTAACTCGGCGCCCGACAGC	0.667																																																	0													8.0	11.0	10.0					19																	51830117		1846	4067	5913	SO:0001583	missense	0				CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.611C>T	19.37:g.51830117C>T	ENSP00000270642:p.Ala204Val			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A204V	ENST00000270642.8	37	c.611	CCDS46158.1	19	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980865	0.53827	.	.	ENSG00000142549	ENST00000270642	T	0.36520	1.25	4.36	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.241411	0.41938	D	0.000792	T	0.27205	0.0667	L	0.31157	0.91	0.32272	N	0.568751	B	0.24368	0.102	B	0.31245	0.126	T	0.28332	-1.0047	10	0.45353	T	0.12	-23.5762	8.1063	0.30887	0.0:0.8929:0.0:0.1071	.	204	A6NGN9	IGLO5_HUMAN	V	204	ENSP00000270642:A204V	ENSP00000270642:A204V	A	+	2	0	IGLON5	56521929	0.010000	0.17322	0.997000	0.53966	0.956000	0.61745	0.702000	0.25631	2.278000	0.76064	0.563000	0.77884	GCG	IGLON5	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000142549		0.667	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGLON5	HGNC	protein_coding	OTTHUMT00000335149.1	-	0.00	50	0	C	NM_001101372		51830117	+1	tier1	-	no_errors	ENST00000270642	ensembl	human	known	74_37	missense	49.21	31	31	SNP	0.997	T
INPP1	3628	genome.wustl.edu	37	2	191236040	191236040	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:191236040G>A	ENST00000322522.4	+	6	1568	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	INPP1_ENST00000541441.1_Missense_Mutation_p.G371E|INPP1_ENST00000392329.2_Missense_Mutation_p.G371E	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	371					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			AACAAGGGAGGACTCATTGCA	0.527																																					Melanoma(130;184 1743 2185 19805 38428)												0													68.0	66.0	67.0					2																	191236040		2203	4300	6503	SO:0001583	missense	0				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.1112G>A	2.37:g.191236040G>A	ENSP00000325423:p.Gly371Glu			Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.G371E	ENST00000322522.4	37	c.1112	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961893	0.92791	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	T;T;T	0.30981	1.51;1.51;1.51	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71170	-0.4671	10	0.87932	D	0	-19.8006	16.325	0.82975	0.0:0.0:1.0:0.0	.	371	P49441	INPP_HUMAN	E	371	ENSP00000376142:G371E;ENSP00000325423:G371E;ENSP00000440650:G371E	ENSP00000325423:G371E	G	+	2	0	INPP1	190944285	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	8.418000	0.90250	2.720000	0.93068	0.555000	0.69702	GGA	INPP1	-	pfam_Inositol_monophosphatase	ENSG00000151689		0.527	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2		0.00	20	0	G			191236040	+1			no_errors	ENST00000322522	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A
INO80D	54891	genome.wustl.edu	37	2	206911274	206911274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:206911274G>A	ENST00000403263.1	-	5	1431	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	343					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CATGCAACCTGGTAGGGCGAG	0.463																																																	0													81.0	80.0	81.0					2																	206911274		1892	4105	5997	SO:0001587	stop_gained	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1027C>T	2.37:g.206911274G>A	ENSP00000384198:p.Gln343*		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Nonsense_Mutation	SNP	NULL	p.Q343*	ENST00000403263.1	37	c.1027	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.666826	0.98908	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	.	.	.	5.54	5.54	0.83059	.	0.054387	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	17.6519	0.88167	0.0:0.0:1.0:0.0	.	.	.	.	X	343;343;238	.	ENSP00000233270:Q343X	Q	-	1	0	INO80D	206619519	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.525000	0.81892	2.619000	0.88677	0.655000	0.94253	CAG	INO80D	-	NULL	ENSG00000114933		0.463	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	-	0.00	28	0	G	NM_017759		206911274	-1	tier1	-	no_errors	ENST00000403263	ensembl	human	known	74_37	nonsense	33.33	14	7	SNP	1.000	A
IRF2BPL	64207	genome.wustl.edu	37	14	77492176	77492176	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:77492176G>A	ENST00000238647.3	-	1	2858	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	654					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CTGTTTCGCCGCGCCGACGCA	0.672																																																	0													16.0	17.0	17.0					14																	77492176		2183	4278	6461	SO:0001583	missense	0			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1960C>T	14.37:g.77492176G>A	ENSP00000238647:p.Arg654Trp		Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.R654W	ENST00000238647.3	37	c.1960	CCDS9854.1	14	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299900	0.40694	.	.	ENSG00000119669	ENST00000238647	T	0.70516	-0.49	4.3	-1.89	0.07689	.	0.168662	0.37012	U	0.002299	T	0.78521	0.4296	L	0.57536	1.79	0.38758	D	0.954259	D	0.89917	1.0	D	0.91635	0.999	T	0.77981	-0.2383	10	0.66056	D	0.02	.	14.014	0.64513	0.0:0.0:0.3325:0.6675	.	654	Q9H1B7	I2BPL_HUMAN	W	654	ENSP00000238647:R654W	ENSP00000238647:R654W	R	-	1	2	IRF2BPL	76561929	0.251000	0.23961	0.020000	0.16555	0.694000	0.40290	0.285000	0.18883	-0.658000	0.05366	0.462000	0.41574	CGG	IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000119669		0.672	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	-	0.00	12	0	G	NM_024496		77492176	-1	tier1	-	no_errors	ENST00000238647	ensembl	human	known	74_37	missense	56.52	10	13	SNP	0.393	A
ITGA9	3680	genome.wustl.edu	37	3	37845392	37845392	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:37845392G>C	ENST00000264741.5	+	27	3224	c.2968G>C	c.(2968-2970)Gga>Cga	p.G990R	AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000450990.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	990					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTTGTTGGTGGGAATCCTCAT	0.597																																																	0													217.0	160.0	179.0					3																	37845392		2203	4300	6503	SO:0001583	missense	0			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2968G>C	3.37:g.37845392G>C	ENSP00000264741:p.Gly990Arg		Q14638	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G990R	ENST00000264741.5	37	c.2968	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.216457	0.95104	.	.	ENSG00000144668	ENST00000264741	T	0.24350	1.86	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70908	-0.4744	10	0.87932	D	0	.	17.9508	0.89052	0.0:0.0:1.0:0.0	.	990	Q13797	ITA9_HUMAN	R	990	ENSP00000264741:G990R	ENSP00000264741:G990R	G	+	1	0	ITGA9	37820396	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.597000	0.98273	2.546000	0.85860	0.563000	0.77884	GGA	ITGA9	-	prints_Integrin_alpha	ENSG00000144668		0.597	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	-	0.00	60	0	G	NM_002207		37845392	+1	tier1	-	no_errors	ENST00000264741	ensembl	human	known	74_37	missense	51.06	46	48	SNP	1.000	C
IVL	3713	genome.wustl.edu	37	1	152883289	152883289	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:152883289A>G	ENST00000368764.3	+	2	1080	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	IVL_ENST00000392667.2_Missense_Mutation_p.Q193R			P07476	INVO_HUMAN	involucrin	339	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctggaggagcaggaggggcag	0.667																																																	0													15.0	15.0	15.0					1																	152883289		2121	4183	6304	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1016A>G	1.37:g.152883289A>G	ENSP00000357753:p.Gln339Arg		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q339R	ENST00000368764.3	37	c.1016	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	A	9.592	1.126482	0.20959	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11495	3.0;2.77	3.12	-1.16	0.09678	.	.	.	.	.	T	0.04543	0.0124	L	0.48642	1.525	0.09310	N	1	P	0.47841	0.901	P	0.51974	0.686	T	0.29336	-1.0015	9	0.16420	T	0.52	.	4.6761	0.12712	0.515:0.361:0.124:0.0	.	339	P07476	INVO_HUMAN	R	339;193	ENSP00000357753:Q339R;ENSP00000376435:Q193R	ENSP00000357753:Q339R	Q	+	2	0	IVL	151149913	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.538000	0.02204	-0.163000	0.10946	0.456000	0.33151	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.667	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0.00	49	0	A	NM_005547		152883289	+1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	41.94	36	26	SNP	0.004	G
JAKMIP3	282973	genome.wustl.edu	37	10	133950788	133950788	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:133950788G>A	ENST00000298622.4	+	7	1417	c.1279G>A	c.(1279-1281)Gtg>Atg	p.V427M		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	427						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGTGAAGAGCGTGTTAGTAAG	0.607																																																	0													83.0	85.0	84.0					10																	133950788		2056	4196	6252	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1279G>A	10.37:g.133950788G>A	ENSP00000298622:p.Val427Met		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.V427M	ENST00000298622.4	37	c.1279	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222542	0.79464	.	.	ENSG00000188385	ENST00000298622	T	0.26518	1.73	5.08	4.17	0.49024	.	0.000000	0.53938	D	0.000044	T	0.22898	0.0553	L	0.44542	1.39	0.45172	D	0.998182	B	0.26258	0.145	B	0.24269	0.052	T	0.03483	-1.1032	10	0.49607	T	0.09	-27.3191	12.2007	0.54323	0.0799:0.0:0.9201:0.0	.	427	Q5VZ66	JKIP3_HUMAN	M	427	ENSP00000298622:V427M	ENSP00000298622:V427M	V	+	1	0	JAKMIP3	133800778	1.000000	0.71417	0.988000	0.46212	0.709000	0.40893	6.628000	0.74262	1.133000	0.42147	0.651000	0.88453	GTG	JAKMIP3	-	NULL	ENSG00000188385		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0.00	31	0	G	NM_194303		133950788	+1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	84.62	6	33	SNP	0.999	A
KAT8	84148	genome.wustl.edu	37	16	31129012	31129012	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:31129012C>G	ENST00000543774.2	+	2	345	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	KAT8_ENST00000448516.2_Missense_Mutation_p.Q4E|RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000219797.4_Missense_Mutation_p.Q4E			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	4					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										GATGGCGGCACAGGGAGCTGC	0.711																																																	0													3.0	5.0	4.0					16																	31129012		1490	2781	4271	SO:0001583	missense	0			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.10C>G	16.37:g.31129012C>G	ENSP00000456933:p.Gln4Glu		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.Q4E	ENST00000543774.2	37	c.10	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397957	0.25205	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	4.81	3.78	0.43462	.	0.599952	0.16744	N	0.201334	T	0.21227	0.0511	N	0.14661	0.345	0.21967	N	0.999441	B;B	0.10296	0.001;0.003	B;B	0.09377	0.0;0.004	T	0.15378	-1.0439	9	0.02654	T	1	-14.3256	10.9695	0.47431	0.0:0.7397:0.2603:0.0	.	4;4	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	E	4	.	ENSP00000219797:Q4E	Q	+	1	0	KAT8	31036513	0.049000	0.20398	0.984000	0.44739	0.334000	0.28698	1.359000	0.34113	2.665000	0.90641	0.655000	0.94253	CAG	KAT8	-	NULL	ENSG00000103510		0.711	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3		0.00	22	0	C	NM_032188		31129012	+1			no_errors	ENST00000448516	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.977	G
KCNA3	3738	genome.wustl.edu	37	1	111215785	111215785	+	Silent	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:111215785C>G	ENST00000369769.2	-	1	1870	c.1647G>C	c.(1645-1647)acG>acC	p.T549T		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	549					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TGGAATTGCCCGTTTTGAAAG	0.448																																																	0													154.0	143.0	146.0					1																	111215785		2203	4300	6503	SO:0001819	synonymous_variant	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1647G>C	1.37:g.111215785C>G			Q5VWN2	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.T549	ENST00000369769.2	37	c.1647	CCDS828.2	1																																																																																			KCNA3	-	NULL	ENSG00000177272		0.448	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	-	0.00	40	0	C	NM_002232		111215785	-1	tier1	-	no_errors	ENST00000369769	ensembl	human	known	74_37	silent	30.36	39	17	SNP	1.000	G
KCNJ4	3761	genome.wustl.edu	37	22	38823567	38823567	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:38823567C>T	ENST00000303592.3	-	2	829	c.571G>A	c.(571-573)Gcg>Acg	p.A191T	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	191					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GAAATGACCGCGTGGTGGCTG	0.637																																																	0													45.0	44.0	44.0					22																	38823567		2203	4300	6503	SO:0001583	missense	0			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.571G>A	22.37:g.38823567C>T	ENSP00000306497:p.Ala191Thr		Q14D44	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3	p.A191T	ENST00000303592.3	37	c.571	CCDS13971.1	22	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790384	0.90367	.	.	ENSG00000168135	ENST00000303592	D	0.95171	-3.63	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	H	0.97918	4.105	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99799	1.1035	10	0.87932	D	0	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	191	P48050	IRK4_HUMAN	T	191	ENSP00000306497:A191T	ENSP00000306497:A191T	A	-	1	0	KCNJ4	37153513	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.779000	0.85648	2.472000	0.83506	0.555000	0.69702	GCG	KCNJ4	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000168135		0.637	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	-	0.00	40	0	C	NM_004981		38823567	-1	tier1	-	no_errors	ENST00000303592	ensembl	human	known	74_37	missense	48.39	16	15	SNP	1.000	T
KCNQ3	3786	genome.wustl.edu	37	8	133152397	133152397	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:133152397T>G	ENST00000388996.4	-	11	1914	c.1494A>C	c.(1492-1494)gaA>gaC	p.E498D	KCNQ3_ENST00000521134.1_Missense_Mutation_p.E378D|KCNQ3_ENST00000519445.1_Missense_Mutation_p.E498D	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	498					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGCCCCTGTCTTCCGCCATGG	0.617																																																	0													60.0	60.0	60.0					8																	133152397		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1494A>C	8.37:g.133152397T>G	ENSP00000373648:p.Glu498Asp		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E498D	ENST00000388996.4	37	c.1494	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749491	0.30955	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99563	-6.17;-6.17;-6.17	5.92	3.52	0.40303	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.052358	0.85682	D	0.000000	D	0.96941	0.9001	N	0.20574	0.59	0.41724	D	0.989525	B;B	0.24483	0.104;0.104	B;B	0.25140	0.058;0.058	D	0.94254	0.7496	10	0.02654	T	1	-21.6452	8.1881	0.31352	0.0:0.2181:0.0:0.7819	.	498;498	E7ET42;O43525	.;KCNQ3_HUMAN	D	498;378;498;487;377	ENSP00000373648:E498D;ENSP00000429799:E378D;ENSP00000428790:E498D	ENSP00000373648:E498D	E	-	3	2	KCNQ3	133221579	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.151000	0.31651	0.484000	0.27630	0.533000	0.62120	GAA	KCNQ3	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000184156		0.617	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0.00	47	0	T	NM_004519		133152397	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	48.31	46	43	SNP	1.000	G
KGFLP2	654466	genome.wustl.edu	37	9	41963837	41963837	+	lincRNA	SNP	A	A	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:41963837A>T	ENST00000454645.1	-	0	757					NR_003670.1																						AATTATCAATACCTTTGCATA	0.348																																																	0																																												0																															9.37:g.41963837A>T				Splice_Site	SNP	-	NULL	ENST00000454645.1	37	c.NULL		9																																																																																			RP11-204M4.2	-	-	ENSG00000204837		0.348	RP11-204M4.2-001	KNOWN	basic	lincRNA	KGFLP2	Clone_based_vega_gene	lincRNA	OTTHUMT00000143738.1	-	0.00	406	0	A			41963837	-1	tier1	-	no_errors	ENST00000454645	ensembl	human	known	74_37	splice_site	7.56	488	40	SNP	1.000	T
KHDRBS3	10656	genome.wustl.edu	37	8	136659488	136659489	+	3'UTR	INS	-	-	A	rs59580956|rs1128066|rs201645350|rs34118572	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:136659488_136659489insA	ENST00000355849.5	+	0	1612_1613				KHDRBS3_ENST00000520981.1_3'UTR	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3						regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AACCTGGGCAGAAAAAAAAAAA	0.252													|||unknown(HR)	3248	0.648562	0.6014	0.6715	5008	,	,		16142	0.6518		0.6074	False		,,,				2504	0.7352																0																																										SO:0001624	3_prime_UTR_variant	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.*162->A	8.37:g.136659499_136659499dupA			Q6NUL8|Q9UPA8	RNA	INS	-	NULL	ENST00000355849.5	37	NULL	CCDS6374.1	8																																																																																			KHDRBS3	-	-	ENSG00000131773		0.252	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1		0.00	18	0	-			136659489	+1	tier1		no_errors	ENST00000518728	ensembl	human	putative	74_37	rna	26.32	14	5	INS	1.000:1.000	A
KIAA0125	9834	genome.wustl.edu	37	14	106387083	106387083	+	Silent	SNP	G	G	A	rs574127375		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:106387083G>A	ENST00000449410.1	+	2	241	c.132G>A	c.(130-132)acG>acA	p.T44T	KIAA0125_ENST00000429431.1_Silent_p.T44T|IGHD1-1_ENST00000454908.1_RNA|KIAA0125_ENST00000482999.1_3'UTR			Q9NZY2	K0125_HUMAN	KIAA0125	44																	ccctgagaacgggaggtcaag	0.592																																																	0																																										SO:0001819	synonymous_variant	0			AB019441		14q32.33	2014-04-01			ENSG00000226777	ENSG00000226777			19955	other	unknown			"""family with sequence similarity 30, member A"", ""chromosome 14 open reading frame 110"""	FAM30A, C14orf110		8590280	Standard	NR_026800		Approved	HSPC053	uc001ysq.3	Q9NZY2	OTTHUMG00000152318	ENST00000449410.1:c.132G>A	14.37:g.106387083G>A			C9J8W9	Silent	SNP	NULL	p.T44	ENST00000449410.1	37	c.132		14																																																																																			KIAA0125	-	NULL	ENSG00000226777		0.592	KIAA0125-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	KIAA0125	HGNC	protein_coding	OTTHUMT00000325876.1	-	0.00	119	0	G	NM_014792		106387083	+1	tier1	-	no_errors	ENST00000429431	ensembl	human	putative	74_37	silent	8.26	111	10	SNP	0.103	A
KIF20A	10112	genome.wustl.edu	37	5	137518143	137518143	+	Silent	SNP	G	G	T	rs375606679		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:137518143G>T	ENST00000394894.3	+	5	733	c.507G>T	c.(505-507)acG>acT	p.T169T	KIF20A_ENST00000508792.1_Silent_p.T151T	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	169	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.T169T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAACCCACACGATTCAAGGTG	0.453																																																	1	Substitution - coding silent(1)	endometrium(1)											76.0	72.0	74.0					5																	137518143		2203	4300	6503	SO:0001819	synonymous_variant	0			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.507G>T	5.37:g.137518143G>T			B4DL79|D3DQB6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T169	ENST00000394894.3	37	c.507	CCDS4199.1	5																																																																																			KIF20A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000112984		0.453	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1		0.00	48	0	G	NM_005733		137518143	+1			no_errors	ENST00000394894	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.197	T
KMT2B	9757	genome.wustl.edu	37	19	36213516	36213516	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:36213516G>A	ENST00000222270.7	+	5	2618	c.2618G>A	c.(2617-2619)cGt>cAt	p.R873H	KMT2B_ENST00000420124.1_Missense_Mutation_p.R873H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	873					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CATGTCTGCCGTCATGCTGCT	0.667																																																	0													32.0	34.0	34.0					19																	36213516		2021	4176	6197	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2618G>A	19.37:g.36213516G>A	ENSP00000222270:p.Arg873His		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R873H	ENST00000222270.7	37	c.2618	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373165	0.61624	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.96554	-4.05;-4.05	5.39	5.39	0.77823	.	0.000000	0.41294	D	0.000919	D	0.97495	0.9180	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98021	1.0371	10	0.87932	D	0	.	18.0965	0.89492	0.0:0.0:1.0:0.0	.	873	Q9UMN6	MLL4_HUMAN	H	873	ENSP00000222270:R873H;ENSP00000398837:R873H	ENSP00000222270:R873H	R	+	2	0	AD000671.1	40905356	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.799000	0.91895	2.804000	0.96469	0.655000	0.94253	CGT	KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.667	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0.00	12	0	G	NM_014727		36213516	+1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	A
KRT83	3889	genome.wustl.edu	37	12	52710769	52710769	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:52710769G>A	ENST00000293670.3	-	5	851	c.789C>T	c.(787-789)tcC>tcT	p.S263S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	263	Linker 12.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGACAACCACGGAGGTGTCTG	0.552																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)												0													149.0	130.0	137.0					12																	52710769		2203	4300	6503	SO:0001819	synonymous_variant	0			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.789C>T	12.37:g.52710769G>A			A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S263	ENST00000293670.3	37	c.789	CCDS8823.1	12																																																																																			KRT83	-	pfam_IF,superfamily_Prefoldin	ENSG00000170523		0.552	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	HGNC	protein_coding	OTTHUMT00000405182.1	-	0.00	66	0	G	NM_002282		52710769	-1	tier1	-	no_errors	ENST00000293670	ensembl	human	known	74_37	silent	29.58	50	21	SNP	0.001	A
LAMB2	3913	genome.wustl.edu	37	3	49161216	49161216	+	Missense_Mutation	SNP	G	G	A	rs372230106		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:49161216G>A	ENST00000418109.1	-	25	3906	c.3742C>T	c.(3742-3744)Cgc>Tgc	p.R1248C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1248C|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1248	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTGTTGCGGGCACCTACG	0.627																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	34.0	36.0	35.0		3742	5.8	1.0	3		35	0,8594		0,0,4297	no	missense	LAMB2	NM_002292.3	180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1248/1799	49161216	1,12999	2203	4297	6500	SO:0001583	missense	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3742C>T	3.37:g.49161216G>A	ENSP00000388325:p.Arg1248Cys		Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R1248C	ENST00000418109.1	37	c.3742	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467721	0.84533	2.27E-4	0.0	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.35048	1.33;1.33	5.84	5.84	0.93424	.	0.106915	0.64402	D	0.000003	T	0.60766	0.2294	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58183	-0.7681	10	0.54805	T	0.06	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	1248	P55268	LAMB2_HUMAN	C	1248;1248;15	ENSP00000388325:R1248C;ENSP00000307156:R1248C	ENSP00000307156:R1248C	R	-	1	0	LAMB2	49136220	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.501000	0.66950	2.768000	0.95171	0.561000	0.74099	CGC	LAMB2	-	NULL	ENSG00000172037		0.627	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	-	0.00	39	0	G	NM_002292		49161216	-1	tier1	-	no_errors	ENST00000305544	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	A
LENG9	94059	genome.wustl.edu	37	19	54973452	54973452	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:54973452C>T	ENST00000333834.4	-	1	1442	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	442							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		TGCAGCTGCCCTGGAGACTGT	0.637																																																	0													74.0	75.0	75.0					19																	54973452		2203	4300	6503	SO:0001583	missense	0			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1324G>A	19.37:g.54973452C>T	ENSP00000331647:p.Gly442Arg		B2VAM3	Missense_Mutation	SNP	superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH	p.G442R	ENST00000333834.4	37	c.1324	CCDS12895.2	19	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269774	0.40095	.	.	ENSG00000182909	ENST00000333834	T	0.35236	1.32	4.09	1.89	0.25635	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.440036	0.22159	U	0.063802	T	0.21509	0.0518	L	0.38175	1.15	0.09310	N	1	B	0.25904	0.137	B	0.27887	0.084	T	0.26950	-1.0088	10	0.06625	T	0.88	.	6.8249	0.23876	0.0:0.7783:0.0:0.2217	.	442	Q96B70	LENG9_HUMAN	R	442	ENSP00000331647:G442R	ENSP00000331647:G442R	G	-	1	0	LENG9	59665264	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.798000	0.27014	0.480000	0.27534	0.462000	0.41574	GGG	LENG9	-	superfamily_RNA_ligase/cNuc_Pdiesterase	ENSG00000182909		0.637	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	HGNC	protein_coding	OTTHUMT00000140806.3	-	0.00	45	0	C	NM_198988		54973452	-1	tier1	-	no_errors	ENST00000333834	ensembl	human	known	74_37	missense	22.00	39	11	SNP	0.000	T
LIN54	132660	genome.wustl.edu	37	4	83905687	83905687	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr4:83905687G>T	ENST00000340417.3	-	2	688	c.311C>A	c.(310-312)gCt>gAt	p.A104D	LIN54_ENST00000505397.1_Missense_Mutation_p.A104D|LIN54_ENST00000395282.2_Missense_Mutation_p.A104D|LIN54_ENST00000506560.1_Missense_Mutation_p.A104D|LIN54_ENST00000395283.2_Missense_Mutation_p.A104D|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	104					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AGGAGTCTGAGCACCAAGTTT	0.388																																																	0													229.0	229.0	229.0					4																	83905687		2203	4300	6503	SO:0001583	missense	0			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.311C>A	4.37:g.83905687G>T	ENSP00000341947:p.Ala104Asp		Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	pfam_CRC	p.A104D	ENST00000340417.3	37	c.311	CCDS3599.1	4	.	.	.	.	.	.	.	.	.	.	G	13.14	2.146774	0.37923	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.36	4.52	0.55395	.	0.200035	0.43260	D	0.000590	T	0.45478	0.1344	N	0.19112	0.55	0.47621	D	0.999475	B;B	0.26195	0.144;0.037	B;B	0.28849	0.095;0.044	T	0.45833	-0.9234	9	0.72032	D	0.01	-16.3737	14.0467	0.64708	0.073:0.0:0.927:0.0	.	104;104	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	D	104	.	ENSP00000341947:A104D	A	-	2	0	LIN54	84124711	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.710000	0.74670	1.260000	0.44134	-0.140000	0.14226	GCT	LIN54	-	NULL	ENSG00000189308		0.388	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN54	HGNC	protein_coding	OTTHUMT00000252626.2		0.00	48	0	G	NM_194282		83905687	-1			no_errors	ENST00000340417	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
