#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
ABCA1	19	genome.wustl.edu	37	9	107589326	107589326	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:107589326G>A	ENST00000374736.3	-	16	2634	c.2240C>T	c.(2239-2241)gCa>gTa	p.A747V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	747					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCCACAGGCTGCTGCCAGGTT	0.557																																																	0													142.0	120.0	127.0					9																	107589326		2203	4300	6503	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2240C>T	9.37:g.107589326G>A	ENSP00000363868:p.Ala747Val		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A747V	ENST00000374736.3	37	c.2240	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.606831	0.96626	.	.	ENSG00000165029	ENST00000374736	D	0.95272	-3.66	5.3	5.3	0.74995	.	0.052094	0.85682	D	0.000000	D	0.97126	0.9061	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97426	1.0012	10	0.62326	D	0.03	.	18.9548	0.92654	0.0:0.0:1.0:0.0	.	747	O95477	ABCA1_HUMAN	V	747	ENSP00000363868:A747V	ENSP00000363868:A747V	A	-	2	0	ABCA1	106629147	1.000000	0.71417	0.963000	0.40424	0.982000	0.71751	9.869000	0.99810	2.468000	0.83385	0.655000	0.94253	GCA	ABCA1	-	NULL	ENSG00000165029		0.557	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0.00	78	0	G	NM_005502		107589326	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A
ACADL	33	genome.wustl.edu	37	2	211070382	211070382	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:211070382G>T	ENST00000233710.3	-	6	969	c.742C>A	c.(742-744)Cta>Ata	p.L248I	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	248					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATTTTATGTAGCTTTCGTCCC	0.388																																																	0													134.0	125.0	128.0					2																	211070382		2203	4300	6503	SO:0001583	missense	0			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.742C>A	2.37:g.211070382G>T	ENSP00000233710:p.Leu248Ile		B2R8T3|Q8IUN8	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.L248I	ENST00000233710.3	37	c.742	CCDS2389.1	2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241110	0.79912	.	.	ENSG00000115361	ENST00000233710	D	0.98968	-5.28	5.28	3.47	0.39725	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.148616	0.46442	D	0.000287	D	0.97939	0.9322	L	0.39692	1.235	0.54753	D	0.999982	D	0.65815	0.995	P	0.60682	0.878	D	0.97787	1.0236	10	0.66056	D	0.02	.	10.9836	0.47510	0.1503:0.0:0.8497:0.0	.	248	P28330	ACADL_HUMAN	I	248	ENSP00000233710:L248I	ENSP00000233710:L248I	L	-	1	2	ACADL	210778627	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.146000	0.64845	1.234000	0.43709	0.655000	0.94253	CTA	ACADL	-	superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000115361		0.388	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2	-	0.00	75	0	G	NM_001608		211070382	-1	tier1	-	no_errors	ENST00000233710	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
ACTN1	87	genome.wustl.edu	37	14	69376683	69376683	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:69376683G>T	ENST00000193403.6	-	5	887	c.504C>A	c.(502-504)aaC>aaA	p.N168K	ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.N168K|ACTN1_ENST00000438964.2_Missense_Mutation_p.N168K|ACTN1_ENST00000538545.2_Missense_Mutation_p.N168K|ACTN1_ENST00000376839.3_Missense_Mutation_p.N103K	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	168	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTATGTGGAAGTTCTGGATGT	0.582																																																	0													107.0	100.0	102.0					14																	69376683		2203	4300	6503	SO:0001583	missense	0			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.504C>A	14.37:g.69376683G>T	ENSP00000193403:p.Asn168Lys		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.N168K	ENST00000193403.6	37	c.504	CCDS9792.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186709	0.78789	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433;ENST00000553370	T;T;T;T;T;T;T;D	0.96745	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-4.11	5.69	3.88	0.44766	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.996;1.0	D;D;D;D	0.91635	0.981;0.998;0.972;0.999	D	0.98633	1.0672	10	0.87932	D	0	.	12.6602	0.56809	0.1339:0.0:0.8661:0.0	.	168;168;168;168	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	K	168;168;168;103;168;103;147;103	ENSP00000193403:N168K;ENSP00000377941:N168K;ENSP00000414272:N168K;ENSP00000366035:N103K;ENSP00000439828:N168K;ENSP00000450903:N103K;ENSP00000450764:N147K;ENSP00000450925:N103K	ENSP00000193403:N168K	N	-	3	2	ACTN1	68446436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.861000	0.48380	0.878000	0.35920	0.655000	0.94253	AAC	ACTN1	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000072110		0.582	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	-	0.00	91	0	G	NM_001102		69376683	-1	tier1	-	no_errors	ENST00000394419	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