LINC00207	388910	genome.wustl.edu	37	22	44966415	44966415	+	lincRNA	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:44966415C>A	ENST00000605505.1	+	0	193					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						GGTTACACATCCTGCTTGGGA	0.498																																																	0													68.0	64.0	65.0					22																	44966415		2030	4191	6221			0			BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44966415C>A				RNA	SNP	-	NULL	ENST00000605505.1	37	NULL		22																																																																																			LINC00207	-	-	ENSG00000187012		0.498	LINC00207-003	KNOWN	basic	lincRNA	LINC00207	HGNC	lincRNA	OTTHUMT00000468439.1	-	0.00	19	0	C	NR_028409		44966415	+1	tier1	-	no_errors	ENST00000334566	ensembl	human	known	74_37	rna	55.17	13	16	SNP	0.002	A
LINC01020	340094	genome.wustl.edu	37	5	5034586	5034586	+	lincRNA	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:5034586T>C	ENST00000508201.1	+	0	115				CTD-2247C11.1_ENST00000509057.1_lincRNA					long intergenic non-protein coding RNA 1020																		tgGAGCAGCCTTGAGCCACAA	0.483																																																	0																																												0					5p15.32	2013-07-26			ENSG00000215231	ENSG00000215231		"""Long non-coding RNAs"""	27968	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_026994		Approved				OTTHUMG00000161653		5.37:g.5034586T>C				RNA	SNP	-	NULL	ENST00000508201.1	37	NULL		5																																																																																			LINC01020	-	-	ENSG00000215231		0.483	LINC01020-001	KNOWN	basic	lincRNA	LINC01020	HGNC	lincRNA	OTTHUMT00000365595.1	-	0.00	36	0	T			5034586	+1	tier1	-	no_errors	ENST00000508201	ensembl	human	known	74_37	rna	59.79	39	58	SNP	0.001	C
LPAL2	80350	genome.wustl.edu	37	6	160888673	160888673	+	RNA	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:160888673C>T	ENST00000335388.5	-	0	1583					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AGTACTCCCACCTGACGCTGG	0.532																																																	0																																												0			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160888673C>T			E1P5B4	RNA	SNP	-	NULL	ENST00000335388.5	37	NULL		6																																																																																			LPAL2	-	-	ENSG00000213071		0.532	LPAL2-003	KNOWN	basic	processed_transcript	LPAL2	HGNC	pseudogene	OTTHUMT00000042950.1	-	0.00	64	0	C	NM_024492		160888673	-1	tier1	-	no_errors	ENST00000335388	ensembl	human	known	74_37	rna	28.57	40	16	SNP	0.288	T
LPA	4018	genome.wustl.edu	37	6	161015105	161015105	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:161015105C>T	ENST00000316300.5	-	22	3558	c.3514G>A	c.(3514-3516)Gat>Aat	p.D1172N	LPA_ENST00000447678.1_Missense_Mutation_p.D1172N			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3680	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTCTGTCCATCACCATGGTAG	0.483																																																	0													136.0	137.0	137.0					6																	161015105		2065	4255	6320	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3514G>A	6.37:g.161015105C>T	ENSP00000321334:p.Asp1172Asn		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.D1172N	ENST00000316300.5	37	c.3514	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	0	-2.627253	0.00117	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.60171	0.21;0.21	2.56	-0.923	0.10465	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.16257	0.0391	N	0.03115	-0.41	0.09310	N	1	B	0.19200	0.034	B	0.41894	0.369	T	0.52305	-0.8593	9	0.15952	T	0.53	.	5.2389	0.15462	0.0:0.4122:0.0:0.5878	.	3680	P08519	APOA_HUMAN	N	1172	ENSP00000321334:D1172N;ENSP00000395608:D1172N	ENSP00000321334:D1172N	D	-	1	0	LPA	160935095	0.674000	0.27549	0.000000	0.03702	0.036000	0.12997	1.234000	0.32660	-0.353000	0.08224	0.436000	0.28706	GAT	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0.00	129	0	C	NM_005577		161015105	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	30.71	97	43	SNP	0.001	T
LRIT1	26103	genome.wustl.edu	37	10	85993970	85993970	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:85993970G>T	ENST00000372105.3	-	3	775	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	252	LRRCT.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TCTGGGCCCTGGCACTTCCTC	0.612																																																	0													78.0	75.0	76.0					10																	85993970		2203	4300	6503	SO:0001583	missense	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.754C>A	10.37:g.85993970G>T	ENSP00000361177:p.Gln252Lys		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q252K	ENST00000372105.3	37	c.754	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130834	0.56828	.	.	ENSG00000148602	ENST00000372105	T	0.35421	1.31	5.91	4.99	0.66335	Cysteine-rich flanking region, C-terminal (1);	0.163740	0.56097	N	0.000033	T	0.33469	0.0864	M	0.72118	2.19	0.58432	D	0.999999	B	0.33135	0.399	B	0.23018	0.043	T	0.18053	-1.0349	10	0.10111	T	0.7	.	15.3245	0.74150	0.0:0.0:0.8588:0.1412	.	252	Q9P2V4	LRIT1_HUMAN	K	252	ENSP00000361177:Q252K	ENSP00000361177:Q252K	Q	-	1	0	LRIT1	85983950	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.408000	0.73285	1.474000	0.48178	0.655000	0.94253	CAG	LRIT1	-	smart_Cys-rich_flank_reg_C	ENSG00000148602		0.612	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	-	0.00	30	0	G	NM_015613		85993970	-1	tier1	-	no_errors	ENST00000372105	ensembl	human	known	74_37	missense	38.89	22	14	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141130629	141130629	+	Silent	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:141130629A>G	ENST00000389484.3	-	69	11687	c.10716T>C	c.(10714-10716)tgT>tgC	p.C3572C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3572	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGGCCATCACATTTCCATT	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													199.0	191.0	194.0					2																	141130629		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10716T>C	2.37:g.141130629A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C3572	ENST00000389484.3	37	c.10716	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	40	0	A	NM_018557		141130629	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	20.41	39	10	SNP	1.000	G
LRRK2	120892	genome.wustl.edu	37	12	40689258	40689258	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:40689258C>A	ENST00000298910.7	+	23	2966	c.2908C>A	c.(2908-2910)Cat>Aat	p.H970N	LRRK2_ENST00000343742.2_Missense_Mutation_p.H970N	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	970					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCATATGAGGCATTCAGACAG	0.333																																																	0													63.0	66.0	65.0					12																	40689258		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2908C>A	12.37:g.40689258C>A	ENSP00000298910:p.His970Asn		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.H970N	ENST00000298910.7	37	c.2908	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	6.939	0.543050	0.13250	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.23754	2.27;1.89	5.71	2.58	0.30949	.	1.038730	0.07474	N	0.902770	T	0.16471	0.0396	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.29212	-1.0019	10	0.24483	T	0.36	.	10.7709	0.46321	0.2865:0.5956:0.1179:0.0	.	970;970	E9PC85;Q5S007	.;LRRK2_HUMAN	N	970	ENSP00000341930:H970N;ENSP00000298910:H970N	ENSP00000298910:H970N	H	+	1	0	LRRK2	38975525	0.015000	0.18098	0.838000	0.33150	0.980000	0.70556	0.030000	0.13688	0.685000	0.31468	0.591000	0.81541	CAT	LRRK2	-	NULL	ENSG00000188906		0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0.00	24	0	C	XM_058513		40689258	+1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.137	A
LRRTM1	347730	genome.wustl.edu	37	2	80530483	80530483	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:80530483G>A	ENST00000295057.3	-	2	1118	c.462C>T	c.(460-462)ccC>ccT	p.P154P	CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.P154P|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	154					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGAAGAGGTCGGGCGCGAGCG	0.642										HNSCC(69;0.2)																																							0													86.0	94.0	91.0					2																	80530483		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.462C>T	2.37:g.80530483G>A			A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P154	ENST00000295057.3	37	c.462	CCDS1966.1	2																																																																																			LRRTM1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000162951		0.642	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	-	0.00	35	0	G	NM_178839		80530483	-1	tier1	-	no_errors	ENST00000295057	ensembl	human	known	74_37	silent	19.35	25	6	SNP	0.973	A
MAML2	84441	genome.wustl.edu	37	11	95826428	95826428	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:95826428C>T	ENST00000524717.1	-	2	2051	c.767G>A	c.(766-768)gGc>gAc	p.G256D		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	256					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTTAAACAGGCCATTGCCAGG	0.468			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													107.0	101.0	103.0					11																	95826428		1919	4135	6054	SO:0001583	missense	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.767G>A	11.37:g.95826428C>T	ENSP00000434552:p.Gly256Asp		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.G256D	ENST00000524717.1	37	c.767	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292358	0.10567	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.39997	1.05;1.05	5.42	3.51	0.40186	.	0.544123	0.18521	N	0.138775	T	0.15782	0.0380	N	0.04297	-0.235	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30880	-0.9963	10	0.05833	T	0.94	-0.3148	6.095	0.20015	0.0:0.6378:0.1372:0.225	.	256	Q8IZL2	MAML2_HUMAN	D	256	ENSP00000434552:G256D;ENSP00000412394:G256D	ENSP00000412394:G256D	G	-	2	0	MAML2	95466076	0.131000	0.22433	0.001000	0.08648	0.969000	0.65631	1.378000	0.34328	0.617000	0.30160	0.455000	0.32223	GGC	MAML2	-	NULL	ENSG00000184384		0.468	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0.00	21	0	C			95826428	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.040	T
MAN1A1	4121	genome.wustl.edu	37	6	119501086	119501086	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:119501086G>A	ENST00000368468.3	-	13	2301	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	620					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GAAGATCGTCGTCAGAAAATA	0.418																																					Ovarian(136;8 1825 12608 33541 47587)												0													88.0	90.0	89.0					6																	119501086		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1860C>T	6.37:g.119501086G>A			E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.D620	ENST00000368468.3	37	c.1860	CCDS5122.1	6																																																																																			MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000111885		0.418	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1		0.00	22	0	G	NM_005907		119501086	-1			no_errors	ENST00000368468	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.896	A
MED12L	116931	genome.wustl.edu	37	3	151085514	151085514	+	Missense_Mutation	SNP	C	C	A	rs141664377	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:151085514C>A	ENST00000474524.1	+	22	3341	c.3303C>A	c.(3301-3303)gaC>gaA	p.D1101E	MED12L_ENST00000273432.4_Missense_Mutation_p.D961E|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1101						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCTGGAGGACGTCGTGCAGC	0.448																																																	0													211.0	183.0	193.0					3																	151085514		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3303C>A	3.37:g.151085514C>A	ENSP00000417235:p.Asp1101Glu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.D1101E	ENST00000474524.1	37	c.3303	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197921	0.79015	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.19669	2.13;2.13	5.61	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	L	0.49350	1.555	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.993	D;D;D	0.80764	0.994;0.984;0.982	T	0.06427	-1.0827	10	0.87932	D	0	-31.5678	5.2724	0.15632	0.0:0.5285:0.0:0.4715	.	961;1100;1101	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	E	1101;961	ENSP00000417235:D1101E;ENSP00000273432:D961E	ENSP00000273432:D961E	D	+	3	2	MED12L	152568204	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.643000	0.24750	0.814000	0.34374	0.655000	0.94253	GAC	MED12L	-	NULL	ENSG00000144893		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0.00	53	0	C	NM_053002		151085514	+1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	16.36	92	18	SNP	1.000	A
MEF2C	4208	genome.wustl.edu	37	5	88178941	88178941	+	5'UTR	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:88178941C>T	ENST00000437473.2	-	0	109				MEF2C_ENST00000514015.1_5'UTR|MEF2C_ENST00000506554.1_5'UTR|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000514028.1_5'UTR|MEF2C-AS1_ENST00000511100.1_RNA|MEF2C_ENST00000504921.2_5'UTR|MEF2C_ENST00000508569.1_5'UTR|MEF2C-AS1_ENST00000512585.1_RNA|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000510942.1_5'UTR|MEF2C-AS1_ENST00000514794.1_RNA	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CCTTCAAAGTCAATCCAATAG	0.498										HNSCC(66;0.2)																																							0																																										SO:0001623	5_prime_UTR_variant	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.-309G>A	5.37:g.88178941C>T			C9JMZ0|D7F7N5|F8W7V7	RNA	SNP	-	NULL	ENST00000437473.2	37	NULL	CCDS47245.1	5																																																																																			MEF2C	-	-	ENSG00000081189		0.498	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	-	0.00	15	0	C	NM_002397		88178941	-1	tier1	-	no_errors	ENST00000509349	ensembl	human	known	74_37	rna	41.67	7	5	SNP	1.000	T
MKNK2	2872	genome.wustl.edu	37	19	2041133	2041133	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:2041133C>G	ENST00000591601.1	-	11	1051	c.1016G>C	c.(1015-1017)tGc>tCc	p.C339S	MKNK2_ENST00000309340.7_Missense_Mutation_p.C339S|MKNK2_ENST00000591588.1_Missense_Mutation_p.C83S|MKNK2_ENST00000591142.1_Missense_Mutation_p.C83S|MKNK2_ENST00000541165.1_Missense_Mutation_p.C208S|MKNK2_ENST00000250896.3_Missense_Mutation_p.C339S|MKNK2_ENST00000588014.1_Missense_Mutation_p.C83S			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGGCAGCGCAGGAGATGTG	0.597																																																	0													192.0	146.0	161.0					19																	2041133		2203	4300	6503	SO:0001583	missense	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1016G>C	19.37:g.2041133C>G	ENSP00000467811:p.Cys339Ser		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C339S	ENST00000591601.1	37	c.1016	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.037428	0.00406	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.62498	0.02;0.02;0.02	3.94	2.91	0.33838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.530450	0.20591	N	0.089352	T	0.25754	0.0627	N	0.01289	-0.905	0.25808	N	0.984437	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.18650	-1.0330	10	0.13108	T	0.6	-8.2908	4.9164	0.13847	0.6977:0.2028:0.0995:0.0	.	144;339;339;241	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	S	339;339;208;279	ENSP00000309485:C339S;ENSP00000250896:C339S;ENSP00000438904:C208S	ENSP00000250896:C339S	C	-	2	0	MKNK2	1992133	0.253000	0.23982	0.508000	0.27688	0.029000	0.11900	1.929000	0.40114	0.594000	0.29761	-0.410000	0.06199	TGC	MKNK2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000099875		0.597	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	-	0.00	44	0	C	NM_199054		2041133	-1	tier1	-	no_errors	ENST00000250896	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.884	G
MMACHC	25974	genome.wustl.edu	37	1	45974675	45974675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:45974675G>T	ENST00000401061.4	+	4	917	c.637G>T	c.(637-639)Gag>Tag	p.E213*		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	213					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACACCCCAGGAGCGCTACTC	0.552																																																	0													104.0	111.0	109.0					1																	45974675		2024	4188	6212	SO:0001587	stop_gained	0				CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.637G>T	1.37:g.45974675G>T	ENSP00000383840:p.Glu213*		Q5T157|Q9BRQ7	Nonsense_Mutation	SNP	NULL	p.E213*	ENST00000401061.4	37	c.637	CCDS41324.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.517804	0.98332	.	.	ENSG00000132763	ENST00000401061	.	.	.	5.8	5.8	0.92144	.	0.156269	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.1466	19.6644	0.95887	0.0:0.0:1.0:0.0	.	.	.	.	X	213	.	ENSP00000383840:E213X	E	+	1	0	MMACHC	45747262	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	7.040000	0.76551	2.758000	0.94735	0.563000	0.77884	GAG	MMACHC	-	NULL	ENSG00000132763		0.552	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMACHC	HGNC	protein_coding	OTTHUMT00000020864.2		0.00	28	0	G	NM_015506		45974675	+1			no_errors	ENST00000401061	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.980	T
MPPED2	744	genome.wustl.edu	37	11	30432554	30432554	+	3'UTR	SNP	A	A	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:30432554A>C	ENST00000358117.5	-	0	1468				MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2						nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CACATCTGCAAAAAAGAAGCA	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.*461T>G	11.37:g.30432554A>C			D3DQZ5|E9PB10|Q59GE6	RNA	SNP	-	NULL	ENST00000358117.5	37	NULL	CCDS7870.1	11																																																																																			MPPED2	-	-	ENSG00000066382		0.318	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	-	0.00	18	0	A	NM_001584		30432554	-1	tier1	-	no_errors	ENST00000524667	ensembl	human	known	74_37	rna	80.00	1	4	SNP	0.987	C
MUC16	94025	genome.wustl.edu	37	19	9048223	9048223	+	Silent	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:9048223T>C	ENST00000397910.4	-	5	33611	c.33408A>G	c.(33406-33408)gaA>gaG	p.E11136E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11138	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGCTGGCTTCTACCCCAT	0.478																																																	0													93.0	84.0	87.0					19																	9048223		1909	4133	6042	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33408A>G	19.37:g.9048223T>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E11136	ENST00000397910.4	37	c.33408	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	94	0	T	NM_024690		9048223	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	41.57	52	37	SNP	0.000	C
MUC4	4585	genome.wustl.edu	37	3	195515381	195515381	+	Missense_Mutation	SNP	G	G	A	rs369312980	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:195515381G>A	ENST00000463781.3	-	2	3529	c.3070C>T	c.(3070-3072)Cct>Tct	p.P1024S	MUC4_ENST00000475231.1_Missense_Mutation_p.P1024S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	459	Repeat.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S1013_T1028delSPSSVSTGHTTPLPVT(4)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGGGGTGGTGTGA	0.572													.|||	7	0.00139776	0.0	0.0	5008	,	,		18022	0.0		0.0	False		,,,				2504	0.0072																4	Deletion - In frame(4)	stomach(4)											47.0	25.0	32.0					3																	195515381		692	1591	2283	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3070C>T	3.37:g.195515381G>A	ENSP00000417498:p.Pro1024Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P1024S	ENST00000463781.3	37	c.3070	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	5.853	0.341538	0.11069	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.54675	0.56;0.59	.	.	.	.	.	.	.	.	T	0.31734	0.0806	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.18555	-1.0333	6	.	.	.	.	.	.	.	.	1024	E7ESK3	.	S	1024	ENSP00000417498:P1024S;ENSP00000420243:P1024S	.	P	-	1	0	MUC4	196999776	0.000000	0.05858	0.003000	0.11579	0.087000	0.18053	-2.931000	0.00688	0.451000	0.26802	0.064000	0.15345	CCT	MUC4	-	NULL	ENSG00000145113		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	-	0.00	214	0	G	NM_018406		195515381	-1	tier1	-	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	35.56	145	80	SNP	0.003	A
MYCBP2	23077	genome.wustl.edu	37	13	77724939	77724939	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:77724939G>A	ENST00000544440.2	-	47	6964	c.6947C>T	c.(6946-6948)cCa>cTa	p.P2316L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P2316L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.P2354L|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCTAGCTTTGGTGATGCCAG	0.373																																																	0													200.0	183.0	189.0					13																	77724939		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6947C>T	13.37:g.77724939G>A	ENSP00000444596:p.Pro2316Leu			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.P2354L	ENST00000544440.2	37	c.7061		13	.	.	.	.	.	.	.	.	.	.	G	32	5.127254	0.94473	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34472	1.37;1.36;1.37	5.45	5.45	0.79879	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.63585	-0.6604	10	0.87932	D	0	.	19.2961	0.94122	0.0:0.0:1.0:0.0	.	2316	O75592	MYCB2_HUMAN	L	2316;2354;2316	ENSP00000349892:P2316L;ENSP00000384288:P2354L;ENSP00000444596:P2316L	ENSP00000349892:P2316L	P	-	2	0	MYCBP2	76622940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.397000	0.97276	2.546000	0.85860	0.650000	0.86243	CCA	MYCBP2	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,pfscan_Filamin/ABP280_repeat-like	ENSG00000005810		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0.00	42	0	G	NM_015057		77724939	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	27.08	34	13	SNP	1.000	A
MYCBP2	23077	genome.wustl.edu	37	13	77792007	77792007	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:77792007C>A	ENST00000544440.2	-	21	2928	c.2911G>T	c.(2911-2913)Gat>Tat	p.D971Y	MYCBP2_ENST00000357337.6_Missense_Mutation_p.D971Y|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D1009Y|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTGTCCATCCATTAAAAGT	0.373																																																	0													117.0	117.0	117.0					13																	77792007		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2911G>T	13.37:g.77792007C>A	ENSP00000444596:p.Asp971Tyr			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D1009Y	ENST00000544440.2	37	c.3025		13	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528496	0.85706	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.83335	-1.71;-1.71;-1.71	5.65	5.65	0.86999	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.89125	0.6626	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.89460	0.3736	10	0.72032	D	0.01	.	19.7242	0.96154	0.0:1.0:0.0:0.0	.	971	O75592	MYCB2_HUMAN	Y	971;1009;971	ENSP00000349892:D971Y;ENSP00000384288:D1009Y;ENSP00000444596:D971Y	ENSP00000349892:D971Y	D	-	1	0	MYCBP2	76690008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.658000	0.90341	0.460000	0.39030	GAT	MYCBP2	-	superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000005810		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1		0.00	30	0	C	NM_015057		77792007	-1			no_errors	ENST00000407578	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A
MYH14	79784	genome.wustl.edu	37	19	50762495	50762495	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:50762495G>A	ENST00000596571.1	+	16	2204	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	MYH14_ENST00000376970.2_Missense_Mutation_p.R768H|MYH14_ENST00000440075.2_Missense_Mutation_p.R776H|MYH14_ENST00000262269.8_Missense_Mutation_p.R776H|MYH14_ENST00000601313.1_Missense_Mutation_p.R776H|MYH14_ENST00000425460.1_Missense_Mutation_p.R743H|MYH14_ENST00000598205.1_Missense_Mutation_p.R743H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	735	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCCCCAACCGCATCCTCTTC	0.706																																																	0													14.0	17.0	16.0					19																	50762495		2181	4286	6467	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2204G>A	19.37:g.50762495G>A	ENSP00000472819:p.Arg735His		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R776H	ENST00000596571.1	37	c.2327	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747909	0.89663	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	3.39	3.39	0.38822	Myosin head, motor domain (2);	.	.	.	.	D	0.96914	0.8992	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97532	1.0080	9	0.87932	D	0	.	12.6659	0.56842	0.0:0.0:1.0:0.0	.	776;735;743	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	735;776;768;743;735;776	ENSP00000406273:R776H;ENSP00000366169:R768H;ENSP00000407879:R743H;ENSP00000262269:R776H	ENSP00000262269:R776H	R	+	2	0	MYH14	55454307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.497000	0.97970	1.917000	0.55516	0.484000	0.47621	CGC	MYH14	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000105357		0.706	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2		0.00	51	0	G	NM_024729		50762495	+1			no_errors	ENST00000262269	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A
MYO18B	84700	genome.wustl.edu	37	22	26166123	26166123	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:26166123A>G	ENST00000407587.2	+	5	1728	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	MYO18B_ENST00000335473.7_Missense_Mutation_p.Q520R|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q520R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	520						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGCTGGCTCAGAAGGATGGA	0.512																																																	0													178.0	177.0	177.0					22																	26166123		1981	4173	6154	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1559A>G	22.37:g.26166123A>G	ENSP00000386096:p.Gln520Arg		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q520R	ENST00000407587.2	37	c.1559		22	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136326	0.37728	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87412	-2.23;-2.23;-2.25	4.52	3.46	0.39613	.	0.146153	0.47093	D	0.000255	D	0.84165	0.5412	M	0.66939	2.045	0.32756	N	0.505799	B;B;B;B	0.20671	0.005;0.017;0.047;0.029	B;B;B;B	0.19946	0.004;0.01;0.027;0.022	T	0.82261	-0.0545	10	0.49607	T	0.09	.	9.3651	0.38219	0.9127:0.0:0.0873:0.0	.	33;520;520;520	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	R	520	ENSP00000441229:Q520R;ENSP00000334563:Q520R;ENSP00000386096:Q520R	ENSP00000334563:Q520R	Q	+	2	0	MYO18B	24496123	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	4.825000	0.62708	0.562000	0.29204	0.260000	0.18958	CAG	MYO18B	-	NULL	ENSG00000133454		0.512	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0.00	77	0	A	NM_032608		26166123	+1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	38.54	59	37	SNP	1.000	G
MYT1L	23040	genome.wustl.edu	37	2	1890313	1890313	+	Silent	SNP	G	G	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:1890313G>C	ENST00000399161.2	-	18	3456	c.2709C>G	c.(2707-2709)ctC>ctG	p.L903L	MYT1L_ENST00000428368.2_Silent_p.L901L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	903					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AATCTTACTTGAGTTCTTGGG	0.418																																																	0													51.0	52.0	52.0					2																	1890313		1847	4097	5944	SO:0001819	synonymous_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2709C>G	2.37:g.1890313G>C			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.L903	ENST00000399161.2	37	c.2709		2																																																																																			MYT1L	-	pfam_Znf_C2HC	ENSG00000186487		0.418	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0.00	55	0	G	NM_015025		1890313	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	silent	8.33	66	6	SNP	1.000	C
NAALADL2	254827	genome.wustl.edu	37	3	174577232	174577232	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:174577232C>A	ENST00000454872.1	+	1	163	c.35C>A	c.(34-36)tCt>tAt	p.S12Y		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	12						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCTAACACGTCTTTGCAAGGT	0.378																																																	0													115.0	110.0	112.0					3																	174577232		1886	4094	5980	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.35C>A	3.37:g.174577232C>A	ENSP00000404705:p.Ser12Tyr		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.S12Y	ENST00000454872.1	37	c.35	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301102	0.40694	.	.	ENSG00000177694	ENST00000454872	T	0.34667	1.35	5.85	5.85	0.93711	.	.	.	.	.	T	0.36853	0.0982	N	0.08118	0	0.29773	N	0.83466	D	0.57257	0.979	P	0.53722	0.733	T	0.41592	-0.9500	9	0.87932	D	0	.	20.137	0.98033	0.0:1.0:0.0:0.0	.	12	Q58DX5	NADL2_HUMAN	Y	12	ENSP00000404705:S12Y	ENSP00000404705:S12Y	S	+	2	0	NAALADL2	176059926	0.990000	0.36364	0.964000	0.40570	0.553000	0.35397	5.153000	0.64888	2.932000	0.99384	0.643000	0.83706	TCT	NAALADL2	-	NULL	ENSG00000177694		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	-	0.00	34	0	C	NM_207015		174577232	+1	tier1	-	no_errors	ENST00000454872	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.972	A
NELL1	4745	genome.wustl.edu	37	11	20699482	20699482	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:20699482G>A	ENST00000357134.5	+	2	212	c.60G>A	c.(58-60)gtG>gtA	p.V20V	NELL1_ENST00000325319.5_Silent_p.V20V|NELL1_ENST00000298925.5_Silent_p.V48V|NELL1_ENST00000532434.1_Silent_p.V20V	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	20					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTCCAGTGGTGGGCTTTGGGA	0.498																																																	0													158.0	147.0	151.0					11																	20699482		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.60G>A	11.37:g.20699482G>A			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.V20	ENST00000357134.5	37	c.60	CCDS7855.1	11																																																																																			NELL1	-	NULL	ENSG00000165973		0.498	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0.00	49	0	G	NM_006157		20699482	+1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	silent	61.90	16	26	SNP	0.514	A
NFIL3	4783	genome.wustl.edu	37	9	94172659	94172659	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:94172659G>A	ENST00000297689.3	-	2	752	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	120	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTAGTGAAAGCAGCTCAGCT	0.388																																					Esophageal Squamous(152;732 1832 10053 26981 51762)												0													110.0	117.0	115.0					9																	94172659		2203	4300	6503	SO:0001583	missense	0			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.358C>T	9.37:g.94172659G>A	ENSP00000297689:p.Leu120Phe		B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	p.L120F	ENST00000297689.3	37	c.358	CCDS6690.1	9	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694556	0.48202	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	T	0.43688	0.94	5.19	4.29	0.51040	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.64402	D	0.000018	T	0.50497	0.1619	M	0.82323	2.585	0.58432	D	0.999999	B	0.25206	0.12	B	0.31245	0.126	T	0.55945	-0.8060	10	0.59425	D	0.04	-11.5689	13.8154	0.63287	0.0733:0.0:0.9267:0.0	.	120	Q16649	NFIL3_HUMAN	F	120	ENSP00000297689:L120F	ENSP00000297689:L120F	L	-	1	0	NFIL3	93212480	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	7.277000	0.78572	1.424000	0.47217	0.561000	0.74099	CTT	NFIL3	-	pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	ENSG00000165030		0.388	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIL3	HGNC	protein_coding	OTTHUMT00000053038.2		0.00	29	0	G	NM_005384		94172659	-1			no_errors	ENST00000297689	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A
NPIPB11	728888	genome.wustl.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A	rs62035609		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	27						integral component of membrane (GO:0016021)		p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577																																																	24	Substitution - coding silent(24)	endometrium(22)|kidney(2)																																								SO:0001819	synonymous_variant	0					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.81C>T	16.37:g.29415043G>A				Silent	SNP	NULL	p.H27	ENST00000524087.1	37	c.81		16																																																																																			NPIPB11	-	NULL	ENSG00000254206		0.577	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NPIPB11	HGNC	protein_coding	OTTHUMT00000374094.1		0.00	129	0	G	XM_002343430		29415043	-1			no_errors	ENST00000524087	ensembl	human	putative	74_37	silent	5.97	126	8	SNP	0.821	A
NR5A2	2494	genome.wustl.edu	37	1	200089966	200089966	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:200089966G>A	ENST00000367362.3	+	7	1507	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	NR5A2_ENST00000544748.1_Missense_Mutation_p.G349R|NR5A2_ENST00000236914.3_Missense_Mutation_p.G375R	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	421	Lipid binding.				bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ATCACAAGCCGGAGCCACCCT	0.418																																					Melanoma(179;1138 2773 15678 26136)												0													163.0	135.0	144.0					1																	200089966		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1261G>A	1.37:g.200089966G>A	ENSP00000356331:p.Gly421Arg		B4E2P3|O95642|Q147U3	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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.G421R	ENST00000367362.3	37	c.1261	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959223	0.92726	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.96554	-4.05;-4.05;-4.05	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.045811	0.85682	D	0.000000	D	0.96694	0.8921	M	0.83223	2.63	0.80722	D	1	P;P	0.43542	0.701;0.81	B;B	0.42851	0.16;0.4	D	0.96219	0.9159	9	.	.	.	.	20.3236	0.98685	0.0:0.0:1.0:0.0	.	375;421	F1D8R9;O00482	.;NR5A2_HUMAN	R	421;375;349	ENSP00000356331:G421R;ENSP00000236914:G375R;ENSP00000439116:G349R	.	G	+	1	0	NR5A2	198356589	1.000000	0.71417	0.438000	0.26821	0.315000	0.28087	7.967000	0.87967	2.876000	0.98609	0.644000	0.83932	GGA	NR5A2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.418	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	-	0.00	71	0	G			200089966	+1	tier1	-	no_errors	ENST00000367362	ensembl	human	known	74_37	missense	33.85	43	22	SNP	0.998	A
NRXN2	9379	genome.wustl.edu	37	11	64457918	64457919	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:64457918_64457919insC	ENST00000377551.1	-	4	1019_1020	c.808_809insG	c.(808-810)gccfs	p.A270fs	NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.A270fs|NRXN2_ENST00000265459.6_Frame_Shift_Ins_p.A270fs|NRXN2_ENST00000377559.3_Intron			Q9P2S2	NRX2A_HUMAN	neurexin 2	270					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A270fs*27(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCTCTCCCGGCCCCCCCCTCG	0.634																																																	1	Insertion - Frameshift(1)	central_nervous_system(1)							,	56,4208		0,56,2076					,	4.6	1.0			37	73,8181		0,73,4054	no	intron,frameshift	NRXN2	NM_138732.2,NM_015080.3	,	0,129,6130	A1A1,A1R,RR		0.8844,1.3133,1.0305	,	,		129,12389				SO:0001589	frameshift_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.809dupG	11.37:g.64457926_64457926dupC	ENSP00000366774:p.Ala270fs		A7E2C1|Q9Y2D6	Frame_Shift_Ins	INS	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A270fs	ENST00000377551.1	37	c.809_808	CCDS8077.1	11																																																																																			NRXN2	-	NULL	ENSG00000110076		0.634	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3		0.00	76	0	-	NM_015080		64457919	-1	tier1		no_errors	ENST00000265459	ensembl	human	known	74_37	frame_shift_ins	12.99	67	10	INS	1.000:1.000	C
NUDT7	283927	genome.wustl.edu	37	16	77769784	77769784	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:77769784G>T	ENST00000268533.5	+	3	318	c.249G>T	c.(247-249)atG>atT	p.M83I	NUDT7_ENST00000568787.1_Missense_Mutation_p.M83I|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000437314.3_Intron|NUDT7_ENST00000564085.1_Missense_Mutation_p.M83I	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	83	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CTACAGACATGGATGATGCAG	0.527																																																	0													137.0	139.0	138.0					16																	77769784		1991	4171	6162	SO:0001583	missense	0			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.249G>T	16.37:g.77769784G>T	ENSP00000268533:p.Met83Ile		B4DLE5|H3BUB8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.M83I	ENST00000268533.5	37	c.249	CCDS42195.1	16	.	.	.	.	.	.	.	.	.	.	G	1.136	-0.650980	0.03506	.	.	ENSG00000140876	ENST00000268533	T	0.07688	3.17	5.63	0.841	0.18918	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	2.678240	0.01464	N	0.016005	T	0.02929	0.0087	N	0.00661	-1.28	0.52099	D	0.99994	B	0.02656	0.0	B	0.01281	0.0	T	0.36480	-0.9746	10	0.40728	T	0.16	3.2192	4.7397	0.13007	0.3611:0.1632:0.4757:0.0	.	83	P0C024	NUDT7_HUMAN	I	83	ENSP00000268533:M83I	ENSP00000268533:M83I	M	+	3	0	NUDT7	76327285	0.066000	0.20996	0.019000	0.16419	0.007000	0.05969	0.383000	0.20651	0.287000	0.22375	-0.224000	0.12420	ATG	NUDT7	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000140876		0.527	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1		0.00	46	0	G			77769784	+1			no_errors	ENST00000268533	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.183	T
OGFOD2	79676	genome.wustl.edu	37	12	123461286	123461286	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:123461286C>T	ENST00000228922.7	+	3	307	c.275C>T	c.(274-276)gCa>gTa	p.A92V	OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000545317.1_5'UTR|OGFOD2_ENST00000538628.1_5'UTR|OGFOD2_ENST00000536150.1_5'UTR|OGFOD2_ENST00000454694.2_5'UTR|OGFOD2_ENST00000545612.1_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000542678.1_Intron|ABCB9_ENST00000392439.3_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.A32V|ABCB9_ENST00000442028.2_5'Flank|OGFOD2_ENST00000542117.1_3'UTR			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	92							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TACCACCCGGCACGGCCTGAG	0.652																																																	0													38.0	48.0	44.0					12																	123461286		2189	4286	6475	SO:0001583	missense	0			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.275C>T	12.37:g.123461286C>T	ENSP00000228922:p.Ala92Val		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.A92V	ENST00000228922.7	37	c.275		12	.	.	.	.	.	.	.	.	.	.	C	7.920	0.738443	0.15574	.	.	ENSG00000111325	ENST00000397389;ENST00000228922;ENST00000537966	D;D	0.85556	-2.0;-2.0	5.67	0.147	0.14838	.	0.519558	0.22682	N	0.056940	T	0.73528	0.3598	L	0.54323	1.7	0.09310	N	1	P;B;B	0.37731	0.607;0.001;0.003	B;B;B	0.30782	0.12;0.003;0.004	T	0.60601	-0.7231	10	0.22109	T	0.4	-2.0736	5.6122	0.17412	0.1563:0.3836:0.0:0.4601	.	73;92;32	B4DZU3;Q6N063;Q6N063-2	.;OGFD2_HUMAN;.	V	32;92;165	ENSP00000380544:A32V;ENSP00000228922:A92V	ENSP00000228922:A92V	A	+	2	0	OGFOD2	122027239	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.379000	0.07437	0.079000	0.16929	-0.142000	0.14014	GCA	OGFOD2	-	NULL	ENSG00000111325		0.652	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	OGFOD2	HGNC	protein_coding	OTTHUMT00000400984.1	-	0.00	52	0	C	NM_024623		123461286	+1	tier1	-	no_errors	ENST00000228922	ensembl	human	known	74_37	missense	48.94	23	23	SNP	0.000	T
OR10K2	391107	genome.wustl.edu	37	1	158390306	158390306	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:158390306G>A	ENST00000314902.2	-	1	350	c.351C>T	c.(349-351)gtC>gtT	p.V117V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CATAACCCATGACTGCCAGCA	0.517																																																	0													176.0	171.0	173.0					1																	158390306		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.351C>T	1.37:g.158390306G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V117	ENST00000314902.2	37	c.351	CCDS30896.1	1																																																																																			OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180708		0.517	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	-	0.00	47	0	G	NM_001004476		158390306	-1	tier1	-	no_errors	ENST00000314902	ensembl	human	known	74_37	silent	41.46	24	17	SNP	0.993	A
OR2J3	442186	genome.wustl.edu	37	6	29080410	29080410	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:29080410T>G	ENST00000377169.1	+	1	743	c.743T>G	c.(742-744)cTt>cGt	p.L248R		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GGAGCTCATCTTATGGCTGTA	0.453																																																	0													117.0	120.0	119.0					6																	29080410		1267	2578	3845	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.743T>G	6.37:g.29080410T>G	ENSP00000366374:p.Leu248Arg		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L248R	ENST00000377169.1	37	c.743	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933827	0.34096	.	.	ENSG00000204701	ENST00000377169	T	0.51325	0.71	2.46	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72938	0.3523	H	0.98446	4.235	0.43242	D	0.995158	D	0.63880	0.993	D	0.76071	0.987	T	0.80341	-0.1423	9	0.87932	D	0	.	10.2503	0.43364	0.0:0.0:0.0:1.0	.	248	O76001	OR2J3_HUMAN	R	248	ENSP00000366374:L248R	ENSP00000366374:L248R	L	+	2	0	OR2J3	29188389	0.952000	0.32445	0.668000	0.29813	0.085000	0.17905	6.004000	0.70709	1.121000	0.41925	0.358000	0.22013	CTT	OR2J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000204701		0.453	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	-	0.00	80	0	T			29080410	+1	tier1	-	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	18.75	78	18	SNP	0.979	G
OR51T1	401665	genome.wustl.edu	37	11	4904056	4904056	+	Silent	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:4904056C>A	ENST00000322049.1	+	1	927	c.927C>A	c.(925-927)ctC>ctA	p.L309L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.L336L			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAGCTGCTCCAATCCAAGG	0.453																																																	0													82.0	79.0	80.0					11																	4904056		2201	4298	6499	SO:0001819	synonymous_variant	0			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.927C>A	11.37:g.4904056C>A			Q6IFH9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L336	ENST00000322049.1	37	c.1008		11																																																																																			OR51T1	-	NULL	ENSG00000176900		0.453	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	OR51T1	HGNC	protein_coding	OTTHUMT00000142180.1	-	0.00	42	0	C	NM_001004759		4904056	+1	tier1	-	no_errors	ENST00000380378	ensembl	human	known	74_37	silent	40.00	21	14	SNP	0.065	A
OR52K2	119774	genome.wustl.edu	37	11	4470965	4470965	+	Silent	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:4470965G>T	ENST00000325719.4	+	1	441	c.396G>T	c.(394-396)ctG>ctT	p.L132L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAAGCCACTGCACTACACCA	0.567																																																	0													108.0	95.0	99.0					11																	4470965		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.396G>T	11.37:g.4470965G>T			A8MUY8|B2RP35|Q6IFK4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L132	ENST00000325719.4	37	c.396	CCDS31351.1	11																																																																																			OR52K2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181963		0.567	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K2	HGNC	protein_coding	OTTHUMT00000385844.1	-	0.00	75	0	G	NM_001005172		4470965	+1	tier1	-	no_errors	ENST00000325719	ensembl	human	known	74_37	silent	58.70	37	54	SNP	0.986	T
OR52A1	23538	genome.wustl.edu	37	11	5172728	5172728	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:5172728T>C	ENST00000380367.1	-	2	1289	c.872A>G	c.(871-873)aAt>aGt	p.N291S	OR52A1_ENST00000328942.1_Missense_Mutation_p.N291S			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	291					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAAGTGGATTGAGAAATGG	0.393																																																	0													140.0	146.0	144.0					11																	5172728		2201	4297	6498	SO:0001583	missense	0			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.872A>G	11.37:g.5172728T>C	ENSP00000369725:p.Asn291Ser		Q6IF31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N291S	ENST00000380367.1	37	c.872	CCDS31374.1	11	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508799	0.85282	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.58652	0.32;0.32	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000058	D	0.83848	0.5343	H	0.97540	4.025	0.42866	D	0.994126	D	0.89917	1.0	D	0.87578	0.998	D	0.89582	0.3821	10	0.87932	D	0	.	13.8702	0.63615	0.0:0.0:0.0:1.0	.	291	Q9UKL2	O52A1_HUMAN	S	291	ENSP00000369725:N291S;ENSP00000333684:N291S	ENSP00000333684:N291S	N	-	2	0	OR52A1	5129304	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.454000	0.80714	2.155000	0.67459	0.533000	0.62120	AAT	OR52A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000182070		0.393	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	-	0.00	35	0	T	NM_012375		5172728	-1	tier1	-	no_errors	ENST00000328942	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	C
OR6C74	254783	genome.wustl.edu	37	12	55641873	55641873	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:55641873T>A	ENST00000343870.4	+	1	892	c.802T>A	c.(802-804)Tta>Ata	p.L268I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAGAGTGTCATTAAATAAAGG	0.393																																																	0													70.0	74.0	72.0					12																	55641873		2203	4300	6503	SO:0001583	missense	0				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.802T>A	12.37:g.55641873T>A	ENSP00000342836:p.Leu268Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L268I	ENST00000343870.4	37	c.802	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	t	9.630	1.136054	0.21123	.	.	ENSG00000197706	ENST00000343870	T	0.00202	8.56	5.48	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.170458	0.28225	N	0.016121	T	0.00109	0.0003	N	0.25647	0.755	0.09310	N	1	B	0.17667	0.023	B	0.22386	0.039	T	0.13442	-1.0509	10	0.13108	T	0.6	.	4.9341	0.13932	0.0:0.1669:0.2996:0.5335	.	268	A6NCV1	O6C74_HUMAN	I	268	ENSP00000342836:L268I	ENSP00000342836:L268I	L	+	1	2	OR6C74	53928140	0.002000	0.14202	0.674000	0.29902	0.974000	0.67602	0.249000	0.18216	0.432000	0.26286	0.455000	0.32223	TTA	OR6C74	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197706		0.393	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	-	0.00	26	0	T			55641873	+1	tier1	-	no_errors	ENST00000343870	ensembl	human	known	74_37	missense	54.55	15	18	SNP	0.000	A
PABPC5	140886	genome.wustl.edu	37	X	90690649	90690649	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:90690649T>G	ENST00000312600.3	+	2	287	c.73T>G	c.(73-75)Ttg>Gtg	p.L25V	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	25	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CGTGGGTGACTTGGACCCAGA	0.577																																																	0													73.0	56.0	62.0					X																	90690649		2203	4300	6503	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.73T>G	X.37:g.90690649T>G	ENSP00000308012:p.Leu25Val		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.L25V	ENST00000312600.3	37	c.73	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	T	15.73	2.921196	0.52653	.	.	ENSG00000174740	ENST00000312600	T	0.19806	2.12	4.43	2.06	0.26882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	M	0.90595	3.13	0.46131	D	0.99888	D	0.71674	0.998	D	0.80764	0.994	T	0.39121	-0.9629	10	0.87932	D	0	.	5.6935	0.17843	0.0:0.3396:0.0:0.6604	.	25	Q96DU9	PABP5_HUMAN	V	25	ENSP00000308012:L25V	ENSP00000308012:L25V	L	+	1	2	PABPC5	90577305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.442000	0.35046	0.319000	0.23209	0.486000	0.48141	TTG	PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000174740		0.577	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	-	0.00	22	0	T	NM_080832		90690649	+1	tier1	-	no_errors	ENST00000312600	ensembl	human	known	74_37	missense	88.89	3	24	SNP	1.000	G
PARP8	79668	genome.wustl.edu	37	5	50091052	50091052	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:50091052C>G	ENST00000281631.5	+	12	1387	c.1229C>G	c.(1228-1230)tCt>tGt	p.S410C	PARP8_ENST00000514067.2_Missense_Mutation_p.S410C|PARP8_ENST00000503750.2_Missense_Mutation_p.S410C|PARP8_ENST00000505697.2_Missense_Mutation_p.S410C|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.S163C|PARP8_ENST00000505554.1_Missense_Mutation_p.S389C	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	410						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTAAGCAGGTCTTACTCTAGT	0.418																																																	0													85.0	83.0	84.0					5																	50091052		2203	4300	6503	SO:0001583	missense	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1229C>G	5.37:g.50091052C>G	ENSP00000281631:p.Ser410Cys		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S410C	ENST00000281631.5	37	c.1229	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219120	0.79464	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	L	0.38175	1.15	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.987;0.987;0.993	T	0.69296	-0.5182	8	.	.	.	-13.7987	19.329	0.94278	0.0:1.0:0.0:0.0	.	302;410;410	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	C	410;410;163;410;410;389;163;163	.	.	S	+	2	0	PARP8	50126809	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.421000	0.73353	2.605000	0.88082	0.655000	0.94253	TCT	PARP8	-	NULL	ENSG00000151883		0.418	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	-	0.00	44	0	C	NM_024615		50091052	+1	tier1	-	no_errors	ENST00000281631	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	G
PCDH9	5101	genome.wustl.edu	37	13	67799860	67799860	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:67799860T>C	ENST00000377865.2	-	1	2847	c.2713A>G	c.(2713-2715)Agc>Ggc	p.S905G	PCDH9_ENST00000328454.5_Missense_Mutation_p.S905G|PCDH9_ENST00000544246.1_Missense_Mutation_p.S905G|PCDH9_ENST00000456367.1_Missense_Mutation_p.S905G|PCDH9_ENST00000377861.3_Missense_Mutation_p.S905G			Q9HC56	PCDH9_HUMAN	protocadherin 9	905					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCCGGCAGGCTTATTGTCCCA	0.473																																																	0													102.0	104.0	103.0					13																	67799860		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2713A>G	13.37:g.67799860T>C	ENSP00000367096:p.Ser905Gly		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S905G	ENST00000377865.2	37	c.2713	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425316	0.25639	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.53	5.53	0.82687	Protocadherin (1);	0.041576	0.85682	D	0.000000	T	0.27900	0.0687	L	0.28192	0.835	0.58432	D	0.999998	B;B;B;B	0.20368	0.044;0.002;0.036;0.044	B;B;B;B	0.19946	0.027;0.01;0.016;0.027	T	0.05566	-1.0877	10	0.22706	T	0.39	.	15.6523	0.77108	0.0:0.0:0.0:1.0	.	905;905;905;905	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	G	905	ENSP00000442186:S905G;ENSP00000367096:S905G;ENSP00000401699:S905G;ENSP00000332060:S905G;ENSP00000367092:S905G	ENSP00000332060:S905G	S	-	1	0	PCDH9	66697861	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	6.296000	0.72751	2.105000	0.64084	0.459000	0.35465	AGC	PCDH9	-	pfam_Protocadherin	ENSG00000184226		0.473	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	35	0	T	NM_203487		67799860	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	C
PCDHA5	56143	genome.wustl.edu	37	5	140201528	140201528	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:140201528G>A	ENST00000529859.1	+	1	168	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.A56A|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A56A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.627																																																	1	Deletion - Frameshift(1)	breast(1)											59.0	69.0	65.0					5																	140201528		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.168G>A	5.37:g.140201528G>A			O75284|Q8N4R3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A56	ENST00000529859.1	37	c.168	CCDS54917.1	5																																																																																			PCDHA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204965		0.627	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	-	0.00	60	0	G	NM_018908		140201528	+1	tier1	-	no_errors	ENST00000529859	ensembl	human	known	74_37	silent	10.91	49	6	SNP	0.000	A
PCDHA11	56138	genome.wustl.edu	37	5	140250658	140250658	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:140250658C>T	ENST00000398640.2	+	1	1970	c.1970C>T	c.(1969-1971)gCg>gTg	p.A657V	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCCGGCGCTGACGGCC	0.677																																																	0													31.0	37.0	35.0					5																	140250658		2199	4297	6496	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1970C>T	5.37:g.140250658C>T	ENSP00000381636:p.Ala657Val		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A657V	ENST00000398640.2	37	c.1970	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	3.468	-0.108514	0.06924	.	.	ENSG00000249158	ENST00000398640	T	0.53206	0.63	4.61	-0.501	0.12008	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35278	0.0926	L	0.46614	1.455	0.09310	N	1	B;B	0.18166	0.021;0.026	B;B	0.21708	0.022;0.036	T	0.35724	-0.9777	9	0.54805	T	0.06	.	2.576	0.04807	0.1163:0.496:0.1137:0.274	.	657;657	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	657	ENSP00000381636:A657V	ENSP00000381636:A657V	A	+	2	0	PCDHA11	140230842	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.694000	0.25512	-0.174000	0.10743	0.561000	0.74099	GCG	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0.00	52	0	C	NM_018902		140250658	+1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	14.67	64	11	SNP	0.025	T
PCDHB1	29930	genome.wustl.edu	37	5	140431977	140431977	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:140431977G>T	ENST00000306549.3	+	1	999	c.922G>T	c.(922-924)Gat>Tat	p.D308Y		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGACCCCTCGATTTTGAAGC	0.448																																																	0													94.0	94.0	94.0					5																	140431977		2203	4300	6503	SO:0001583	missense	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.922G>T	5.37:g.140431977G>T	ENSP00000307234:p.Asp308Tyr		Q2M257	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D308Y	ENST00000306549.3	37	c.922	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919372	0.52653	.	.	ENSG00000171815	ENST00000306549	T	0.65549	-0.16	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000154	D	0.90796	0.7110	H	0.99952	5.035	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	D	0.94533	0.7738	10	0.87932	D	0	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	308	Q9Y5F3	PCDB1_HUMAN	Y	308	ENSP00000307234:D308Y	ENSP00000307234:D308Y	D	+	1	0	PCDHB1	140412161	1.000000	0.71417	0.981000	0.43875	0.606000	0.37113	6.739000	0.74827	2.941000	0.99782	0.655000	0.94253	GAT	PCDHB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000171815		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2		0.00	32	0	G	NM_013340		140431977	+1			no_errors	ENST00000306549	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
PDE8B	8622	genome.wustl.edu	37	5	76707514	76707514	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:76707514G>C	ENST00000264917.5	+	15	1589	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	PDE8B_ENST00000340978.3_Missense_Mutation_p.R468T|PDE8B_ENST00000346042.3_Missense_Mutation_p.R418T|PDE8B_ENST00000505283.1_5'UTR|PDE8B_ENST00000333194.4_Missense_Mutation_p.R460T|PDE8B_ENST00000342343.4_Missense_Mutation_p.R495T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	515					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GGCTTGAGAAGACTGTCAGGA	0.373																																																	0													93.0	88.0	89.0					5																	76707514		2203	4300	6503	SO:0001583	missense	0			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1544G>C	5.37:g.76707514G>C	ENSP00000264917:p.Arg515Thr		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.R515T	ENST00000264917.5	37	c.1544	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513924	0.85389	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.72167	-0.36;-0.63;-0.36;-0.36;-0.62	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;0.998	D;D;D;D;D	0.80764	0.979;0.991;0.994;0.975;0.945	D	0.86960	0.2091	10	0.54805	T	0.06	.	18.5762	0.91155	0.0:0.0:1.0:0.0	.	418;468;460;495;515	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	468;418;515;495;460	ENSP00000345446:R468T;ENSP00000330428:R418T;ENSP00000264917:R515T;ENSP00000345646:R495T;ENSP00000331336:R460T	ENSP00000264917:R515T	R	+	2	0	PDE8B	76743270	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	9.808000	0.99193	2.393000	0.81446	0.655000	0.94253	AGA	PDE8B	-	NULL	ENSG00000113231		0.373	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	-	0.00	56	0	G	NM_003719		76707514	+1	tier1	-	no_errors	ENST00000264917	ensembl	human	known	74_37	missense	57.89	16	22	SNP	1.000	C
PCDHB16	57717	genome.wustl.edu	37	5	140563423	140563423	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:140563423G>A	ENST00000361016.2	+	1	2444	c.1289G>A	c.(1288-1290)aGg>aAg	p.R430K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACTCCAAGGCTGAAAACG	0.483																																																	0													111.0	108.0	109.0					5																	140563423		2203	4300	6503	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1289G>A	5.37:g.140563423G>A	ENSP00000354293:p.Arg430Lys		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R430K	ENST00000361016.2	37	c.1289	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	G	9.839	1.190456	0.21954	.	.	ENSG00000196963	ENST00000361016	T	0.51325	0.71	4.3	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52645	0.1747	M	0.84326	2.69	0.25095	N	0.990827	B;B	0.22480	0.002;0.07	B;B	0.33690	0.005;0.168	T	0.50092	-0.8868	9	0.34782	T	0.22	.	7.5879	0.28004	0.0901:0.1683:0.7415:0.0	.	120;430	O15199;Q9NRJ7	.;PCDBG_HUMAN	K	430	ENSP00000354293:R430K	ENSP00000354293:R430K	R	+	2	0	PCDHB16	140543607	0.008000	0.16893	0.617000	0.29091	0.003000	0.03518	1.701000	0.37825	0.772000	0.33382	-0.283000	0.09986	AGG	PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196963		0.483	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	-	0.00	74	0	G	NM_020957		140563423	+1	tier1	-	no_errors	ENST00000361016	ensembl	human	known	74_37	missense	55.81	18	24	SNP	0.840	A
PDZRN3	23024	genome.wustl.edu	37	3	73433145	73433145	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:73433145C>T	ENST00000263666.4	-	10	2686	c.2572G>A	c.(2572-2574)Gcc>Acc	p.A858T	PDZRN3_ENST00000535920.1_Missense_Mutation_p.A580T|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.A515T|PDZRN3_ENST00000462146.2_Missense_Mutation_p.A515T|PDZRN3_ENST00000479530.1_Missense_Mutation_p.A575T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	858					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGCAGGTAGGCGCTGCCCAGC	0.652																																																	0													52.0	56.0	54.0					3																	73433145		2203	4300	6503	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2572G>A	3.37:g.73433145C>T	ENSP00000263666:p.Ala858Thr		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.A858T	ENST00000263666.4	37	c.2572	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	7.608	0.674140	0.14841	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.13	3.07	0.35406	.	1.141600	0.06429	N	0.723753	T	0.52419	0.1733	N	0.08118	0	0.09310	N	1	B;B;B;B	0.29270	0.24;0.127;0.045;0.039	B;B;B;B	0.25987	0.065;0.01;0.011;0.014	T	0.47586	-0.9106	10	0.51188	T	0.08	.	2.3296	0.04232	0.4843:0.2974:0.104:0.1144	.	580;575;575;858	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	T	858;580;515;515;575	ENSP00000263666:A858T;ENSP00000442026:A580T;ENSP00000418168:A515T;ENSP00000418484:A515T;ENSP00000418624:A575T	ENSP00000263666:A858T	A	-	1	0	PDZRN3	73515835	0.036000	0.19791	0.017000	0.16124	0.553000	0.35397	0.290000	0.18975	0.460000	0.27045	0.655000	0.94253	GCC	PDZRN3	-	NULL	ENSG00000121440		0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0.00	49	0	C	XM_041363		73433145	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	50.68	36	37	SNP	0.036	T
PHF21B	112885	genome.wustl.edu	37	22	45309798	45309798	+	Silent	SNP	C	C	T	rs147703835		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:45309798C>T	ENST00000313237.5	-	5	885	c.735G>A	c.(733-735)acG>acA	p.T245T	PHF21B_ENST00000396103.3_Silent_p.T203T|PHF21B_ENST00000403565.1_Silent_p.T41T|PHF21B_ENST00000404079.2_Silent_p.T191T|PHF21B_ENST00000447824.3_Silent_p.T191T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	245							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCGACTCTGCCGTGCTCTCGG	0.632																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	82.0	82.0	82.0		609,573,735	-3.1	0.0	22	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PHF21B	NM_001135862.2,NM_001242450.1,NM_138415.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	203/490,191/478,245/532	45309798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.735G>A	22.37:g.45309798C>T			B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T245	ENST00000313237.5	37	c.735	CCDS14061.1	22																																																																																			PHF21B	-	NULL	ENSG00000056487		0.632	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0.00	68	0	C	NM_138415		45309798	-1	tier1	rs147703835	no_errors	ENST00000313237	ensembl	human	known	74_37	silent	18.18	54	12	SNP	0.003	T
POC5	134359	genome.wustl.edu	37	5	74990572	74990572	+	Missense_Mutation	SNP	G	G	A	rs201679415		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:74990572G>A	ENST00000428202.2	-	6	787	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	POC5_ENST00000380475.2_Missense_Mutation_p.H83Y|POC5_ENST00000504862.1_5'UTR|POC5_ENST00000510798.1_Missense_Mutation_p.H83Y|POC5_ENST00000514838.2_Missense_Mutation_p.H172Y|POC5_ENST00000446329.2_Missense_Mutation_p.H175Y	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	200					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTGCTGCATGTTTTTCTTTC	0.323																																																	0													67.0	64.0	65.0					5																	74990572		1809	4085	5894	SO:0001583	missense	0			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.598C>T	5.37:g.74990572G>A	ENSP00000410216:p.His200Tyr		B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	NULL	p.H200Y	ENST00000428202.2	37	c.598	CCDS47236.1	5	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474120	0.43942	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329;ENST00000503835	T;T;T;T;T;T	0.51071	1.74;1.33;0.72;0.72;1.73;2.58	5.42	4.51	0.55191	.	0.264187	0.43110	D	0.000611	T	0.60663	0.2286	M	0.78637	2.42	0.47183	D	0.999349	D;B;P	0.53745	0.962;0.118;0.589	P;B;P	0.51453	0.67;0.109;0.474	T	0.67960	-0.5535	10	0.72032	D	0.01	-4.4135	15.5631	0.76266	0.0:0.0:0.8615:0.1385	.	83;200;175	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	Y	200;172;83;83;175;83	ENSP00000410216:H200Y;ENSP00000420971:H172Y;ENSP00000369842:H83Y;ENSP00000426796:H83Y;ENSP00000399481:H175Y;ENSP00000424264:H83Y	ENSP00000369842:H83Y	H	-	1	0	POC5	75026328	1.000000	0.71417	0.709000	0.30452	0.787000	0.44495	3.940000	0.56599	2.551000	0.86045	0.650000	0.86243	CAT	POC5	-	NULL	ENSG00000152359		0.323	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC5	HGNC	protein_coding	OTTHUMT00000369124.1	-	0.00	29	0	G	NM_152408		74990572	-1	tier1	rs201679415	no_errors	ENST00000428202	ensembl	human	known	74_37	missense	76.47	4	13	SNP	0.998	A
POM121L2	94026	genome.wustl.edu	37	6	27278728	27278728	+	Silent	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:27278728A>G	ENST00000444565.1	-	1	1221	c.1222T>C	c.(1222-1224)Tta>Cta	p.L408L	POM121L2_ENST00000377451.2_Intron	NM_033482.3	NP_258443.2	Q96KW2	P12L2_HUMAN	POM121 transmembrane nucleoporin-like 2	408										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	7						ATTTTTCTTAAGTTTTCCAAC	0.502																																																	0													79.0	68.0	71.0					6																	27278728		692	1591	2283	SO:0001819	synonymous_variant	0			AL021808	CCDS59497.1	6p21.3	2012-03-13	2012-03-13		ENSG00000158553	ENSG00000158553			13973	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 2 (rat)"", ""POM121 membrane glycoprotein-like 2"""				Standard	NM_033482		Approved	POM121-L	uc011dku.1	Q96KW2	OTTHUMG00000014475	ENST00000444565.1:c.1222T>C	6.37:g.27278728A>G			C9J1I7	Silent	SNP	NULL	p.L408	ENST00000444565.1	37	c.1222	CCDS59497.1	6																																																																																			POM121L2	-	NULL	ENSG00000158553		0.502	POM121L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L2	HGNC	protein_coding	OTTHUMT00000040143.2	-	0.00	28	0	A	NM_033482		27278728	-1	tier1	-	no_errors	ENST00000444565	ensembl	human	known	74_37	silent	35.00	26	14	SNP	0.000	G
PPFIA3	8541	genome.wustl.edu	37	19	49652560	49652560	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:49652560G>T	ENST00000334186.4	+	27	3681	c.3332G>T	c.(3331-3333)gGc>gTc	p.G1111V	PPFIA3_ENST00000602351.1_Missense_Mutation_p.G1102V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1111					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATCTCCTTAGGCACAGACAGG	0.657																																																	0													36.0	41.0	40.0					19																	49652560		2203	4299	6502	SO:0001583	missense	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3332G>T	19.37:g.49652560G>T	ENSP00000335614:p.Gly1111Val		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.G1111V	ENST00000334186.4	37	c.3332	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908474	0.72868	.	.	ENSG00000177380	ENST00000334186	T	0.21734	1.99	4.16	4.16	0.48862	Sterile alpha motif/pointed domain (1);	0.000000	0.48286	D	0.000183	T	0.44519	0.1297	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.67103	0.949;0.937	T	0.49011	-0.8983	10	0.87932	D	0	-18.1197	15.7409	0.77894	0.0:0.0:1.0:0.0	.	1102;1111	O75145-2;O75145	.;LIPA3_HUMAN	V	1111	ENSP00000335614:G1111V	ENSP00000335614:G1111V	G	+	2	0	PPFIA3	54344372	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.008000	0.63991	2.321000	0.78463	0.462000	0.41574	GGC	PPFIA3	-	superfamily_SAM/pointed	ENSG00000177380		0.657	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1		0.00	36	0	G	NM_003660		49652560	+1			no_errors	ENST00000334186	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T
PRAMEF12	390999	genome.wustl.edu	37	1	12835214	12835214	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:12835214C>T	ENST00000357726.4	+	1	231	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	68					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTAGGGTCCCTGATGAAGT	0.562																																																	0													79.0	84.0	82.0					1																	12835214		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.204C>T	1.37:g.12835214C>T				Silent	SNP	NULL	p.S68	ENST00000357726.4	37	c.204	CCDS41254.1	1																																																																																			PRAMEF12	-	NULL	ENSG00000116726		0.562	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	HGNC	protein_coding	OTTHUMT00000005457.1	-	0.00	100	0	C	XM_372760		12835214	+1	tier1	-	no_errors	ENST00000357726	ensembl	human	known	74_37	silent	58.06	39	54	SNP	0.005	T
PRAMEF6	440561	genome.wustl.edu	37	1	13001274	13001274	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:13001274C>G	ENST00000376189.1	-	3	508	c.409G>C	c.(409-411)Gac>Cac	p.D137H	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.D137H	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	137					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGACAGTCCTGCACTGGT	0.502																																																	0													340.0	594.0	503.0					1																	13001274		1508	2708	4216	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.409G>C	1.37:g.13001274C>G	ENSP00000365360:p.Asp137His		A0AUJ9	Missense_Mutation	SNP	NULL	p.D137H	ENST00000376189.1	37	c.409	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	2.101	-0.406012	0.04832	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.20881	2.04;2.04;2.04	1.11	-1.44	0.08856	.	2.749980	0.01273	N	0.009510	T	0.19886	0.0478	L	0.52364	1.645	0.09310	N	1	B	0.12630	0.006	B	0.16289	0.015	T	0.21381	-1.0247	10	0.51188	T	0.08	.	3.3983	0.07313	0.2789:0.4451:0.276:0.0	.	137	Q5VXH4	PRAM6_HUMAN	H	137	ENSP00000365360:D137H;ENSP00000401281:D137H;ENSP00000347211:D137H	ENSP00000347211:D137H	D	-	1	0	PRAMEF6	12923861	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.472000	0.02341	-0.555000	0.06142	-1.597000	0.00832	GAC	PRAMEF6	-	NULL	ENSG00000232423		0.502	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0.00	404	0	C	NM_001010889		13001274	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	6.99	359	27	SNP	0.000	G
PRKD1	5587	genome.wustl.edu	37	14	30066913	30066913	+	Silent	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:30066913G>T	ENST00000331968.5	-	16	2447	c.2218C>A	c.(2218-2220)Cgg>Agg	p.R740R	PRKD1_ENST00000415220.2_Silent_p.R748R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACTGACCTCCGGAAAGACTTC	0.483																																																	0													69.0	71.0	70.0					14																	30066913		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2218C>A	14.37:g.30066913G>T			A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R740	ENST00000331968.5	37	c.2218	CCDS9637.1	14																																																																																			PRKD1	-	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	ENSG00000184304		0.483	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2		0.00	22	0	G	NM_002742		30066913	-1			no_errors	ENST00000331968	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	T
PROX1	5629	genome.wustl.edu	37	1	214171262	214171262	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:214171262C>A	ENST00000366958.4	+	2	1992	c.1384C>A	c.(1384-1386)Cag>Aag	p.Q462K	PROX1_ENST00000498508.2_Missense_Mutation_p.Q462K|PROX1_ENST00000435016.1_Missense_Mutation_p.Q462K|PROX1_ENST00000261454.4_Missense_Mutation_p.Q462K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	462					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGGCCACCACCAGCCCCTGCA	0.637																																																	0													64.0	78.0	73.0					1																	214171262		2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1384C>A	1.37:g.214171262C>A	ENSP00000355925:p.Gln462Lys		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.Q462K	ENST00000366958.4	37	c.1384	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236767	0.22711	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.71	5.71	0.89125	.	0.105477	0.64402	D	0.000004	T	0.25975	0.0633	N	0.08118	0	0.34058	D	0.657002	B	0.09022	0.002	B	0.10450	0.005	T	0.23048	-1.0199	10	0.25751	T	0.34	-4.393	16.3519	0.83215	0.0:0.8594:0.1406:0.0	.	462	Q92786	PROX1_HUMAN	K	34;462;462;462;462	ENSP00000420283:Q462K;ENSP00000355925:Q462K;ENSP00000400694:Q462K;ENSP00000261454:Q462K	ENSP00000261454:Q462K	Q	+	1	0	PROX1	212237885	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.330000	0.52068	2.697000	0.92050	0.655000	0.94253	CAG	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.637	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0.00	26	0	C	NM_002763		214171262	+1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	52.63	18	20	SNP	1.000	A
PSG11	5680	genome.wustl.edu	37	19	43523013	43523013	+	Silent	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:43523013A>G	ENST00000401740.1	-	3	721	c.618T>C	c.(616-618)ggT>ggC	p.G206G	PSG11_ENST00000403486.1_Silent_p.G84G|PSG11_ENST00000320078.7_Silent_p.G206G|PSG11_ENST00000306322.7_Silent_p.G84G|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	206	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACTTTGTGACACCAAATAGAA	0.512																																																	0													241.0	252.0	248.0					19																	43523013		2200	4298	6498	SO:0001819	synonymous_variant	0			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.618T>C	19.37:g.43523013A>G			B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G206	ENST00000401740.1	37	c.618	CCDS12614.2	19																																																																																			PSG11	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000243130		0.512	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1	-	0.00	190	0	A	NM_002785		43523013	-1	tier1	-	no_errors	ENST00000320078	ensembl	human	known	74_37	silent	43.80	154	120	SNP	0.000	G
PUM2	23369	genome.wustl.edu	37	2	20458106	20458106	+	Silent	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:20458106G>A	ENST00000361078.2	-	15	2404	c.2382C>T	c.(2380-2382)gcC>gcT	p.A794A	PUM2_ENST00000319801.5_Silent_p.A715A|PUM2_ENST00000403432.1_Silent_p.A794A|PUM2_ENST00000536417.1_Silent_p.A738A|PUM2_ENST00000338086.5_Silent_p.A794A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	794	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTAGCCAGGGCTAATTTTT	0.398																																																	0													97.0	94.0	95.0					2																	20458106		2203	4300	6503	SO:0001819	synonymous_variant	0			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2382C>T	2.37:g.20458106G>A			B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.A794	ENST00000361078.2	37	c.2382		2																																																																																			PUM2	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	ENSG00000055917		0.398	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		-	0.00	35	0	G	NM_015317		20458106	-1	tier1	-	no_errors	ENST00000361078	ensembl	human	known	74_37	silent	33.33	46	23	SNP	0.992	A
QRICH1	54870	genome.wustl.edu	37	3	49094421	49094421	+	Silent	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:49094421G>T	ENST00000395443.2	-	3	1684	c.1212C>A	c.(1210-1212)ggC>ggA	p.G404G	QRICH1_ENST00000424300.1_Silent_p.G404G|QRICH1_ENST00000357496.2_Silent_p.G404G|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	404	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCTGGTACGTGCCTGCCACAG	0.552																																																	0													101.0	90.0	94.0					3																	49094421		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1212C>A	3.37:g.49094421G>T			Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	pfam_DUF3504,superfamily_DEATH-like_dom	p.G404	ENST00000395443.2	37	c.1212	CCDS2787.1	3																																																																																			QRICH1	-	NULL	ENSG00000198218		0.552	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1		0.00	35	0	G	NM_017730		49094421	-1			no_errors	ENST00000357496	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T
RANBP17	64901	genome.wustl.edu	37	5	170351515	170351515	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:170351515C>T	ENST00000523189.1	+	12	1593	c.1429C>T	c.(1429-1431)Cca>Tca	p.P477S		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	477					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTTCTGCATCCATATTCTGG	0.368			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													156.0	139.0	145.0					5																	170351515		2203	4300	6503	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1429C>T	5.37:g.170351515C>T	ENSP00000427975:p.Pro477Ser		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.P477S	ENST00000523189.1	37	c.1429	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	c	2.337	-0.352076	0.05173	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.21191	2.02	6.16	-1.68	0.08212	Armadillo-type fold (1);	0.639474	0.14695	N	0.303903	T	0.03871	0.0109	N	0.01081	-1.03	0.26304	N	0.977936	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	10	0.02654	T	1	-1.9979	3.085	0.06275	0.2203:0.0636:0.3411:0.375	.	477	Q9H2T7	RBP17_HUMAN	S	477;373	ENSP00000427975:P477S	ENSP00000373770:P477S	P	+	1	0	RANBP17	170284120	1.000000	0.71417	0.579000	0.28588	0.687000	0.40016	2.518000	0.45537	-0.098000	0.12285	-0.300000	0.09419	CCA	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.368	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1		0.00	30	0	C	NM_022897		170351515	+1			no_errors	ENST00000523189	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.981	T
RELN	5649	genome.wustl.edu	37	7	103338429	103338429	+	Silent	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:103338429C>A	ENST00000428762.1	-	10	1173	c.1014G>T	c.(1012-1014)gtG>gtT	p.V338V	RELN_ENST00000424685.2_Silent_p.V338V|RELN_ENST00000343529.5_Silent_p.V338V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	338					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGCTTCATACACTTCACCTA	0.458																																					NSCLC(146;835 1944 15585 22231 52158)												0													232.0	205.0	214.0					7																	103338429		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1014G>T	7.37:g.103338429C>A			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.V338	ENST00000428762.1	37	c.1014	CCDS47680.1	7																																																																																			RELN	-	NULL	ENSG00000189056		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0.00	59	0	C	NM_005045		103338429	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	37.61	68	41	SNP	0.997	A
RHBDF2	79651	genome.wustl.edu	37	17	74468104	74468104	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:74468104G>A	ENST00000313080.4	-	19	2455	c.2182C>T	c.(2182-2184)Ctc>Ttc	p.L728F	RHBDF2_ENST00000389760.4_Missense_Mutation_p.L699F|RHBDF2_ENST00000591885.1_Missense_Mutation_p.L699F	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	728					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						AGGCAGGCGAGGAGGCCGAAC	0.692																																																	0													17.0	17.0	17.0					17																	74468104		2179	4286	6465	SO:0001583	missense	0			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2182C>T	17.37:g.74468104G>A	ENSP00000322775:p.Leu728Phe		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.L728F	ENST00000313080.4	37	c.2182	CCDS32743.1	17	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866465	0.72065	.	.	ENSG00000129667	ENST00000313080;ENST00000389760	T;T	0.18338	2.22;2.22	4.52	4.52	0.55395	Peptidase S54, rhomboid domain (1);	0.000000	0.64402	D	0.000001	T	0.26376	0.0644	L	0.35288	1.05	0.58432	D	0.999999	D;D	0.54601	0.967;0.959	P;P	0.61132	0.884;0.816	T	0.01111	-1.1448	10	0.87932	D	0	-40.8849	11.9619	0.53013	0.0839:0.0:0.9161:0.0	.	728;699	Q6PJF5;Q6PJF5-2	RHDF2_HUMAN;.	F	728;699	ENSP00000322775:L728F;ENSP00000374410:L699F	ENSP00000322775:L728F	L	-	1	0	RHBDF2	71979699	1.000000	0.71417	0.979000	0.43373	0.873000	0.50193	5.480000	0.66820	2.376000	0.81061	0.467000	0.42956	CTC	RHBDF2	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000129667		0.692	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	-	0.00	29	0	G	NM_024599		74468104	-1	tier1	-	no_errors	ENST00000313080	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	A
RHCG	51458	genome.wustl.edu	37	15	90026363	90026363	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:90026363T>C	ENST00000268122.4	-	3	525	c.457A>G	c.(457-459)Atc>Gtc	p.I153V	RHCG_ENST00000544600.1_Missense_Mutation_p.I153V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	153					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AAAGTCATGATGAGCAGCTGA	0.547																																																	0													71.0	55.0	61.0					15																	90026363		2200	4299	6499	SO:0001583	missense	0			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.457A>G	15.37:g.90026363T>C	ENSP00000268122:p.Ile153Val		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.I153V	ENST00000268122.4	37	c.457	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	T	7.659	0.684452	0.14973	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.22336	1.96;1.96	5.47	1.75	0.24633	Ammonium transporter AmtB-like (3);	0.228971	0.47093	N	0.000251	T	0.07908	0.0198	N	0.04805	-0.155	0.48135	D	0.999595	B;B	0.13594	0.008;0.008	B;B	0.18871	0.023;0.023	T	0.29150	-1.0021	9	.	.	.	-25.0842	5.3848	0.16213	0.0:0.2117:0.2818:0.5065	.	153;153	A8K4D4;Q9UBD6	.;RHCG_HUMAN	V	153;153;144	ENSP00000438123:I153V;ENSP00000268122:I153V	.	I	-	1	0	RHCG	87827367	0.957000	0.32711	0.999000	0.59377	0.873000	0.50193	0.056000	0.14256	0.038000	0.15604	0.533000	0.62120	ATC	RHCG	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	ENSG00000140519		0.547	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	-	0.00	39	0	T	NM_016321		90026363	-1	tier1	-	no_errors	ENST00000268122	ensembl	human	known	74_37	missense	76.19	25	80	SNP	1.000	C
RIMS1	22999	genome.wustl.edu	37	6	73111022	73111022	+	IGR	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:73111022C>T	ENST00000521978.1	+	0	5079				RIMS1_ENST00000414192.2_3'UTR|RIMS1_ENST00000348717.5_3'UTR|RIMS1_ENST00000264839.7_3'UTR|RIMS1_ENST00000431478.2_3'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGTAGTCTCTGTAGCATCT	0.378																																																	0																																										SO:0001628	intergenic_variant	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009		6.37:g.73111022C>T			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	RNA	SNP	-	NULL	ENST00000521978.1	37	NULL	CCDS47449.1	6																																																																																			RIMS1	-	-	ENSG00000079841		0.378	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	35	0	C			73111022	+1	tier1	-	no_errors	ENST00000431478	ensembl	human	known	74_37	rna	14.81	23	4	SNP	1.000	T
DZANK1	55184	genome.wustl.edu	37	20	18414516	18414516	+	Intron	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr20:18414516G>A	ENST00000358866.6	-	8	770				DZANK1_ENST00000262547.5_Intron|DZANK1_ENST00000357236.4_Intron|RNA5SP476_ENST00000516613.1_RNA|DZANK1_ENST00000329494.5_Intron|DZANK1_ENST00000487128.1_Intron			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1								zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						gaacattcccgatctcatctg	0.368																																																	0																																										SO:0001627	intron_variant	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.748-107C>T	20.37:g.18414516G>A			B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	RNA	SNP	-	NULL	ENST00000358866.6	37	NULL	CCDS46582.1	20																																																																																			RNA5SP476	-	-	ENSG00000252422		0.368	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RNA5SP476	HGNC	protein_coding	OTTHUMT00000471926.1	-	0.00	13	0	G	NM_001099407		18414516	+1	tier1	-	no_errors	ENST00000516613	ensembl	human	known	74_37	rna	53.85	6	7	SNP	0.003	A
RNF8	9025	genome.wustl.edu	37	6	37342482	37342482	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:37342482C>T	ENST00000373479.4	+	5	1318	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	RNF8_ENST00000469731.1_Silent_p.T375T	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	375					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TAGAGCAGACCAAGGTACTGG	0.398																																																	0													99.0	93.0	95.0					6																	37342482		2203	4300	6503	SO:0001819	synonymous_variant	0			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1125C>T	6.37:g.37342482C>T			A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Silent	SNP	pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING	p.T375	ENST00000373479.4	37	c.1125	CCDS4834.1	6																																																																																			RNF8	-	pirsf_E3_Ub_ligase_RNF8	ENSG00000112130		0.398	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF8	HGNC	protein_coding	OTTHUMT00000040403.2	-	0.00	36	0	C			37342482	+1	tier1	-	no_errors	ENST00000373479	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	T
ROBO2	6092	genome.wustl.edu	37	3	77657037	77657038	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:77657037_77657038insC	ENST00000461745.1	+	21	4125_4126	c.3225_3226insC	c.(3226-3228)cccfs	p.P1076fs	ROBO2_ENST00000487694.3_Frame_Shift_Ins_p.P1092fs|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Frame_Shift_Ins_p.P1076fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1076					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V1079fs*22(1)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431																																																	2	Insertion - Frameshift(2)	biliary_tract(2)							,	35,3481		0,35,1723					,	5.9	1.0			72	22,7778		0,22,3878	no	frameshift,frameshift	ROBO2	NM_002942.4,NM_001128929.2	,	0,57,5601	A1A1,A1R,RR		0.2821,0.9954,0.5037	,	,		57,11259				SO:0001589	frameshift_variant	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3233dupC	3.37:g.77657045_77657045dupC	ENSP00000417164:p.Pro1076fs		O43608|Q19AB4|Q19AB5	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1078fs	ENST00000461745.1	37	c.3225_3226	CCDS43109.1	3																																																																																			ROBO2	-	NULL	ENSG00000185008		0.431	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2		0.00	19	0	-	XM_031246		77657038	+1	tier1		no_errors	ENST00000461745	ensembl	human	known	74_37	frame_shift_ins	13.04	40	6	INS	1.000:1.000	C
RPL7A	6130	genome.wustl.edu	37	9	136217908	136217909	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:136217908_136217909insA	ENST00000323345.6	+	7	708_709	c.678_679insA	c.(679-681)aatfs	p.N227fs	MED22_ENST00000471524.1_5'Flank|RPL7A_ENST00000315731.4_Frame_Shift_Ins_p.N112fs|SURF1_ENST00000495952.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|RPL7A_ENST00000463740.1_3'UTR|MED22_ENST00000344469.5_5'Flank|SNORD24_ENST00000383884.1_RNA|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000371999.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000343730.5_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	227					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GGACCAATTACAATGACAGATA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.680dupA	9.37:g.136217910_136217910dupA	ENSP00000361076:p.Asn227fs		P11518|Q5T8U4	Frame_Shift_Ins	INS	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.N226fs	ENST00000323345.6	37	c.678_679	CCDS6965.1	9																																																																																			RPL7A	-	prints_Ribosomal_L7A/L8	ENSG00000148303		0.436	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1		0.00	46	0	-	NM_000972		136217909	+1	tier1		no_errors	ENST00000323345	ensembl	human	known	74_37	frame_shift_ins	43.75	27	21	INS	1.000:1.000	A
RRAGB	10325	genome.wustl.edu	37	X	55744781	55744781	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:55744781G>T	ENST00000262850.7	+	1	464	c.21G>T	c.(19-21)gaG>gaT	p.E7D	RRAGB_ENST00000374941.4_Missense_Mutation_p.E7D	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CTGACTCTGAGAAAACGACGG	0.458											OREG0019812	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													77.0	72.0	74.0					X																	55744781		2203	4300	6503	SO:0001583	missense	0			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.21G>T	X.37:g.55744781G>T	ENSP00000262850:p.Glu7Asp	1010		Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.E7D	ENST00000262850.7	37	c.21	CCDS14372.1	X	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894848	0.52121	.	.	ENSG00000083750	ENST00000374941;ENST00000262850	T	0.66638	-0.22	4.34	2.58	0.30949	.	0.000000	0.46758	D	0.000276	T	0.60945	0.2308	N	0.19112	0.55	0.27220	N	0.959681	D;P	0.56035	0.974;0.956	D;P	0.67725	0.953;0.899	T	0.51795	-0.8660	10	0.15952	T	0.53	-14.203	5.9426	0.19201	0.2387:0.0:0.7613:0.0	.	7;7	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	D	7	ENSP00000364077:E7D	ENSP00000262850:E7D	E	+	3	2	RRAGB	55761506	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.198000	0.42705	0.586000	0.29626	0.600000	0.82982	GAG	RRAGB	-	NULL	ENSG00000083750		0.458	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGB	HGNC	protein_coding	OTTHUMT00000056878.1		0.00	27	0	G	NM_016656		55744781	+1			no_errors	ENST00000262850	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
RRS1	23212	genome.wustl.edu	37	8	67342324	67342324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:67342324delG	ENST00000320270.2	+	1	1062	c.958delG	c.(958-960)gggfs	p.G321fs	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000396623.3_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000415254.1_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	321	Arg/Gly/Lys-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCAGGGGCCTGGGGGCAAGAG	0.642																																																	0													19.0	25.0	23.0					8																	67342324		2201	4291	6492	SO:0001589	frameshift_variant	0			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.958delG	8.37:g.67342324delG	ENSP00000322396:p.Gly321fs		Q9BUX8	Frame_Shift_Del	DEL	pfam_Ribosom_reg	p.G321fs	ENST00000320270.2	37	c.958	CCDS6189.1	8																																																																																			RRS1	-	NULL	ENSG00000179041		0.642	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRS1	HGNC	protein_coding	OTTHUMT00000380126.1		0.00	9	0	G	NM_015169		67342324	+1	tier1		no_errors	ENST00000320270	ensembl	human	known	74_37	frame_shift_del	44.00	14	11	DEL	0.901	-
RXRA	6256	genome.wustl.edu	37	9	137321027	137321027	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:137321027C>T	ENST00000481739.1	+	7	1036	c.984C>T	c.(982-984)acC>acT	p.T328T	RXRA_ENST00000540193.1_Silent_p.T231T|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	328	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.T328T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TCCTGGCCACCGGGCTGCACG	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											75.0	73.0	74.0					9																	137321027		2203	4300	6503	SO:0001819	synonymous_variant	0			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.984C>T	9.37:g.137321027C>T			B3KY83|Q2NL52|Q2V504	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt	p.T328	ENST00000481739.1	37	c.984	CCDS35172.1	9																																																																																			RXRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4,prints_Retinoic_acid_rcpt	ENSG00000186350		0.687	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRA	HGNC	protein_coding	OTTHUMT00000054949.1	-	0.00	28	0	C	NM_002957		137321027	+1	tier1	-	no_errors	ENST00000481739	ensembl	human	known	74_37	silent	18.18	27	6	SNP	0.954	T
SCN5A	6331	genome.wustl.edu	37	3	38645355	38645355	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:38645355T>G	ENST00000333535.4	-	12	1887	c.1738A>C	c.(1738-1740)Acc>Ccc	p.T580P	SCN5A_ENST00000443581.1_Missense_Mutation_p.T580P|SCN5A_ENST00000425664.1_Missense_Mutation_p.T580P|SCN5A_ENST00000414099.2_Missense_Mutation_p.T580P|SCN5A_ENST00000449557.2_Missense_Mutation_p.T580P|SCN5A_ENST00000455624.2_Missense_Mutation_p.T580P|SCN5A_ENST00000423572.2_Missense_Mutation_p.T580P|SCN5A_ENST00000450102.2_Missense_Mutation_p.T580P|SCN5A_ENST00000413689.1_Missense_Mutation_p.T580P|SCN5A_ENST00000451551.2_Missense_Mutation_p.T580P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	580					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGCCGAGGTTCCGGGACTG	0.647																																																	0													71.0	77.0	75.0					3																	38645355		2019	4182	6201	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1738A>C	3.37:g.38645355T>G	ENSP00000328968:p.Thr580Pro		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.T580P	ENST00000333535.4	37	c.1738	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	3.152	-0.174091	0.06421	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	3.46	-0.489	0.12052	Domain of unknown function DUF3451 (1);	0.747484	0.12692	N	0.447085	T	0.78149	0.4238	N	0.10874	0.06	0.09310	N	1	P;B;B;B;B;B;B	0.37176	0.586;0.117;0.126;0.153;0.153;0.0;0.126	B;B;B;B;B;B;B	0.39094	0.163;0.193;0.191;0.29;0.14;0.005;0.086	T	0.69684	-0.5079	10	0.48119	T	0.1	.	3.6776	0.08298	0.3159:0.3587:0.0:0.3253	.	580;580;580;580;580;580;580	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	P	580	ENSP00000398962:T580P;ENSP00000398266:T580P;ENSP00000410257:T580P;ENSP00000388797:T580P;ENSP00000397915:T580P;ENSP00000416634:T580P;ENSP00000328968:T580P;ENSP00000399524:T580P;ENSP00000403355:T580P;ENSP00000413996:T580P	ENSP00000328968:T580P	T	-	1	0	SCN5A	38620359	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.584000	0.05800	0.017000	0.15025	0.459000	0.35465	ACC	SCN5A	-	pfam_DUF3451	ENSG00000183873		0.647	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0.00	39	0	T	NM_198056		38645355	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.012	G
SCN8A	6334	genome.wustl.edu	37	12	52156381	52156381	+	Missense_Mutation	SNP	G	G	T	rs368457455		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:52156381G>T	ENST00000354534.6	+	15	2643	c.2465G>T	c.(2464-2466)gGa>gTa	p.G822V	SCN8A_ENST00000545061.1_Missense_Mutation_p.G822V|SCN8A_ENST00000550891.1_Missense_Mutation_p.G822V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	822					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.G822E(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTTTTGACGGATTTATTGTC	0.413																																																	2	Substitution - Missense(2)	large_intestine(2)											159.0	158.0	159.0					12																	52156381		1892	4142	6034	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2465G>T	12.37:g.52156381G>T	ENSP00000346534:p.Gly822Val		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.G822V	ENST00000354534.6	37	c.2465	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529401	0.64860	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76	4.23	4.23	0.50019	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	L	0.33245	0.995	0.80722	D	1	D;D;D	0.69078	0.967;0.992;0.997	P;P;D	0.65987	0.854;0.876;0.94	D	0.98190	1.0462	10	0.51188	T	0.08	.	17.9135	0.88942	0.0:0.0:1.0:0.0	.	822;822;822	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	V	822;822;822;822;735	ENSP00000448415:G822V;ENSP00000346534:G822V;ENSP00000440360:G822V;ENSP00000347255:G822V	ENSP00000346534:G822V	G	+	2	0	SCN8A	50442648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.632000	0.89209	0.455000	0.32223	GGA	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.413	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3		0.00	28	0	G	NM_014191		52156381	+1			no_errors	ENST00000354534	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
SCNN1G	6340	genome.wustl.edu	37	16	23226040	23226040	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:23226040T>G	ENST00000300061.2	+	12	1644	c.1501T>G	c.(1501-1503)Ttg>Gtg	p.L501V	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	501					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAGGACAGACTTGGCCAAACT	0.512																																																	0													83.0	79.0	80.0					16																	23226040		2197	4300	6497	SO:0001583	missense	0			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1501T>G	16.37:g.23226040T>G	ENSP00000300061:p.Leu501Val		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.L501V	ENST00000300061.2	37	c.1501	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	T	8.219	0.802027	0.16397	.	.	ENSG00000166828	ENST00000300061	T	0.63096	-0.02	5.66	1.61	0.23674	.	0.000000	0.64402	D	0.000019	T	0.52581	0.1743	L	0.27053	0.805	0.36168	D	0.848547	D	0.53885	0.963	P	0.53035	0.716	T	0.53236	-0.8467	10	0.12430	T	0.62	-11.9469	9.2709	0.37670	0.0:0.4629:0.0:0.5371	.	501	P51170	SCNNG_HUMAN	V	501	ENSP00000300061:L501V	ENSP00000300061:L501V	L	+	1	2	SCNN1G	23133541	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.381000	0.20619	0.283000	0.22279	0.454000	0.30748	TTG	SCNN1G	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	ENSG00000166828		0.512	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	-	0.00	31	0	T	NM_001039		23226040	+1	tier1	-	no_errors	ENST00000300061	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.999	G
SDC1	6382	genome.wustl.edu	37	2	20423047	20423048	+	Intron	INS	-	-	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:20423047_20423048insA	ENST00000254351.4	-	1	311				SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000381150.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1						canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		ACTCTGTAAAGAAAAAAAAAAC	0.52																																																	0																																										SO:0001627	intron_variant	0			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.66+1514->T	2.37:g.20423057_20423057dupA			D6W523|Q53QV0|Q546D3|Q96HB7	RNA	INS	-	NULL	ENST00000254351.4	37	NULL	CCDS1697.1	2																																																																																			SDC1	-	-	ENSG00000115884		0.520	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC1	HGNC	protein_coding	OTTHUMT00000207495.1		0.00	60	0	-	NM_001006946		20423048	-1	tier1		no_errors	ENST00000482879	ensembl	human	known	74_37	rna	10.71	50	6	INS	0.001:0.002	A
SEC14L5	9717	genome.wustl.edu	37	16	5009357	5009357	+	Silent	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:5009357C>A	ENST00000251170.7	+	2	213	c.33C>A	c.(31-33)gtC>gtA	p.V11V		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	11	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CTGTCCGAGTCTACAAGTACC	0.582																																																	0													124.0	124.0	124.0					16																	5009357		2099	4236	6335	SO:0001819	synonymous_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.33C>A	16.37:g.5009357C>A				Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.V11	ENST00000251170.7	37	c.33	CCDS45403.1	16																																																																																			SEC14L5	-	pfscan_PRELI/MSF1	ENSG00000103184		0.582	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	-	0.00	88	0	C			5009357	+1	tier1	-	no_errors	ENST00000251170	ensembl	human	known	74_37	silent	64.29	25	45	SNP	0.988	A
SENP2	59343	genome.wustl.edu	37	3	185304241	185304241	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:185304241C>A	ENST00000296257.5	+	1	280	c.40C>A	c.(40-42)Cgt>Agt	p.R14S	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000545472.1_Intron|SENP2_ENST00000465201.1_Intron	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	14					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CACCATTTTCCGTTTCTGCGA	0.662																																																	0													100.0	102.0	101.0					3																	185304241		2203	4300	6503	SO:0001583	missense	0			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.40C>A	3.37:g.185304241C>A	ENSP00000296257:p.Arg14Ser		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.R14S	ENST00000296257.5	37	c.40	CCDS33902.1	3	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291193	0.59976	.	.	ENSG00000163904	ENST00000296257;ENST00000437107	T	0.29917	1.55	5.02	4.13	0.48395	.	0.000000	0.43747	D	0.000527	T	0.14657	0.0354	N	0.14661	0.345	0.80722	D	1	P	0.35401	0.499	B	0.32342	0.144	T	0.07481	-1.0770	10	0.14656	T	0.56	-10.4279	9.4715	0.38844	0.0:0.9019:0.0:0.0981	.	14	Q9HC62	SENP2_HUMAN	S	14	ENSP00000296257:R14S	ENSP00000296257:R14S	R	+	1	0	SENP2	186786935	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.601000	0.36773	2.605000	0.88082	0.655000	0.94253	CGT	SENP2	-	NULL	ENSG00000163904		0.662	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	-	0.00	88	0	C	NM_021627		185304241	+1	tier1	-	no_errors	ENST00000296257	ensembl	human	known	74_37	missense	18.78	147	34	SNP	1.000	A
SETX	23064	genome.wustl.edu	37	9	135209997	135209997	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:135209997T>A	ENST00000224140.5	-	7	1018	c.836A>T	c.(835-837)gAt>gTt	p.D279V	SETX_ENST00000372169.2_Missense_Mutation_p.D279V|SETX_ENST00000393220.1_Missense_Mutation_p.D279V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	279					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTATTACCATCTGCTTCCCT	0.383																																																	0													159.0	131.0	140.0					9																	135209997		2203	4300	6503	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.836A>T	9.37:g.135209997T>A	ENSP00000224140:p.Asp279Val		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.D279V	ENST00000224140.5	37	c.836	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444530	0.63178	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.62788	0.0;0.0;0.0	5.91	5.91	0.95273	.	0.338981	0.29715	N	0.011398	T	0.52996	0.1769	L	0.27053	0.805	0.42943	D	0.994353	D	0.54397	0.966	P	0.44860	0.462	T	0.60089	-0.7331	10	0.72032	D	0.01	.	12.6548	0.56782	0.0:0.0:0.1374:0.8626	.	279	Q7Z333	SETX_HUMAN	V	279	ENSP00000224140:D279V;ENSP00000361242:D279V;ENSP00000376913:D279V	ENSP00000224140:D279V	D	-	2	0	SETX	134199818	1.000000	0.71417	0.711000	0.30485	0.652000	0.38707	4.310000	0.59141	2.263000	0.75096	0.377000	0.23210	GAT	SETX	-	NULL	ENSG00000107290		0.383	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	-	0.00	50	0	T	NM_015046		135209997	-1	tier1	-	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	32.89	51	25	SNP	0.616	A
SGK223	157285	genome.wustl.edu	37	8	8235035	8235035	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:8235035G>A	ENST00000520004.1	-	3	1148	c.884C>T	c.(883-885)tCc>tTc	p.S295F	SGK223_ENST00000330777.4_Missense_Mutation_p.S295F			Q86YV5	SG223_HUMAN		295							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGCGGGCCCGGAACACTTCCC	0.687																																					GBM(34;731 755 10259 33573 33867)												0													15.0	20.0	18.0					8																	8235035		1957	4118	6075	SO:0001583	missense	0																														ENST00000520004.1:c.884C>T	8.37:g.8235035G>A	ENSP00000428054:p.Ser295Phe		Q8N3N5	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,pfscan_Prot_kinase_dom	p.S295F	ENST00000520004.1	37	c.884	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	4.510	0.094540	0.08632	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57595	0.39;0.39	5.02	4.13	0.48395	.	0.694506	0.12395	N	0.472621	T	0.31040	0.0784	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.15954	-1.0419	10	0.52906	T	0.07	.	6.8047	0.23770	0.0995:0.1819:0.7186:0.0	.	295	Q86YV5	SG223_HUMAN	F	295	ENSP00000330930:S295F;ENSP00000428054:S295F	ENSP00000330930:S295F	S	-	2	0	AC068353.1	8272445	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.316000	0.19469	1.210000	0.43336	0.655000	0.94253	TCC	SGK223	-	NULL	ENSG00000182319		0.687	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_gn	protein_coding	OTTHUMT00000374864.1	-	0.00	24	0	G			8235035	-1	tier1	-	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.001	A
SGK3	23678	genome.wustl.edu	37	8	67748200	67748200	+	Missense_Mutation	SNP	G	G	A	rs550671159		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:67748200G>A	ENST00000396596.1	+	10	846	c.632G>A	c.(631-633)cGt>cAt	p.R211H	SGK3_ENST00000521198.2_Missense_Mutation_p.R211H|SGK3_ENST00000522398.1_Missense_Mutation_p.R211H|SGK3_ENST00000345714.4_Missense_Mutation_p.R211H|SGK3_ENST00000520976.1_Missense_Mutation_p.R211H|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.R211H	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATGGCTGAACGTAATGTGCTC	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		18261	0.001		0.0	False		,,,				2504	0.0																0													121.0	121.0	121.0					8																	67748200		2202	4298	6500	SO:0001583	missense	0				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.632G>A	8.37:g.67748200G>A	ENSP00000379842:p.Arg211His		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom	p.R211H	ENST00000396596.1	37	c.632	CCDS6195.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.688637	0.96784	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396;ENST00000521152	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097739	0.64402	D	0.000001	T	0.80221	0.4583	M	0.90977	3.165	0.43471	D	0.995687	D;P	0.56035	0.974;0.905	P;P	0.52454	0.697;0.699	D	0.84676	0.0714	9	0.87932	D	0	.	19.9659	0.97266	0.0:0.0:1.0:0.0	.	211;211	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	H	211;211;211;211;211;211;211;93;108	ENSP00000429022:R211H;ENSP00000430463:R211H;ENSP00000430256:R211H;ENSP00000430691:R211H;ENSP00000379842:R211H;ENSP00000331816:R211H;ENSP00000428529:R93H;ENSP00000429565:R108H	ENSP00000262211:R211H	R	+	2	0	SGK3	67910754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.719000	0.93026	0.650000	0.86243	CGT	SGK3	-	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	ENSG00000104205		0.323	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	-	0.00	37	0	G			67748200	+1	tier1	-	no_errors	ENST00000345714	ensembl	human	known	74_37	missense	44.64	31	25	SNP	1.000	A
SHROOM2	357	genome.wustl.edu	37	X	9912763	9912763	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:9912763A>T	ENST00000380913.3	+	9	4484	c.4394A>T	c.(4393-4395)aAc>aTc	p.N1465I	SHROOM2_ENST00000418909.2_Missense_Mutation_p.N300I	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1465	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GTGCAGGCCAACACCGTGCTG	0.632																																																	0													55.0	46.0	49.0					X																	9912763		2203	4300	6503	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4394A>T	X.37:g.9912763A>T	ENSP00000370299:p.Asn1465Ile		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N1465I	ENST00000380913.3	37	c.4394	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	a	25.8	4.678946	0.88542	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.36340	1.26;1.26;1.26	5.31	5.31	0.75309	Apx/shroom, ASD2 (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.73442	-0.3981	10	0.72032	D	0.01	-66.7868	14.4637	0.67470	1.0:0.0:0.0:0.0	.	299;1465	Q68DU3;Q13796	.;SHRM2_HUMAN	I	1465;300;300;300	ENSP00000370299:N1465I;ENSP00000415229:N300I;ENSP00000406724:N300I	ENSP00000370299:N1465I	N	+	2	0	SHROOM2	9872763	1.000000	0.71417	0.975000	0.42487	0.836000	0.47400	8.712000	0.91403	1.796000	0.52611	0.483000	0.47432	AAC	SHROOM2	-	pfam_ASD2	ENSG00000146950		0.632	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0.00	31	0	A	NM_001649		9912763	+1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	85.71	6	36	SNP	1.000	T
SIM1	6492	genome.wustl.edu	37	6	100841708	100841708	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:100841708T>G	ENST00000369208.3	-	11	2007	c.1225A>C	c.(1225-1227)Agt>Cgt	p.S409R	SIM1_ENST00000262901.4_Missense_Mutation_p.S409R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	409	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCAAGGGACTTCCGCCCCAC	0.552																																																	0													40.0	39.0	39.0					6																	100841708		2203	4300	6503	SO:0001583	missense	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1225A>C	6.37:g.100841708T>G	ENSP00000358210:p.Ser409Arg		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.S409R	ENST00000369208.3	37	c.1225	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	T	32	5.129139	0.94473	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.42131	0.98;0.98	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.41016	-0.9532	10	0.42905	T	0.14	.	16.1062	0.81223	0.0:0.0:0.0:1.0	.	409	P81133	SIM1_HUMAN	R	409	ENSP00000358210:S409R;ENSP00000262901:S409R	ENSP00000262901:S409R	S	-	1	0	SIM1	100948429	1.000000	0.71417	0.923000	0.36655	0.991000	0.79684	7.698000	0.84413	2.205000	0.71048	0.533000	0.62120	AGT	SIM1	-	pfam_SIM_C	ENSG00000112246		0.552	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	-	0.00	8	0	T	NM_005068		100841708	-1	tier1	-	no_errors	ENST00000262901	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.998	G
SLA	6503	genome.wustl.edu	37	8	134063088	134063088	+	Missense_Mutation	SNP	C	C	T	rs572664813		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:134063088C>T	ENST00000338087.5	-	4	953	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000395352.3_Missense_Mutation_p.R62Q|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.R85Q|TG_ENST00000519543.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.R62Q	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	45	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.R85P(1)|p.R45P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTTCTCCCCTCGGCGGAATAT	0.502																																																	2	Substitution - Missense(2)	lung(2)											62.0	64.0	63.0					8																	134063088		2203	4300	6503	SO:0001583	missense	0				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.134G>A	8.37:g.134063088C>T	ENSP00000337548:p.Arg45Gln		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.R85Q	ENST00000338087.5	37	c.254	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379571	0.42207	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119;ENST00000519341;ENST00000521302	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.42	4.55	0.56014	Src homology-3 domain (4);	0.283692	0.39020	N	0.001498	T	0.29749	0.0743	N	0.17872	0.535	0.09310	N	1	B;B;B;B;B;B	0.23442	0.085;0.049;0.049;0.001;0.0;0.049	B;B;B;B;B;B	0.12837	0.008;0.005;0.005;0.003;0.002;0.005	T	0.19549	-1.0302	10	0.59425	D	0.04	-4.4157	7.2088	0.25921	0.1686:0.7451:0.0:0.0864	.	62;45;45;45;45;45	B7Z4J2;Q6FI01;Q5TZW1;E5RHT2;E5RJ69;Q13239	.;.;.;.;.;SLAP1_HUMAN	Q	45;85;62;62;45;45;45	ENSP00000337548:R45Q;ENSP00000394049:R85Q;ENSP00000378759:R62Q;ENSP00000428559:R62Q;ENSP00000430596:R45Q;ENSP00000429681:R45Q;ENSP00000430184:R45Q	ENSP00000337548:R45Q	R	-	2	0	SLA	134132270	0.000000	0.05858	0.174000	0.22961	0.520000	0.34377	1.274000	0.33132	1.440000	0.47531	0.650000	0.86243	CGA	SLA	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000155926		0.502	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	HGNC	protein_coding	OTTHUMT00000378771.1	-	0.00	33	0	C			134063088	-1	tier1	-	no_errors	ENST00000427060	ensembl	human	known	74_37	missense	34.55	36	19	SNP	0.019	T
SLC12A2	6558	genome.wustl.edu	37	5	127514328	127514328	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:127514328A>T	ENST00000262461.2	+	22	3236	c.3047A>T	c.(3046-3048)cAg>cTg	p.Q1016L	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.Q1000L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1016					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ACACAGTTTCAGAAAAAACAA	0.313																																																	0													81.0	85.0	83.0					5																	127514328		2203	4300	6503	SO:0001583	missense	0				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3047A>T	5.37:g.127514328A>T	ENSP00000262461:p.Gln1016Leu		Q8N713|Q8WWH7	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.Q1016L	ENST00000262461.2	37	c.3047	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628820	0.67015	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.88896	-2.44;-2.44	5.19	5.19	0.71726	.	0.116179	0.64402	D	0.000011	D	0.91078	0.7192	M	0.90019	3.08	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.13407	0.009;0.006	D	0.89734	0.3928	10	0.87932	D	0	.	15.5124	0.75793	1.0:0.0:0.0:0.0	.	1000;1016	P55011-3;P55011	.;S12A2_HUMAN	L	1016;1000	ENSP00000262461:Q1016L;ENSP00000340878:Q1000L	ENSP00000262461:Q1016L	Q	+	2	0	SLC12A2	127542227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.020000	0.93667	2.311000	0.77944	0.533000	0.62120	CAG	SLC12A2	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000064651		0.313	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	-	0.00	33	0	A	NM_001046		127514328	+1	tier1	-	no_errors	ENST00000262461	ensembl	human	known	74_37	missense	69.23	8	18	SNP	1.000	T
SLC13A3	64849	genome.wustl.edu	37	20	45212106	45212106	+	Intron	SNP	A	A	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr20:45212106A>T	ENST00000279027.4	-	9	1238				SLC13A3_ENST00000472148.1_Intron|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000435032.1_Intron|SLC13A3_ENST00000495082.1_Intron|SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000290317.5_Intron	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGAAGCAGGAAGGACCACGTG	0.602																																																	0																																										SO:0001627	intron_variant	0			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1219+104T>A	20.37:g.45212106A>T			B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	RNA	SNP	-	NULL	ENST00000279027.4	37	NULL	CCDS13400.1	20																																																																																			SLC13A3	-	-	ENSG00000158296		0.602	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	-	0.00	24	0	A			45212106	-1	tier1	-	no_errors	ENST00000464518	ensembl	human	known	74_37	rna	77.78	8	28	SNP	0.000	T
SLC29A4	222962	genome.wustl.edu	37	7	5330775	5330775	+	Missense_Mutation	SNP	A	A	G	rs149798710		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:5330775A>G	ENST00000396872.3	+	4	483	c.322A>G	c.(322-324)Atg>Gtg	p.M108V	SLC29A4_ENST00000406453.3_Missense_Mutation_p.M108V|SLC29A4_ENST00000297195.4_Missense_Mutation_p.M108V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	108					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CGTGTTTGACATGAGCCTCAC	0.617																																																	0								A	VAL/MET,VAL/MET	0,4406		0,0,2203	101.0	86.0	91.0		322,322	3.3	1.0	7	dbSNP_134	91	1,8599		0,1,4299	no	missense,missense	SLC29A4	NM_001040661.1,NM_153247.2	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	108/531,108/531	5330775	1,13005	2203	4300	6503	SO:0001583	missense	0			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.322A>G	7.37:g.5330775A>G	ENSP00000380081:p.Met108Val		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.M108V	ENST00000396872.3	37	c.322	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	17.09	3.301308	0.60195	0.0	1.16E-4	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.5	3.29	0.37713	Major facilitator superfamily domain, general substrate transporter (1);	0.090555	0.85682	D	0.000000	T	0.34774	0.0909	M	0.80183	2.485	0.50813	D	0.999894	P;P	0.46859	0.885;0.848	B;B	0.40702	0.31;0.338	T	0.22871	-1.0204	10	0.59425	D	0.04	-12.217	9.4134	0.38505	0.8201:0.1799:0.0:0.0	.	108;108	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	V	108	ENSP00000406803:M108V;ENSP00000380081:M108V;ENSP00000413271:M108V;ENSP00000297195:M108V;ENSP00000385845:M108V	ENSP00000297195:M108V	M	+	1	0	SLC29A4	5297301	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.035000	0.49759	0.554000	0.29061	0.454000	0.30748	ATG	SLC29A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000164638		0.617	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	-	0.00	51	0	A	NM_153247		5330775	+1	tier1	rs149798710	no_errors	ENST00000297195	ensembl	human	known	74_37	missense	13.33	65	10	SNP	1.000	G
SLC2A9	56606	genome.wustl.edu	37	4	10027510	10027510	+	Intron	DEL	A	A	-	rs61256984	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr4:10027510delA	ENST00000506583.1	-	3	281				SLC2A9_ENST00000309065.3_Intron			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9						glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AGGGAGACAGAAAAAAAAAAG	0.458													|||unknown(HR)	1369	0.273363	0.5582	0.2205	5008	,	,		19181	0.0992		0.2992	False		,,,				2504	0.0787																0													54.0	72.0	66.0					4																	10027510		2201	4297	6498	SO:0001627	intron_variant	0			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.63+17T>-	4.37:g.10027510delA			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	RNA	DEL	-	NULL	ENST00000506583.1	37	NULL	CCDS3406.1	4																																																																																			SLC2A9	-	-	ENSG00000109667		0.458	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207054.2		0.00	43	0	A			10027510	-1	tier1		no_errors	ENST00000509214	ensembl	human	known	74_37	rna	10.34	26	3	DEL	0.000	-
SLC35F5	80255	genome.wustl.edu	37	2	114512764	114512764	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:114512764A>G	ENST00000245680.2	-	3	664	c.251T>C	c.(250-252)gTt>gCt	p.V84A	SLC35F5_ENST00000409342.1_Missense_Mutation_p.V78A	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	84					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGAGGAAGCAACCCATATCAC	0.428																																																	0													83.0	79.0	81.0					2																	114512764		2203	4300	6503	SO:0001583	missense	0			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.251T>C	2.37:g.114512764A>G	ENSP00000245680:p.Val84Ala		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	pfam_DMT	p.V84A	ENST00000245680.2	37	c.251	CCDS2119.1	2	.	.	.	.	.	.	.	.	.	.	A	33	5.269849	0.95429	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.56611	0.45;0.45	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.65320	2	0.58432	D	0.999998	D;D;D	0.89917	0.997;1.0;0.984	D;D;D	0.76575	0.978;0.988;0.956	T	0.71745	-0.4500	10	0.66056	D	0.02	-15.5064	13.9127	0.63878	1.0:0.0:0.0:0.0	.	84;78;84	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	A	84;78;78	ENSP00000245680:V84A;ENSP00000386754:V78A	ENSP00000245680:V84A	V	-	2	0	SLC35F5	114229234	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.141000	0.89618	2.209000	0.71365	0.533000	0.62120	GTT	SLC35F5	-	NULL	ENSG00000115084		0.428	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F5	HGNC	protein_coding	OTTHUMT00000254150.1		0.00	15	0	A	NM_025181		114512764	-1			no_errors	ENST00000245680	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.998	G
SLC5A12	159963	genome.wustl.edu	37	11	26743234	26743234	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:26743234C>A	ENST00000396005.3	-	1	337	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	SLC5A12_ENST00000280467.6_Missense_Mutation_p.D10Y	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	10					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.D10N(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACAACATAATCCCAAACTGCA	0.418																																																	2	Substitution - Missense(2)	lung(2)											88.0	90.0	90.0					11																	26743234		2203	4299	6502	SO:0001583	missense	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.28G>T	11.37:g.26743234C>A	ENSP00000379326:p.Asp10Tyr		Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.D10Y	ENST00000396005.3	37	c.28	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438104	0.83885	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.91631	-2.88;-2.22	5.59	5.59	0.84812	.	0.058073	0.64402	D	0.000004	D	0.97523	0.9189	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98314	1.0525	10	0.87932	D	0	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	10;10	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	Y	10	ENSP00000379326:D10Y;ENSP00000280467:D10Y	ENSP00000280467:D10Y	D	-	1	0	SLC5A12	26699810	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.782000	0.85680	2.643000	0.89663	0.585000	0.79938	GAT	SLC5A12	-	pfscan_Na/solute_symporter	ENSG00000148942		0.418	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	-	0.00	10	0	C	NM_178498		26743234	-1	tier1	-	no_errors	ENST00000396005	ensembl	human	known	74_37	missense	100.00	0	6	SNP	1.000	A
SLC7A14	57709	genome.wustl.edu	37	3	170198216	170198216	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:170198216G>T	ENST00000231706.5	-	7	2170	c.1855C>A	c.(1855-1857)Cca>Aca	p.P619T	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	619					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGGTTCTCTGGCTGCTGCAGG	0.547																																																	0													99.0	102.0	101.0					3																	170198216		2203	4300	6503	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1855C>A	3.37:g.170198216G>T	ENSP00000231706:p.Pro619Thr		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.P619T	ENST00000231706.5	37	c.1855	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287575	0.80803	.	.	ENSG00000013293	ENST00000231706	D	0.90788	-2.73	5.6	5.6	0.85130	.	0.047191	0.85682	D	0.000000	D	0.95284	0.8470	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94685	0.7869	10	0.49607	T	0.09	.	19.6071	0.95585	0.0:0.0:1.0:0.0	.	619	Q8TBB6	S7A14_HUMAN	T	619	ENSP00000231706:P619T	ENSP00000231706:P619T	P	-	1	0	SLC7A14	171680910	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.627000	0.88993	0.655000	0.94253	CCA	SLC7A14	-	NULL	ENSG00000013293		0.547	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	-	0.00	35	0	G	NM_020949		170198216	-1	tier1	-	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	T
SMAD4	4089	genome.wustl.edu	37	18	48593406	48593406	+	Missense_Mutation	SNP	G	G	T	rs121912580		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr18:48593406G>T	ENST00000342988.3	+	10	1695	c.1157G>T	c.(1156-1158)gGt>gTt	p.G386V	SMAD4_ENST00000398417.2_Missense_Mutation_p.G386V|SMAD4_ENST00000588745.1_Missense_Mutation_p.G290V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	386	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		G -> D (in JP/HHT; dbSNP:rs28936393). {ECO:0000269|PubMed:15031030}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATAGGCAAAGGTGTGCAGTTG	0.368																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	GRCh37	CM021284	SMAD4	M	rs121912580						202.0	166.0	178.0					18																	48593406		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1157G>T	18.37:g.48593406G>T	ENSP00000341551:p.Gly386Val		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.G386V	ENST00000342988.3	37	c.1157	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723725	0.89298	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.99873	-7.38;-7.38	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.046058	0.85682	D	0.000000	D	0.99910	0.9957	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96369	0.9272	10	0.87932	D	0	.	18.5072	0.90901	0.0:0.0:1.0:0.0	.	386	Q13485	SMAD4_HUMAN	V	386	ENSP00000341551:G386V;ENSP00000381452:G386V	ENSP00000341551:G386V	G	+	2	0	SMAD4	46847404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.662000	0.90505	0.563000	0.77884	GGT	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.368	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0.00	28	0	G	NM_005359		48593406	+1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	T
RPL30	6156	genome.wustl.edu	37	8	99054836	99054837	+	Intron	INS	-	-	AAA	rs3073528|rs143116921|rs56899568		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:99054836_99054837insAAA	ENST00000521291.1	-	3	445				RPL30_ENST00000287038.3_Intron|RPL30_ENST00000396070.2_Intron|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000523172.1_Intron|RPL30_ENST00000518164.1_Intron|SNORA72_ENST00000384339.1_RNA			P62888	RL30_HUMAN	ribosomal protein L30						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			ATTAGAAAGGCAAAAAAAAAAA	0.361																																																	0																																										SO:0001627	intron_variant	0				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"""L ribosomal proteins"""	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.298+35->TTT	8.37:g.99054843_99054845dupAAA			B2R591|P04645|Q502Z6	RNA	INS	-	NULL	ENST00000521291.1	37	NULL	CCDS34928.1	8																																																																																			KB-1208A12.3	-	-	ENSG00000245970		0.361	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNORA72	Clone_based_vega_gene	protein_coding	OTTHUMT00000380450.1		0.00	21	0	-			99054837	+1	tier1		no_errors	ENST00000501016	ensembl	human	known	74_37	rna	18.52	22	5	INS	0.001:0.049	AAA
SPTB	6710	genome.wustl.edu	37	14	65253541	65253541	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:65253541G>T	ENST00000389721.5	-	15	3174	c.3142C>A	c.(3142-3144)Caa>Aaa	p.Q1048K	SPTB_ENST00000556626.1_Missense_Mutation_p.Q1048K|SPTB_ENST00000389720.3_Missense_Mutation_p.Q1048K|SPTB_ENST00000389722.3_Missense_Mutation_p.Q1048K|SPTB_ENST00000542895.1_Missense_Mutation_p.Q1048K	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1048					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCAGGGATTGCTGCAGGCCC	0.612																																																	0													53.0	58.0	56.0					14																	65253541		2203	4300	6503	SO:0001583	missense	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3142C>A	14.37:g.65253541G>T	ENSP00000374371:p.Gln1048Lys		Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q1048K	ENST00000389721.5	37	c.3142	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	G	0.151	-1.091508	0.01858	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.89	1.59	0.23543	.	0.848692	0.10614	N	0.654166	T	0.22282	0.0537	N	0.04768	-0.165	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.21724	-1.0237	10	0.06891	T	0.86	.	8.9814	0.35968	0.0:0.5644:0.2258:0.2098	.	1048;1052	P11277;Q59FP5	SPTB1_HUMAN;.	K	1052;1048;1048;1048;1048;1048	ENSP00000374372:Q1048K;ENSP00000451752:Q1048K;ENSP00000374371:Q1048K;ENSP00000443882:Q1048K;ENSP00000374370:Q1048K	ENSP00000374370:Q1048K	Q	-	1	0	SPTB	64323294	0.000000	0.05858	0.831000	0.32960	0.685000	0.39939	-1.112000	0.03299	0.558000	0.29135	0.549000	0.68633	CAA	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	-	0.00	15	0	G			65253541	-1	tier1	-	no_errors	ENST00000389722	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.505	T
STARD13	90627	genome.wustl.edu	37	13	33685942	33685942	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:33685942C>T	ENST00000336934.5	-	10	2696	c.2580G>A	c.(2578-2580)atG>atA	p.M860I	STARD13_ENST00000255486.4_Missense_Mutation_p.M852I|STARD13_ENST00000399365.3_Missense_Mutation_p.M742I	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	860	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATTCCATGATCATGTGCGCTA	0.488																																																	0													157.0	129.0	139.0					13																	33685942		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2580G>A	13.37:g.33685942C>T	ENSP00000338785:p.Met860Ile		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.M860I	ENST00000336934.5	37	c.2580	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.480943	0.96307	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.12147	2.71;2.75;2.76	5.61	5.61	0.85477	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.89414	3.03	0.80722	D	1	D;D;P	0.67145	0.996;0.974;0.955	D;P;P	0.71870	0.975;0.882;0.826	T	0.52290	-0.8595	10	0.72032	D	0.01	.	20.0051	0.97433	0.0:1.0:0.0:0.0	.	825;860;852	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	I	742;852;860	ENSP00000382300:M742I;ENSP00000255486:M852I;ENSP00000338785:M860I	ENSP00000255486:M852I	M	-	3	0	STARD13	32583942	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.681000	0.84073	2.799000	0.96334	0.650000	0.86243	ATG	STARD13	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000133121		0.488	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0.00	45	0	C	NM_001243466		33685942	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	12.16	65	9	SNP	1.000	T
STX5	6811	genome.wustl.edu	37	11	62591960	62591960	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:62591960T>G	ENST00000294179.3	-	9	910	c.757A>C	c.(757-759)Agc>Cgc	p.S253R	STX5_ENST00000377897.4_Missense_Mutation_p.S253R|STX5_ENST00000394690.1_Missense_Mutation_p.S199R|STX5_ENST00000541317.1_Missense_Mutation_p.S157R	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	253					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						AGCTGCTGGCTGGTCCGAGAG	0.567																																																	0													103.0	99.0	100.0					11																	62591960		2201	4299	6500	SO:0001583	missense	0			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.757A>C	11.37:g.62591960T>G	ENSP00000294179:p.Ser253Arg		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.S253R	ENST00000294179.3	37	c.757	CCDS8038.2	11	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461385	0.43736	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.56	5.56	0.83823	t-SNARE (1);	0.338711	0.37577	N	0.002022	T	0.21509	0.0518	L	0.57536	1.79	0.54753	D	0.999984	B;B	0.30542	0.284;0.187	B;B	0.30105	0.111;0.021	T	0.03957	-1.0989	10	0.13853	T	0.58	-16.8687	13.6653	0.62391	0.0:0.0:0.0:1.0	.	253;253	F8W8Q9;Q13190	.;STX5_HUMAN	R	253;253;199;157	ENSP00000367129:S253R;ENSP00000294179:S253R;ENSP00000378182:S199R;ENSP00000441428:S157R	ENSP00000294179:S253R	S	-	1	0	STX5	62348536	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.614000	0.82996	2.120000	0.65058	0.459000	0.35465	AGC	STX5	-	superfamily_t-SNARE	ENSG00000162236		0.567	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX5	HGNC	protein_coding	OTTHUMT00000290113.1	-	0.00	48	0	T	NM_003164		62591960	-1	tier1	-	no_errors	ENST00000294179	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	G
SULF1	23213	genome.wustl.edu	37	8	70571058	70571058	+	3'UTR	SNP	A	A	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:70571058A>C	ENST00000260128.4	+	0	3621				SULF1_ENST00000402687.4_3'UTR|SULF1_ENST00000458141.2_3'UTR|SULF1_ENST00000419716.3_3'UTR|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1						apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCAAGGCATAAGGTTGGGAAA	0.473																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.*288A>C	8.37:g.70571058A>C			Q86YV8|Q8NCA2|Q9UPS5	RNA	SNP	-	NULL	ENST00000260128.4	37	NULL	CCDS6204.1	8																																																																																			SULF1	-	-	ENSG00000137573		0.473	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0.00	23	0	A	NM_015170		70571058	+1	tier1	-	no_errors	ENST00000521946	ensembl	human	known	74_37	rna	14.81	23	4	SNP	0.000	C
SYNGAP1	8831	genome.wustl.edu	37	6	33409093	33409093	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:33409093G>A	ENST00000418600.2	+	12	2158	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.G627D|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.G686D|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	686					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ATCGACTTGGGCCGAGAGCTC	0.557																																																	0													123.0	101.0	108.0					6																	33409093		2203	4300	6503	SO:0001583	missense	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2057G>A	6.37:g.33409093G>A	ENSP00000403636:p.Gly686Asp		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.G686D	ENST00000418600.2	37	c.2057	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871994	0.91587	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17691	2.26;2.26;2.26	4.94	4.94	0.65067	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	T	0.52793	-0.8528	10	0.87932	D	0	.	15.7048	0.77569	0.0:0.0:1.0:0.0	.	686;686;686	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	D	686;686;686;627	ENSP00000293748:G686D;ENSP00000403636:G686D;ENSP00000412475:G627D	ENSP00000293748:G686D	G	+	2	0	SYNGAP1	33517071	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.657000	0.98554	2.573000	0.86826	0.655000	0.94253	GGC	SYNGAP1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000197283		0.557	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4		0.00	46	0	G	XM_166407		33409093	+1			no_errors	ENST00000418600	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A
TAC4	255061	genome.wustl.edu	37	17	47917252	47917252	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:47917252C>T	ENST00000334568.4	-	4	269	c.270G>A	c.(268-270)acG>acA	p.T90T	TAC4_ENST00000326219.5_Intron|TAC4_ENST00000352793.2_Intron|TAC4_ENST00000398154.1_Silent_p.T73T|TAC4_ENST00000436235.1_Silent_p.T84T	NM_170685.2	NP_733786.2			tachykinin 4 (hemokinin)											breast(1)|large_intestine(1)|lung(3)	5						GGCCCTGGAACGTGTGTTCCA	0.552																																																	0													57.0	56.0	56.0					17																	47917252		1932	4132	6064	SO:0001819	synonymous_variant	0			AF521560	CCDS42357.1, CCDS42358.1, CCDS42359.1, CCDS42360.1, CCDS45727.1	17q21.33	2014-01-30			ENSG00000176358	ENSG00000176358		"""Endogenous ligands"""	16641	protein-coding gene	gene with protein product		607833				11062498, 12383518	Standard	NM_170685		Approved	HK-1, Pptc, PPT-C	uc002ipp.1	Q86UU9	OTTHUMG00000161830	ENST00000334568.4:c.270G>A	17.37:g.47917252C>T				Silent	SNP	NULL	p.T90	ENST00000334568.4	37	c.270	CCDS42357.1	17																																																																																			TAC4	-	NULL	ENSG00000176358		0.552	TAC4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAC4	HGNC	protein_coding	OTTHUMT00000366198.1	-	0.00	52	0	C	NM_170685		47917252	-1	tier1	-	no_errors	ENST00000334568	ensembl	human	known	74_37	silent	22.06	53	15	SNP	0.000	T
TAF5L	27097	genome.wustl.edu	37	1	229738643	229738643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:229738643C>A	ENST00000366676.1	-	3	270	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	TAF5L_ENST00000366675.3_Nonsense_Mutation_p.E91*|TAF5L_ENST00000258281.2_Nonsense_Mutation_p.E91*			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	91					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGCATCACTTCGTGGCTATGC	0.443																																																	0													47.0	47.0	47.0					1																	229738643		2203	4300	6503	SO:0001587	stop_gained	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.271G>T	1.37:g.229738643C>A	ENSP00000355636:p.Glu91*		Q5TDI5|Q5TDI6|Q8IW31	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E91*	ENST00000366676.1	37	c.271	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.206761	0.97376	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.2957	19.6643	0.95887	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	.	E	-	1	0	TAF5L	227805266	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.994000	0.76251	2.642000	0.89623	0.655000	0.94253	GAA	TAF5L	-	pfam_TFIID-su_WD40-assoc_reg	ENSG00000135801		0.443	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	-	0.00	66	0	C	NM_014409		229738643	-1	tier1	-	no_errors	ENST00000258281	ensembl	human	known	74_37	nonsense	17.74	51	11	SNP	1.000	A
NPFF	8620	genome.wustl.edu	37	12	53898440	53898440	+	IGR	DEL	T	T	-			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:53898440delT	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Intron|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Intron|TARBP2_ENST00000266987.2_Intron	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						GTGAGAAGCCTTTTTTCACTC	0.602																																																	0													77.0	78.0	78.0					12																	53898440		2203	4300	6503	SO:0001628	intergenic_variant	0			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898440delT			Q3SXL4	Frame_Shift_Del	DEL	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.F161fs	ENST00000267017.3	37	c.477	CCDS8862.1	12																																																																																			TARBP2	-	NULL	ENSG00000139546		0.602	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARBP2	HGNC	protein_coding	OTTHUMT00000406301.1		0.00	20	0	T	NM_003717		53898440	+1	tier1		no_errors	ENST00000549572	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.000	-
TBR1	10716	genome.wustl.edu	37	2	162275468	162275468	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:162275468C>T	ENST00000389554.3	+	4	1352	c.1035C>T	c.(1033-1035)gaC>gaT	p.D345D	TBR1_ENST00000410035.1_Silent_p.D58D	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	345					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TGAACGAGGACGGCACGGAGG	0.612																																																	0													96.0	95.0	95.0					2																	162275468		2203	4300	6503	SO:0001819	synonymous_variant	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1035C>T	2.37:g.162275468C>T			B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.D345	ENST00000389554.3	37	c.1035	CCDS33310.1	2																																																																																			TBR1	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000136535		0.612	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	-	0.00	40	0	C	NM_006593		162275468	+1	tier1	-	no_errors	ENST00000389554	ensembl	human	known	74_37	silent	11.86	52	7	SNP	0.973	T
TBX3	6926	genome.wustl.edu	37	12	115112602	115112602	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:115112602C>T	ENST00000257566.3	-	7	1527	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	TBX3_ENST00000349155.2_Missense_Mutation_p.E360K	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	380					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TCTTTGCTCTCGGCCTCGGCG	0.622																																																	0			GRCh37	CM994611	TBX3	M							10.0	11.0	11.0					12																	115112602		2187	4260	6447	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1138G>A	12.37:g.115112602C>T	ENSP00000257566:p.Glu380Lys		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E380K	ENST00000257566.3	37	c.1138	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988475	0.74589	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87887	-2.31;-2.3	4.72	4.72	0.59763	Transcription factor, T-box, region of unknown function (1);	0.376195	0.32055	N	0.006654	T	0.60301	0.2258	N	0.00230	-1.795	0.80722	D	1	P;P	0.48503	0.891;0.911	B;B	0.38378	0.178;0.272	T	0.72523	-0.4267	10	0.17369	T	0.5	.	16.8583	0.86011	0.0:1.0:0.0:0.0	.	360;380	O15119-2;O15119	.;TBX3_HUMAN	K	360;380;380	ENSP00000257567:E360K;ENSP00000257566:E380K	ENSP00000257566:E380K	E	-	1	0	TBX3	113596985	1.000000	0.71417	0.461000	0.27105	0.966000	0.64601	7.027000	0.76463	2.441000	0.82636	0.655000	0.94253	GAG	TBX3	-	pfam_TBX	ENSG00000135111		0.622	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	-	0.00	30	0	C	NM_016569, NM_005996		115112602	-1	tier1	-	no_errors	ENST00000257566	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.996	T
TIGD7	91151	genome.wustl.edu	37	16	3350367	3350367	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:3350367G>A	ENST00000396862.1	-	2	2076	c.248C>T	c.(247-249)gCg>gTg	p.A83V	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.A83V	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	83	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A83V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CATGTAGACCGCATCATCTAC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											159.0	152.0	154.0					16																	3350367		2197	4300	6497	SO:0001583	missense	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.248C>T	16.37:g.3350367G>A	ENSP00000380071:p.Ala83Val		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.A83V	ENST00000396862.1	37	c.248	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365975	0.41902	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.36157	1.27;1.27	4.38	4.38	0.52667	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.35646	U	0.003075	T	0.46386	0.1390	L	0.43646	1.37	0.32140	N	0.585616	D	0.89917	1.0	D	0.85130	0.997	T	0.40478	-0.9561	10	0.10902	T	0.67	.	12.3228	0.54993	0.0:0.0:1.0:0.0	.	83	Q6NT04	TIGD7_HUMAN	V	83	ENSP00000380071:A83V;ENSP00000268674:A83V	ENSP00000268674:A83V	A	-	2	0	TIGD7	3290368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.166000	0.58203	2.283000	0.76528	0.655000	0.94253	GCG	TIGD7	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000140993		0.502	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1		0.00	29	0	G	NM_033208		3350367	-1			no_errors	ENST00000268674	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A
TMCO5B	100652857	genome.wustl.edu	37	15	33537641	33537641	+	IGR	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:33537641T>C								TMCO5B (3150 upstream) : RP11-489D6.2 (58216 downstream)																							CTTTCCAGGCTGAGAAATATA	0.493																																																	0																																										SO:0001628	intergenic_variant	0																															15.37:g.33537641T>C				Splice_Site	SNP	-	NULL		37	c.NULL		15																																																																																			TMCO5B	-	-	ENSG00000215296	0	0.493					TMCO5B	HGNC			-	0.00	16	0	T			33537641	-1	tier1	-	no_errors	ENST00000530871	ensembl	human	known	74_37	splice_site	18.37	40	9	SNP	0.992	C
TMEM132B	114795	genome.wustl.edu	37	12	125834406	125834406	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:125834406A>G	ENST00000299308.3	+	2	469	c.461A>G	c.(460-462)gAa>gGa	p.E154G	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	154						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GACCTTACGGAAGATCTACCC	0.552																																																	0													112.0	112.0	112.0					12																	125834406		2013	4184	6197	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.461A>G	12.37:g.125834406A>G	ENSP00000299308:p.Glu154Gly		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.E154G	ENST00000299308.3	37	c.461	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810078	0.32053	.	.	ENSG00000139364	ENST00000299308	T	0.22539	1.95	5.58	2.94	0.34122	.	.	.	.	.	T	0.14313	0.0346	L	0.28400	0.85	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.07462	-1.0771	9	0.35671	T	0.21	.	8.094	0.30818	0.7921:0.1329:0.075:0.0	.	154	Q14DG7	T132B_HUMAN	G	154	ENSP00000299308:E154G	ENSP00000299308:E154G	E	+	2	0	TMEM132B	124400359	1.000000	0.71417	0.004000	0.12327	0.335000	0.28730	6.008000	0.70739	0.291000	0.22468	0.533000	0.62120	GAA	TMEM132B	-	NULL	ENSG00000139364		0.552	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	-	0.00	36	0	A	NM_052907		125834406	+1	tier1	-	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.963	G
TMEM168	64418	genome.wustl.edu	37	7	112407652	112407652	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:112407652G>A	ENST00000312814.6	-	5	2254	c.1694C>T	c.(1693-1695)gCa>gTa	p.A565V	TMEM168_ENST00000454074.1_Missense_Mutation_p.A565V	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	565						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TCCTTGCACTGCAATATACTG	0.403																																																	0													100.0	100.0	100.0					7																	112407652		2203	4300	6503	SO:0001583	missense	0				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1694C>T	7.37:g.112407652G>A	ENSP00000323068:p.Ala565Val		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.A565V	ENST00000312814.6	37	c.1694	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416431	0.83449	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.71	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.61218	1.895	0.80722	D	1	B	0.33299	0.407	B	0.23852	0.049	T	0.58691	-0.7592	9	0.87932	D	0	-31.0179	14.8863	0.70572	0.069:0.0:0.931:0.0	.	565	Q9H0V1	TM168_HUMAN	V	565;565;181;126	.	ENSP00000323068:A565V	A	-	2	0	TMEM168	112194888	1.000000	0.71417	0.990000	0.47175	0.967000	0.64934	9.808000	0.99193	1.407000	0.46875	0.585000	0.79938	GCA	TMEM168	-	NULL	ENSG00000146802		0.403	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	-	0.00	35	0	G	NM_022484		112407652	-1	tier1	-	no_errors	ENST00000312814	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
TMEM255B	348013	genome.wustl.edu	37	13	114504678	114504678	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:114504678G>A	ENST00000375353.3	+	7	589	c.562G>A	c.(562-564)Gac>Aac	p.D188N		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	188						integral component of membrane (GO:0016021)											CGGCTGCCAGGACGTGCTGCA	0.657																																																	0													30.0	25.0	27.0					13																	114504678		2201	4294	6495	SO:0001583	missense	0			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.562G>A	13.37:g.114504678G>A	ENSP00000364502:p.Asp188Asn			Missense_Mutation	SNP	NULL	p.D188N	ENST00000375353.3	37	c.562	CCDS45071.1	13	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694815	0.88830	.	.	ENSG00000184497	ENST00000375353	T	0.59906	0.23	4.69	4.69	0.59074	.	.	.	.	.	T	0.77968	0.4210	M	0.82716	2.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82232	-0.0559	9	0.72032	D	0.01	-30.6861	16.3895	0.83528	0.0:0.0:1.0:0.0	.	188	Q8WV15	FA70B_HUMAN	N	188	ENSP00000364502:D188N	ENSP00000364502:D188N	D	+	1	0	FAM70B	113609265	1.000000	0.71417	0.888000	0.34837	0.440000	0.31957	5.393000	0.66279	2.140000	0.66376	0.313000	0.20887	GAC	TMEM255B	-	NULL	ENSG00000184497		0.657	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM255B	HGNC	protein_coding	OTTHUMT00000045953.4	-	0.00	83	0	G	NM_182614		114504678	+1	tier1	-	no_errors	ENST00000375353	ensembl	human	known	74_37	missense	29.85	47	20	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7579377	7579378	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:7579377_7579378insGT	ENST00000269305.4	-	4	498_499	c.309_310insAC	c.(307-312)taccagfs	p.Q104fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q104fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.Q104fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q104fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q104fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q104fs	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	104	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; 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.Q104*(12)|p.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	TAGCTGCCCTGGTAGGTTTTCT	0.634		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"""	45	Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - deletion inframe(2)|Substitution - coding silent(1)|Complex - compound substitution(1)	lung(10)|large_intestine(4)|breast(4)|skin(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|biliary_tract(3)|central_nervous_system(2)|urinary_tract(2)|haematopoietic_and_lymphoid_tissue(1)|liver(1)	GRCh37	CM073388	TP53	M																																				SO:0001589	frameshift_variant	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.308_309dupAC	17.37:g.7579378_7579379dupGT	ENSP00000269305:p.Gln104fs		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	Frame_Shift_Ins	INS	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.Q103fs	ENST00000269305.4	37	c.310_309	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.634	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	260	0	-	NM_000546		7579378	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_ins	35.28	200	109	INS	0.934:0.998	GT
TRAM1L1	133022	genome.wustl.edu	37	4	118006215	118006215	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr4:118006215G>A	ENST00000310754.4	-	1	521	c.335C>T	c.(334-336)aCc>aTc	p.T112I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	112					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TTTCGCTTTGGTGAACTGCAT	0.368																																																	0													91.0	80.0	84.0					4																	118006215		2203	4300	6503	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.335C>T	4.37:g.118006215G>A	ENSP00000309402:p.Thr112Ile		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.T112I	ENST00000310754.4	37	c.335	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587703	0.66105	.	.	ENSG00000174599	ENST00000310754	T	0.45668	0.89	4.29	3.45	0.39498	TRAM1-like protein (1);	0.156524	0.64402	D	0.000015	T	0.44095	0.1277	L	0.29908	0.895	0.40381	D	0.979445	P	0.35107	0.484	P	0.50162	0.633	T	0.50767	-0.8789	10	0.87932	D	0	-21.8889	10.3176	0.43747	0.0978:0.0:0.9022:0.0	.	112	Q8N609	TR1L1_HUMAN	I	112	ENSP00000309402:T112I	ENSP00000309402:T112I	T	-	2	0	TRAM1L1	118225663	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	8.482000	0.90439	1.390000	0.46547	0.655000	0.94253	ACC	TRAM1L1	-	pfam_TRAM1,pirsf_Translocation_assoc_membrane	ENSG00000174599		0.368	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0.00	45	0	G	NM_152402		118006215	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	60.00	18	27	SNP	1.000	A
TRO	7216	genome.wustl.edu	37	X	54949885	54949885	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:54949885G>T	ENST00000173898.7	+	3	1032	c.920G>T	c.(919-921)aGc>aTc	p.S307I	TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.S307I|TRO_ENST00000319167.8_Missense_Mutation_p.S307I|TRO_ENST00000420798.2_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	307					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAGGCTGCCAGCAGGGGCCCA	0.552																																																	0													14.0	14.0	14.0					X																	54949885		1883	4083	5966	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.920G>T	X.37:g.54949885G>T	ENSP00000173898:p.Ser307Ile		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S307I	ENST00000173898.7	37	c.920	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	1.369	-0.586643	0.03827	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.43294	0.95;0.95;0.95	3.13	-3.11	0.05299	.	.	.	.	.	T	0.17408	0.0418	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.20174	-1.0283	8	.	.	.	.	0.3233	0.00306	0.2896:0.1924:0.1358:0.3823	.	307;307	Q96SX2;Q12816	.;TROP_HUMAN	I	307	ENSP00000173898:S307I;ENSP00000318278:S307I;ENSP00000364162:S307I	.	S	+	2	0	TRO	54966610	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.314000	0.08092	-0.777000	0.04572	-0.528000	0.04320	AGC	TRO	-	NULL	ENSG00000067445		0.552	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	-	0.00	13	0	G	NM_016157		54949885	+1	tier1	-	no_errors	ENST00000173898	ensembl	human	known	74_37	missense	82.76	5	24	SNP	0.000	T
TROVE2	6738	genome.wustl.edu	37	1	193051321	193051321	+	Silent	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:193051321C>G	ENST00000367446.3	+	7	1419	c.1209C>G	c.(1207-1209)gtC>gtG	p.V403V	TROVE2_ENST00000432079.1_Silent_p.V128V|TROVE2_ENST00000367445.3_Silent_p.V403V|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000400968.2_Silent_p.V403V|TROVE2_ENST00000416058.2_Silent_p.V128V|TROVE2_ENST00000367441.1_Silent_p.V403V|TROVE2_ENST00000367444.3_Silent_p.V403V|TROVE2_ENST00000367443.1_Silent_p.V403V	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	403	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TTCAGGTTGTCACACGAACAG	0.338																																																	0													98.0	90.0	93.0					1																	193051321		1815	4071	5886	SO:0001819	synonymous_variant	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1209C>G	1.37:g.193051321C>G			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	pfam_TROVE,pfscan_TROVE	p.V403	ENST00000367446.3	37	c.1209	CCDS1379.1	1																																																																																			TROVE2	-	NULL	ENSG00000116747		0.338	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	-	0.00	36	0	C	NM_004600		193051321	+1	tier1	-	no_errors	ENST00000367441	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.989	G
TRPM3	80036	genome.wustl.edu	37	9	73457998	73457998	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:73457998T>G	ENST00000377111.2	-	5	965	c.722A>C	c.(721-723)aAg>aCg	p.K241T	TRPM3_ENST00000377106.1_Missense_Mutation_p.K88T|TRPM3_ENST00000396285.1_Missense_Mutation_p.K88T|TRPM3_ENST00000423814.3_Missense_Mutation_p.K243T|TRPM3_ENST00000361823.5_Missense_Mutation_p.K88T|TRPM3_ENST00000377105.1_Missense_Mutation_p.K88T|TRPM3_ENST00000360823.2_Missense_Mutation_p.K88T|TRPM3_ENST00000396283.1_Missense_Mutation_p.K88T|TRPM3_ENST00000377110.3_Missense_Mutation_p.K241T|TRPM3_ENST00000358082.3_Missense_Mutation_p.K88T|TRPM3_ENST00000357533.2_Missense_Mutation_p.K243T|TRPM3_ENST00000377097.3_Missense_Mutation_p.K88T|TRPM3_ENST00000396280.5_Missense_Mutation_p.K88T|TRPM3_ENST00000396292.4_Missense_Mutation_p.K88T|TRPM3_ENST00000377101.1_Missense_Mutation_p.K88T|TRPM3_ENST00000408909.2_Missense_Mutation_p.K88T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	241					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						TCCTCGAGACTTAGAGGCATG	0.423																																																	0													99.0	87.0	91.0					9																	73457998		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	ENST00000377111.2:c.722A>C	9.37:g.73457998T>G	ENSP00000366315:p.Lys241Thr		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.K243T	ENST00000377111.2	37	c.728		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.91|13.91|13.91	2.379320|2.379320|2.379320	0.42207|0.42207|0.42207	.|.|.	.|.|.	ENSG00000083067|ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.73469|.|.	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75|.|.	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.61464|0.61464|.	0.2349|0.2349|.	L|L|L	0.42245|0.42245|0.42245	1.32|1.32|1.32	0.48185|0.48185|0.48185	D|D|D	0.9996|0.9996|0.9996	B;D;B;P;P;D;B;P;D;P;B|.|.	0.89917|.|.	0.374;1.0;0.367;0.756;0.578;0.998;0.369;0.733;0.998;0.578;0.107|.|.	B;D;B;P;B;D;B;B;D;B;B|.|.	0.91635|.|.	0.148;0.999;0.146;0.583;0.176;0.909;0.226;0.377;0.909;0.242;0.118|.|.	T|T|.	0.58177|0.58177|.	-0.7682|-0.7682|.	10|5|.	0.39692|.|.	T|.|.	0.17|.|.	-16.1724|-16.1724|-16.1724	15.8059|15.8059|15.8059	0.78506|0.78506|0.78506	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	241;243;88;241;241;241;243;88;88;241;88|.|.	Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.|.|.	T|R|Y	241;241;88;88;88;243;88;88;88;88;243;88;88;88;88|131|87	ENSP00000366315:K241T;ENSP00000366314:K241T;ENSP00000366310:K88T;ENSP00000354066:K88T;ENSP00000366309:K88T;ENSP00000350140:K243T;ENSP00000386127:K88T;ENSP00000379581:K88T;ENSP00000379587:K88T;ENSP00000350791:K88T;ENSP00000389542:K243T;ENSP00000366305:K88T;ENSP00000379579:K88T;ENSP00000355395:K88T|.|.	ENSP00000350140:K243T|.|.	K|S|X	-|-|-	2|1|3	0|0|2	TRPM3|TRPM3|TRPM3	72647818|72647818|72647818	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.696000|0.696000|0.696000	0.40369|0.40369|0.40369	5.160000|5.160000|5.160000	0.64929|0.64929|0.64929	2.136000|2.136000|2.136000	0.66102|0.66102|0.66102	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	AAG|AGT|TAA	TRPM3	-	NULL	ENSG00000083067		0.423	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0.00	29	0	T	NM_206945		73457998	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	G
TRPS1	7227	genome.wustl.edu	37	8	116599552	116599552	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:116599552T>G	ENST00000220888.5	-	4	2496	c.2337A>C	c.(2335-2337)aaA>aaC	p.K779N	TRPS1_ENST00000395715.3_Missense_Mutation_p.K792N|TRPS1_ENST00000519076.1_Missense_Mutation_p.K533N|TRPS1_ENST00000520276.1_Missense_Mutation_p.K783N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K779N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	779	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CGGTCCAAACTTTCTCTTTGA	0.527									Langer-Giedion syndrome																																								0													292.0	302.0	299.0					8																	116599552		1967	4141	6108	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2337A>C	8.37:g.116599552T>G	ENSP00000220888:p.Lys779Asn		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.K792N	ENST00000220888.5	37	c.2376		8	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723661	0.48728	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98914	-5.23;-5.2;-5.16;-5.2;0.56	5.76	0.809	0.18725	.	0.000000	0.85682	D	0.000000	D	0.97882	0.9304	L	0.34521	1.04	0.38040	D	0.935437	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.96805	0.9592	10	0.87932	D	0	.	9.7367	0.40392	0.0:0.3387:0.0:0.6613	.	783;779;792	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	792;779;533;783;779	ENSP00000379065:K792N;ENSP00000220888:K779N;ENSP00000428910:K533N;ENSP00000428680:K783N;ENSP00000429174:K779N	ENSP00000220888:K779N	K	-	3	2	TRPS1	116668727	0.984000	0.35163	0.976000	0.42696	0.505000	0.33919	0.858000	0.27845	-0.076000	0.12775	-0.250000	0.11733	AAA	TRPS1	-	NULL	ENSG00000104447		0.527	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0.00	38	0	T	NM_014112		116599552	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	38.33	37	23	SNP	0.662	G
TTN	7273	genome.wustl.edu	37	2	179489321	179489321	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:179489321T>A	ENST00000591111.1	-	192	39987	c.39763A>T	c.(39763-39765)Aag>Tag	p.K13255*	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K12328*|TTN_ENST00000589042.1_Nonsense_Mutation_p.K14896*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.K6023*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.K5956*|TTN_ENST00000460472.2_Nonsense_Mutation_p.K5831*|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13255	Ig-like 88.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATACTTCTTGCTTTTGAGG	0.423																																																	0													107.0	104.0	105.0					2																	179489321		1877	4105	5982	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39763A>T	2.37:g.179489321T>A	ENSP00000465570:p.Lys13255*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K12328*	ENST00000591111.1	37	c.36982		2	.	.	.	.	.	.	.	.	.	.	T	58	31.995227	0.99979	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	.	.	.	X	12328;5831;6023;5956;5831	.	ENSP00000340554:K6023X	K	-	1	0	TTN	179197566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.323000	0.78572	0.528000	0.53228	AAG	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	32	0	T	NM_133378		179489321	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	12.73	48	7	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179547580	179547580	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:179547580C>G	ENST00000591111.1	-	133	32211	c.31987G>C	c.(31987-31989)Gct>Cct	p.A10663P	TTN_ENST00000342992.6_Missense_Mutation_p.A9736P|TTN_ENST00000589042.1_Missense_Mutation_p.A10980P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGAAACAGCTTCTTCTTCT	0.328																																																	0													189.0	159.0	169.0					2																	179547580		1832	4080	5912	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31987G>C	2.37:g.179547580C>G	ENSP00000465570:p.Ala10663Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A9736P	ENST00000591111.1	37	c.29206		2	.	.	.	.	.	.	.	.	.	.	C	2.653	-0.281529	0.05642	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.65549	-0.01;-0.16	5.08	-1.72	0.08107	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.36496	0.0969	N	0.08118	0	0.24460	N	0.994441	B;B	0.25105	0.021;0.118	B;B	0.23150	0.012;0.044	T	0.22871	-1.0204	9	0.87932	D	0	.	5.9085	0.19014	0.1241:0.3807:0.0:0.4952	.	10663;10399	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	P	9736;594	ENSP00000343764:A9736P;ENSP00000401501:A594P	ENSP00000343764:A9736P	A	-	1	0	TTN	179255825	0.052000	0.20516	0.175000	0.22980	0.232000	0.25224	0.371000	0.20450	-0.482000	0.06782	-0.768000	0.03414	GCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.328	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	78	0	C	NM_133378		179547580	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	27.00	73	27	SNP	0.094	G
TTN	7273	genome.wustl.edu	37	2	179637875	179637875	+	Missense_Mutation	SNP	C	C	T	rs375286376		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:179637875C>T	ENST00000591111.1	-	33	8040	c.7816G>A	c.(7816-7818)Gcg>Acg	p.A2606T	TTN_ENST00000342992.6_Missense_Mutation_p.A2606T|TTN_ENST00000360870.5_Missense_Mutation_p.A2606T|TTN_ENST00000589042.1_Missense_Mutation_p.A2606T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2560T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A2560T|TTN_ENST00000460472.2_Missense_Mutation_p.A2560T|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12929					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTCCCGCGTAAAATGTG	0.294																																																	0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4404		0,0,2202	51.0	54.0	53.0		7678,7816,7816,7678,7678	5.6	1.0	2		53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	58,58,58,58,58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2560/26927,2606/33424,2606/5605,2560/27052,2560/27119	179637875	1,13003	2202	4300	6502	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7816G>A	2.37:g.179637875C>T	ENSP00000465570:p.Ala2606Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A2606T	ENST00000591111.1	37	c.7816		2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440570	0.43326	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88883	0.6558	M	0.77486	2.375	0.32584	N	0.528148	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.95;0.95;0.95;0.98;0.99	D	0.90629	0.4565	9	0.87932	D	0	.	19.6016	0.95566	0.0:1.0:0.0:0.0	.	2560;2560;2560;2606;2606	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2606;2560;2560;2560;2560;2606	ENSP00000343764:A2606T;ENSP00000434586:A2560T;ENSP00000340554:A2560T;ENSP00000352154:A2560T;ENSP00000354117:A2606T	ENSP00000340554:A2560T	A	-	1	0	TTN	179346120	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.056000	0.71111	2.642000	0.89623	0.650000	0.86243	GCG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.294	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	35	0	C	NM_133378		179637875	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	52.94	16	18	SNP	1.000	T
TUBA8	51807	genome.wustl.edu	37	22	18609304	18609304	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:18609304T>C	ENST00000330423.3	+	4	632	c.559T>C	c.(559-561)Tcc>Ccc	p.S187P	TUBA8_ENST00000316027.6_Missense_Mutation_p.S121P	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	187					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GCCCTACAACTCCATCCTGAC	0.527																																																	0													138.0	125.0	129.0					22																	18609304		2203	4300	6503	SO:0001583	missense	0			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.559T>C	22.37:g.18609304T>C	ENSP00000333326:p.Ser187Pro		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S187P	ENST00000330423.3	37	c.559	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	14.70	2.615168	0.46631	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	T;T;T	0.72051	-0.62;-0.62;-0.62	5.67	4.61	0.57282	Tubulin/FtsZ, GTPase domain (4);	0.104353	0.64402	D	0.000002	D	0.88463	0.6443	H	0.96889	3.9	0.54753	D	0.99998	D;D;D	0.76494	0.989;0.999;0.994	D;D;D	0.74674	0.974;0.984;0.922	D	0.90882	0.4754	10	0.87932	D	0	.	12.2579	0.54634	0.0:0.0:0.1421:0.8579	.	121;211;187	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	P	121;187;211	ENSP00000318575:S121P;ENSP00000333326:S187P;ENSP00000412646:S211P	ENSP00000318575:S121P	S	+	1	0	TUBA8	16989304	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.163000	0.58183	1.035000	0.39972	0.533000	0.62120	TCC	TUBA8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	ENSG00000183785		0.527	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	-	0.00	64	0	T	NM_018943		18609304	+1	tier1	-	no_errors	ENST00000330423	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	C
UPF2	26019	genome.wustl.edu	37	10	11994105	11994105	+	Silent	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:11994105C>T	ENST00000356352.2	-	14	3467	c.2994G>A	c.(2992-2994)agG>agA	p.R998R	UPF2_ENST00000357604.5_Silent_p.R998R|UPF2_ENST00000397053.2_Silent_p.R998R			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	998	Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTGTACCTGCCTGATGGATT	0.353																																																	0													207.0	202.0	204.0					10																	11994105		2202	4300	6502	SO:0001819	synonymous_variant	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2994G>A	10.37:g.11994105C>T			A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R998	ENST00000356352.2	37	c.2994	CCDS7086.1	10																																																																																			UPF2	-	superfamily_ARM-type_fold	ENSG00000151461		0.353	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1		0.00	37	0	C			11994105	-1			no_errors	ENST00000356352	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	T
USP17L2	377630	genome.wustl.edu	37	8	11995298	11995298	+	Silent	SNP	G	G	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:11995298G>C	ENST00000333796.3	-	1	1288	c.972C>G	c.(970-972)gtC>gtG	p.V324V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	324	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACCCAGCGTGGACCAGCACAG	0.483																																																	0													12.0	13.0	13.0					8																	11995298		1611	3822	5433	SO:0001819	synonymous_variant	0			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.972C>G	8.37:g.11995298G>C				Silent	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.V324	ENST00000333796.3	37	c.972	CCDS43713.1	8																																																																																			USP17L2	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000223443		0.483	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	-	0.00	84	0	G	NM_201402		11995298	-1	tier1	-	no_errors	ENST00000333796	ensembl	human	known	74_37	silent	11.54	115	15	SNP	0.995	C
UTP20	27340	genome.wustl.edu	37	12	101774935	101774935	+	Silent	SNP	C	C	T	rs372963217		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:101774935C>T	ENST00000261637.4	+	58	7776	c.7602C>T	c.(7600-7602)ctC>ctT	p.L2534L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2534					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTATCTCTCTCGCCTCTTGCC	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18681	0.001		0.0	False		,,,				2504	0.0																0								C		0,4406		0,0,2203	128.0	124.0	125.0		7602	0.1	1.0	12		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UTP20	NM_014503.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2534/2786	101774935	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7602C>T	12.37:g.101774935C>T			Q9H3H4	Silent	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L2534	ENST00000261637.4	37	c.7602	CCDS9081.1	12																																																																																			UTP20	-	NULL	ENSG00000120800		0.383	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0.00	24	0	C	NM_014503		101774935	+1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.923	T
VWC2	375567	genome.wustl.edu	37	7	49815635	49815635	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:49815635G>A	ENST00000340652.4	+	2	1160	c.604G>A	c.(604-606)Gtc>Atc	p.V202I		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	202	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CTGCATCCACGTCGACACGAG	0.672																																																	0													13.0	18.0	16.0					7																	49815635		2149	4228	6377	SO:0001583	missense	0			AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.604G>A	7.37:g.49815635G>A	ENSP00000341819:p.Val202Ile		Q6UXE2	Missense_Mutation	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.V202I	ENST00000340652.4	37	c.604	CCDS5508.1	7	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570472	0.65765	.	.	ENSG00000188730	ENST00000340652	T	0.15834	2.39	4.81	4.81	0.61882	von Willebrand factor, type C (1);	0.000000	0.64402	D	0.000001	T	0.10594	0.0259	N	0.14661	0.345	0.51233	D	0.999916	B	0.33826	0.427	B	0.25291	0.059	T	0.20472	-1.0274	10	0.25751	T	0.34	.	18.301	0.90163	0.0:0.0:1.0:0.0	.	202	Q2TAL6	VWC2_HUMAN	I	202	ENSP00000341819:V202I	ENSP00000341819:V202I	V	+	1	0	VWC2	49786181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.549000	0.73900	2.379000	0.81126	0.555000	0.69702	GTC	VWC2	-	smart_VWF_C	ENSG00000188730		0.672	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2	HGNC	protein_coding	OTTHUMT00000251375.2	-	0.00	18	0	G	NM_198570		49815635	+1	tier1	-	no_errors	ENST00000340652	ensembl	human	known	74_37	missense	45.83	13	11	SNP	1.000	A
VWC2L	402117	genome.wustl.edu	37	2	215440493	215440493	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:215440493G>T	ENST00000312504.5	+	4	1420	c.618G>T	c.(616-618)tgG>tgT	p.W206C	AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	206					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GGGACTGGTGGAAGCCTGCTC	0.478																																																	0													229.0	224.0	226.0					2																	215440493		2031	4207	6238	SO:0001583	missense	0			AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.618G>T	2.37:g.215440493G>T	ENSP00000308976:p.Trp206Cys		A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	smart_VWF_C,pfscan_VWF_C	p.W206C	ENST00000312504.5	37	c.618	CCDS46509.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002228	0.74932	.	.	ENSG00000174453	ENST00000312504	T	0.43294	0.95	5.58	5.58	0.84498	.	.	.	.	.	T	0.50497	0.1619	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.48768	-0.9006	9	0.38643	T	0.18	-2.2715	19.5796	0.95461	0.0:0.0:1.0:0.0	.	206	B2RUY7	VWC2L_HUMAN	C	206	ENSP00000308976:W206C	ENSP00000308976:W206C	W	+	3	0	VWC2L	215148738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.624000	0.88883	0.655000	0.94253	TGG	VWC2L	-	NULL	ENSG00000174453		0.478	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2L	HGNC	protein_coding	OTTHUMT00000337175.1	-	0.00	61	0	G	NM_001080500		215440493	+1	tier1	-	no_errors	ENST00000312504	ensembl	human	known	74_37	missense	10.53	68	8	SNP	1.000	T
WDR64	128025	genome.wustl.edu	37	1	241886718	241886718	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:241886718G>A	ENST00000366552.2	+	9	1351	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	WDR64_ENST00000437684.2_Missense_Mutation_p.V382I	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	382										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCAACATGTCGTCAGCCTTTC	0.398																																																	0													82.0	77.0	78.0					1																	241886718		2203	4300	6503	SO:0001583	missense	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1144G>A	1.37:g.241886718G>A	ENSP00000355510:p.Val382Ile		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V382I	ENST00000366552.2	37	c.1144		1	.	.	.	.	.	.	.	.	.	.	G	0.996	-0.692367	0.03303	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.44083	1.51;0.93;4.94	4.7	3.57	0.40892	.	0.208574	0.33110	N	0.005269	T	0.10809	0.0264	N	0.00729	-1.24	0.23946	N	0.996388	B	0.06786	0.001	B	0.01281	0.0	T	0.35126	-0.9801	10	0.02654	T	1	-11.5077	7.6671	0.28437	0.897:0.0:0.103:0.0	.	102	D1MPS4	.	I	382;382;153	ENSP00000355510:V382I;ENSP00000402446:V382I;ENSP00000406656:V153I	ENSP00000355510:V382I	V	+	1	0	WDR64	239953341	0.955000	0.32602	0.788000	0.31933	0.055000	0.15305	2.064000	0.41432	0.758000	0.33059	-0.471000	0.05019	GTC	WDR64	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162843		0.398	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		-	0.00	16	0	G	NM_144625		241886718	+1	tier1	-	no_errors	ENST00000366552	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.985	A
WHSC1L1	54904	genome.wustl.edu	37	8	38175279	38175280	+	Intron	INS	-	-	A	rs373484177		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:38175279_38175280insA	ENST00000317025.8	-	9	2373				WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000316985.3_3'UTR|WHSC1L1_ENST00000433384.2_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGCTCAAACCGAAAAAAAAAAA	0.361			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0																																										SO:0001627	intron_variant	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1855+1132->T	8.37:g.38175290_38175290dupA			B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	RNA	INS	-	NULL	ENST00000317025.8	37	NULL	CCDS43729.1	8																																																																																			WHSC1L1	-	-	ENSG00000147548		0.361	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3		0.00	12	0	-	NM_023034		38175280	-1	tier1		no_errors	ENST00000525081	ensembl	human	known	74_37	rna	20.00	24	6	INS	0.635:0.998	A
WNT5B	81029	genome.wustl.edu	37	12	1742006	1742006	+	Missense_Mutation	SNP	G	G	A	rs200966877		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:1742006G>A	ENST00000397196.2	+	3	495	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	WNT5B_ENST00000537031.1_Missense_Mutation_p.R88Q|WNT5B_ENST00000542408.1_Missense_Mutation_p.R88Q|WNT5B_ENST00000310594.3_Missense_Mutation_p.R88Q	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	88				R -> P (in Ref. 1; AAG38659). {ECO:0000305}.	cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CACCAGTTCCGGCAGCGGCGG	0.572																																																	0													65.0	65.0	65.0					12																	1742006		2203	4300	6503	SO:0001583	missense	0			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.263G>A	12.37:g.1742006G>A	ENSP00000380379:p.Arg88Gln		A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.R88Q	ENST00000397196.2	37	c.263	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.160623	0.94727	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.09	5.09	0.68999	.	0.047108	0.85682	D	0.000000	T	0.78780	0.4337	L	0.55834	1.745	0.58432	D	0.999998	P	0.52577	0.954	P	0.50109	0.631	T	0.80790	-0.1225	10	0.66056	D	0.02	.	12.3126	0.54938	0.0779:0.0:0.9221:0.0	.	88	Q9H1J7	WNT5B_HUMAN	Q	88	ENSP00000438414:R88Q;ENSP00000445395:R88Q;ENSP00000439312:R88Q;ENSP00000308887:R88Q;ENSP00000380379:R88Q;ENSP00000442348:R88Q;ENSP00000440600:R88Q	ENSP00000308887:R88Q	R	+	2	0	WNT5B	1612267	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.708000	0.74660	2.540000	0.85666	0.644000	0.83932	CGG	WNT5B	-	pfam_Wnt,smart_Wnt	ENSG00000111186		0.572	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	-	0.00	38	0	G			1742006	+1	tier1	rs200966877	no_errors	ENST00000310594	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	A
XIRP2	129446	genome.wustl.edu	37	2	168105196	168105196	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:168105196C>T	ENST00000409195.1	+	9	7383	c.7294C>T	c.(7294-7296)Cat>Tat	p.H2432Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2210Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2432Y|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2257					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTCCCAAGCATATAAAAGA	0.403																																																	0													83.0	84.0	84.0					2																	168105196		1823	4082	5905	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7294C>T	2.37:g.168105196C>T	ENSP00000386840:p.His2432Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.H2432Y	ENST00000409195.1	37	c.7294	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	9.106	1.005291	0.19199	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02525	4.26;4.26;4.26	5.67	2.77	0.32553	.	1.627960	0.03329	N	0.193055	T	0.02533	0.0077	N	0.22421	0.69	0.09310	N	1	B;P;P	0.34977	0.347;0.478;0.478	B;B;B	0.28709	0.043;0.093;0.093	T	0.40251	-0.9573	10	0.56958	D	0.05	1.6233	3.5961	0.08006	0.2811:0.3831:0.2587:0.0771	.	2257;2257;2210	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2432;2432;2210	ENSP00000386840:H2432Y;ENSP00000295237:H2432Y;ENSP00000387255:H2210Y	ENSP00000295237:H2432Y	H	+	1	0	XIRP2	167813442	0.000000	0.05858	0.005000	0.12908	0.806000	0.45545	-0.785000	0.04628	0.278000	0.22164	0.655000	0.94253	CAT	XIRP2	-	NULL	ENSG00000163092		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0.00	34	0	C	NM_152381		168105196	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.001	T
ZFAT	57623	genome.wustl.edu	37	8	135614670	135614670	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:135614670G>A	ENST00000377838.3	-	6	1466	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	ZFAT_ENST00000520214.1_Missense_Mutation_p.P419L|ZFAT_ENST00000520356.1_Missense_Mutation_p.P419L|ZFAT_ENST00000523399.1_Missense_Mutation_p.P369L|ZFAT_ENST00000520727.1_Missense_Mutation_p.P419L|ZFAT_ENST00000429442.2_Missense_Mutation_p.P419L|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	431					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACAGGCAAAAGGCCACTTGTC	0.602																																																	0													48.0	51.0	50.0					8																	135614670		2079	4217	6296	SO:0001583	missense	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1292C>T	8.37:g.135614670G>A	ENSP00000367069:p.Pro431Leu		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P431L	ENST00000377838.3	37	c.1292	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961158	0.92791	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	5.74	5.74	0.90152	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	M	0.65677	2.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.997	T	0.20207	-1.0282	10	0.72032	D	0.01	-26.9515	18.9218	0.92528	0.0:0.0:1.0:0.0	.	369;419;419;431	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	419;419;419;431;419;369;419	ENSP00000427879:P419L;ENSP00000427831:P419L;ENSP00000394501:P419L;ENSP00000367069:P431L;ENSP00000428483:P419L;ENSP00000429091:P369L	ENSP00000367069:P431L	P	-	2	0	ZFAT	135683852	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.869000	0.99810	2.717000	0.92951	0.563000	0.77884	CCT	ZFAT	-	pfscan_Znf_C2H2	ENSG00000066827		0.602	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	-	0.00	27	0	G	NM_001029939		135614670	-1	tier1	-	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	A
ZFHX2	85446	genome.wustl.edu	37	14	24002107	24002107	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:24002107C>T	ENST00000419474.3	-	3	2583	c.2228G>A	c.(2227-2229)cGg>cAg	p.R743Q	RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	743					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						CGGGAGGCTCCGGCCTATGCT	0.612																																																	0																																										SO:0001583	missense	0			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.2228G>A	14.37:g.24002107C>T	ENSP00000413418:p.Arg743Gln		Q9UPU6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.R743Q	ENST00000419474.3	37	c.2228	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305962	0.81247	.	.	ENSG00000136367	ENST00000419474;ENST00000382785	T	0.60299	0.2	4.63	4.63	0.57726	.	.	.	.	.	T	0.72581	0.3478	M	0.75884	2.315	0.35967	D	0.835005	.	.	.	.	.	.	T	0.81453	-0.0926	7	0.87932	D	0	.	16.4164	0.83743	0.0:1.0:0.0:0.0	.	.	.	.	Q	743	ENSP00000413418:R743Q	ENSP00000372235:R743Q	R	-	2	0	ZFHX2	23071947	1.000000	0.71417	0.947000	0.38551	0.992000	0.81027	7.651000	0.83577	2.406000	0.81754	0.655000	0.94253	CGG	ZFHX2	-	NULL	ENSG00000136367		0.612	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3		0.00	28	0	C	NM_014894		24002107	-1			no_errors	ENST00000419474	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T
ZNF18	7566	genome.wustl.edu	37	17	11881337	11881337	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:11881337G>T	ENST00000322748.3	-	9	2191	c.1587C>A	c.(1585-1587)ttC>ttA	p.F529L	ZNF18_ENST00000454073.3_Missense_Mutation_p.F528L|ZNF18_ENST00000580306.2_Missense_Mutation_p.F529L|RP11-1096G20.5_ENST00000580270.1_RNA	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	529					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGCTCCAGCTGAAACTTTTCC	0.418																																																	0													113.0	113.0	113.0					17																	11881337		2203	4300	6503	SO:0001583	missense	0			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1587C>A	17.37:g.11881337G>T	ENSP00000315664:p.Phe529Leu		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F529L	ENST00000322748.3	37	c.1587	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150559	0.57151	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.46063	0.88	5.89	5.89	0.94794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000019	T	0.62600	0.2441	M	0.87758	2.905	0.47862	D	0.999535	D;D	0.56968	0.972;0.978	P;P	0.51895	0.555;0.683	T	0.69654	-0.5087	10	0.87932	D	0	-15.8861	17.8139	0.88625	0.0:0.0:1.0:0.0	.	528;529	P17022-2;P17022	.;ZNF18_HUMAN	L	529	ENSP00000315664:F529L	ENSP00000315664:F529L	F	-	3	2	ZNF18	11822062	0.974000	0.33945	1.000000	0.80357	0.877000	0.50540	1.343000	0.33930	2.807000	0.96579	0.551000	0.68910	TTC	ZNF18	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000154957		0.418	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	-	0.00	57	0	G	XM_085596		11881337	-1	tier1	-	no_errors	ENST00000322748	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
ZNF559	84527	genome.wustl.edu	37	19	9449867	9449867	+	Splice_Site	SNP	A	A	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:9449867A>C	ENST00000393883.2	+	4	681		c.e4-1		ZNF559_ENST00000586255.1_Splice_Site|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Splice_Site|ZNF559_ENST00000592504.1_Splice_Site|ZNF559_ENST00000585352.1_Splice_Site|ZNF559_ENST00000317221.7_Splice_Site|ZNF559_ENST00000587557.1_Splice_Site|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Splice_Site	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GTGATGGTTTAGGACTCAGTG	0.488																																																	0													226.0	189.0	201.0					19																	9449867		2203	4300	6503	SO:0001630	splice_region_variant	0			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.34-1A>C	19.37:g.9449867A>C			K7EMG6	Splice_Site	SNP	-	e2-2	ENST00000393883.2	37	c.34-2	CCDS12211.1	19	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637888	0.29157	.	.	ENSG00000188321	ENST00000317221;ENST00000393883	.	.	.	2.42	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7135	0.34397	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF559	9310867	0.993000	0.37304	0.919000	0.36401	0.538000	0.34931	1.316000	0.33620	1.363000	0.46019	0.260000	0.18958	.	ZNF559	-	-	ENSG00000188321		0.488	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1	-	0.00	107	0	A	NM_032497	Intron	9449867	+1	tier1	-	no_errors	ENST00000393883	ensembl	human	known	74_37	splice_site	15.52	98	18	SNP	0.988	C
ZNF729	100287226	genome.wustl.edu	37	19	22498360	22498360	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:22498360G>A	ENST00000601693.1	+	4	2259	c.2141G>A	c.(2140-2142)tGt>tAt	p.C714Y	ZNF729_ENST00000357491.6_Missense_Mutation_p.C714Y			A6NN14	ZN729_HUMAN	zinc finger protein 729	714					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						CCCTACAAATGTGAAGAATGT	0.368																																																	0																																										SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.2141G>A	19.37:g.22498360G>A	ENSP00000469582:p.Cys714Tyr		M0QY45	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C714Y	ENST00000601693.1	37	c.2141	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	12.51	1.960822	0.34565	.	.	ENSG00000196350	ENST00000357491	D	0.85088	-1.94	0.996	0.996	0.19844	.	.	.	.	.	D	0.90597	0.7052	M	0.90019	3.08	.	.	.	.	.	.	.	.	.	D	0.91469	0.5195	6	0.72032	D	0.01	.	8.7778	0.34774	0.0:0.0:1.0:0.0	.	.	.	.	Y	714	ENSP00000350085:C714Y	ENSP00000350085:C714Y	C	+	2	0	ZNF729	22290200	0.996000	0.38824	0.859000	0.33776	0.841000	0.47740	3.773000	0.55333	0.416000	0.25844	0.416000	0.27883	TGT	ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.368	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	-	0.00	39	0	G	XM_496301		22498360	+1	tier1	-	no_errors	ENST00000601693	ensembl	human	novel	74_37	missense	28.21	28	11	SNP	0.633	A
ZNF567	163081	genome.wustl.edu	37	19	37211536	37211536	+	Missense_Mutation	SNP	G	G	T	rs146394117		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:37211536G>T	ENST00000536254.2	+	6	2132	c.1910G>T	c.(1909-1911)aGa>aTa	p.R637I	ZNF567_ENST00000588311.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.R606I|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.R606I			Q8N184	ZN567_HUMAN	zinc finger protein 567	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R606I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTCCATCAAAGAACTCACAAG	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)						G	ILE/ARG	0,4406		0,0,2203	51.0	54.0	53.0		1817	3.2	1.0	19	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF567	NM_152603.2	97	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	606/617	37211536	1,13005	2203	4300	6503	SO:0001583	missense	0			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1910G>T	19.37:g.37211536G>T	ENSP00000441838:p.Arg637Ile		B3KX49|Q6N044	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R637I	ENST00000536254.2	37	c.1910		19	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880625	0.33255	0.0	1.16E-4	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498	T;T	0.32753	2.83;1.44	5.34	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.284007	0.25601	N	0.029541	T	0.28134	0.0694	M	0.71296	2.17	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.33394	-0.9870	10	0.72032	D	0.01	.	3.6807	0.08309	0.0879:0.1686:0.5682:0.1752	.	637	Q8N184	ZN567_HUMAN	I	637;581;606;636	ENSP00000441838:R637I;ENSP00000353957:R606I	ENSP00000353957:R606I	R	+	2	0	ZNF567	41903376	0.004000	0.15560	1.000000	0.80357	0.998000	0.95712	0.263000	0.18478	1.578000	0.49821	0.650000	0.86243	AGA	ZNF567	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189042		0.328	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	-	0.00	45	0	G	NM_152603		37211536	+1	tier1	rs146394117	no_errors	ENST00000536254	ensembl	human	known	74_37	missense	37.10	39	23	SNP	1.000	T
ZNF570	148268	genome.wustl.edu	37	19	37976049	37976049	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:37976049C>A	ENST00000330173.1	+	5	2054	c.1525C>A	c.(1525-1527)Cag>Aag	p.Q509K	ZNF570_ENST00000586475.1_Missense_Mutation_p.Q565K|ZNF570_ENST00000388801.3_Missense_Mutation_p.Q306K|CTD-2086O20.3_ENST00000591976.1_lincRNA	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACCTTCAGGCAGCATGCACA	0.458																																																	0													116.0	116.0	116.0					19																	37976049		2203	4300	6503	SO:0001583	missense	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1525C>A	19.37:g.37976049C>A	ENSP00000331540:p.Gln509Lys		A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q509K	ENST00000330173.1	37	c.1525	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829508	0.50845	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.07021	3.23;3.23	4.55	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.198288	0.25058	N	0.033475	T	0.09862	0.0242	L	0.41415	1.275	0.19575	N	0.999962	B;P	0.52061	0.004;0.95	B;P	0.45913	0.006;0.497	T	0.12915	-1.0529	10	0.49607	T	0.09	.	11.7758	0.51985	0.1762:0.8238:0.0:0.0	.	306;509	B4DMP1;Q96NI8	.;ZN570_HUMAN	K	509;306	ENSP00000331540:Q509K;ENSP00000373453:Q306K	ENSP00000331540:Q509K	Q	+	1	0	ZNF570	42667889	0.000000	0.05858	0.977000	0.42913	0.996000	0.88848	0.170000	0.16663	2.503000	0.84419	0.563000	0.77884	CAG	ZNF570	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171827		0.458	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0.00	35	0	C	NM_144694		37976049	+1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.667	A
ZNF528	84436	genome.wustl.edu	37	19	52919173	52919173	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:52919173A>C	ENST00000360465.3	+	7	1494	c.1068A>C	c.(1066-1068)gaA>gaC	p.E356D	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ACAAATGTGAAGAATGTGGCA	0.393																																																	0													72.0	70.0	71.0					19																	52919173		2203	4300	6503	SO:0001583	missense	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1068A>C	19.37:g.52919173A>C	ENSP00000353652:p.Glu356Asp		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E356D	ENST00000360465.3	37	c.1068	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	A	8.031	0.761837	0.15914	.	.	ENSG00000167555	ENST00000360465	T	0.16897	2.31	2.08	-0.975	0.10289	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	9	0.35671	T	0.21	.	0.2688	0.00229	0.2411:0.1686:0.3019:0.2884	.	356	Q3MIS6	ZN528_HUMAN	D	356	ENSP00000353652:E356D	ENSP00000353652:E356D	E	+	3	2	ZNF528	57610985	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-3.867000	0.00346	0.001000	0.14605	-0.438000	0.05819	GAA	ZNF528	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167555		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	-	0.00	25	0	A	NM_032423		52919173	+1	tier1	-	no_errors	ENST00000360465	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.001	C
ZSWIM5	57643	genome.wustl.edu	37	1	45504721	45504721	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:45504721G>A	ENST00000359600.5	-	8	1986	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	594						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTTTGTGATGGTTGTGGTTCC	0.512																																																	0													72.0	74.0	74.0					1																	45504721		1883	4110	5993	SO:0001583	missense	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1781C>T	1.37:g.45504721G>A	ENSP00000352614:p.Thr594Ile		Q5SXQ9	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.T594I	ENST00000359600.5	37	c.1781	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704703	0.48412	.	.	ENSG00000162415	ENST00000359600	T	0.44083	0.93	5.18	5.18	0.71444	.	0.142736	0.64402	D	0.000007	T	0.39009	0.1062	L	0.40543	1.245	0.46396	D	0.999027	B	0.17465	0.022	B	0.18561	0.022	T	0.10753	-1.0616	10	0.34782	T	0.22	-13.2346	19.5913	0.95511	0.0:0.0:1.0:0.0	.	594	Q9P217	ZSWM5_HUMAN	I	594	ENSP00000352614:T594I	ENSP00000352614:T594I	T	-	2	0	ZSWIM5	45277308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.436000	0.66538	2.813000	0.96785	0.655000	0.94253	ACC	ZSWIM5	-	NULL	ENSG00000162415		0.512	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	-	0.00	11	0	G	XM_046581		45504721	-1	tier1	-	no_errors	ENST00000359600	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A