ACTR6	64431	genome.wustl.edu	37	12	100617641	100617641	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:100617641A>G	ENST00000188312.2	+	11	1904	c.1139A>G	c.(1138-1140)gAa>gGa	p.E380G	ACTR6_ENST00000546902.1_Missense_Mutation_p.E298G|ACTR6_ENST00000551617.1_Missense_Mutation_p.E278G|ACTR6_ENST00000552376.1_Missense_Mutation_p.E360G	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	380						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GTAACAAGAGAAGATTACGAA	0.318																																																	0													124.0	126.0	126.0					12																	100617641		2203	4300	6503	SO:0001583	missense	0			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1139A>G	12.37:g.100617641A>G	ENSP00000188312:p.Glu380Gly		B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.E380G	ENST00000188312.2	37	c.1139	CCDS9074.1	12	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826231	0.71143	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.95035	-3.59;-3.59;2.96;2.96	5.95	5.95	0.96441	.	0.047910	0.85682	D	0.000000	D	0.92854	0.7727	M	0.64997	1.995	0.80722	D	1	P;B;B	0.35348	0.496;0.152;0.101	B;B;B	0.30401	0.115;0.058;0.096	D	0.92816	0.6268	10	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	278;360;380	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	G	380;298;360;278	ENSP00000188312:E380G;ENSP00000448669:E298G;ENSP00000447237:E360G;ENSP00000448356:E278G	ENSP00000188312:E380G	E	+	2	0	ACTR6	99141772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.759000	0.91667	2.279000	0.76181	0.533000	0.62120	GAA	ACTR6	-	pfam_Actin-related,smart_Actin-related	ENSG00000075089		0.318	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1		0.00	86	0	A	NM_022496		100617641	+1			no_errors	ENST00000188312	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	G
ADAMDEC1	27299	genome.wustl.edu	37	8	24257686	24257686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:24257686delA	ENST00000256412.4	+	11	1235	c.1015delA	c.(1015-1017)aaafs	p.K341fs	ADAMDEC1_ENST00000538205.1_Frame_Shift_Del_p.K262fs|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Frame_Shift_Del_p.K262fs	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	341	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTTCCAGGCTAAAAAAAAGAA	0.358																																					Ovarian(147;687 1849 3699 25981 31337)												0													54.0	49.0	51.0					8																	24257686		2203	4300	6503	SO:0001589	frameshift_variant	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1015delA	8.37:g.24257686delA	ENSP00000256412:p.Lys341fs		B7ZAK5	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.K341fs	ENST00000256412.4	37	c.1015	CCDS6044.1	8																																																																																			ADAMDEC1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134028		0.358	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2		0.00	88	0	A	NM_014479		24257686	+1	tier1		no_errors	ENST00000256412	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.044	-
ADAMTSL1	92949	genome.wustl.edu	37	9	18892502	18892502	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:18892502G>A	ENST00000380548.4	+	26	5098	c.4759G>A	c.(4759-4761)Gac>Aac	p.D1587N	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.D288N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1587	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGTGTCCAATGACATGTGCAC	0.632																																																	0													19.0	22.0	21.0					9																	18892502		1948	4134	6082	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4759G>A	9.37:g.18892502G>A	ENSP00000369921:p.Asp1587Asn		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.D288N	ENST00000380548.4	37	c.862	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360514	0.41801	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.51817	0.69;0.69	5.49	5.49	0.81192	.	0.218996	0.39909	N	0.001236	T	0.46908	0.1417	N	0.25094	0.71	0.46298	D	0.99897	P;P	0.48998	0.634;0.918	B;P	0.52386	0.167;0.697	T	0.20538	-1.0272	10	0.14252	T	0.57	.	19.3798	0.94527	0.0:0.0:1.0:0.0	.	288;1587	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	N	1587;288;291	ENSP00000369921:D1587N;ENSP00000369918:D288N	ENSP00000325584:D291N	D	+	1	0	ADAMTSL1	18882502	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	7.047000	0.76599	2.589000	0.87451	0.555000	0.69702	GAC	ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.632	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0.00	85	0	G			18892502	+1	tier1	-	no_errors	ENST00000380545	ensembl	human	putative	74_37	missense	33.33	58	29	SNP	1.000	A
AJAP1	55966	genome.wustl.edu	37	1	4832541	4832541	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:4832541G>A	ENST00000378191.4	+	4	1500	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	AJAP1_ENST00000378190.3_Silent_p.L373L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	373	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATGAGACGCTGCACTCGACGA	0.572																																																	0													59.0	56.0	57.0					1																	4832541		2203	4300	6503	SO:0001819	synonymous_variant	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1119G>A	1.37:g.4832541G>A			Q9Y229	Silent	SNP	NULL	p.L373	ENST00000378191.4	37	c.1119	CCDS54.1	1																																																																																			AJAP1	-	NULL	ENSG00000196581		0.572	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3		0.00	43	0	G	NM_018836		4832541	+1			no_errors	ENST00000378190	ensembl	human	known	74_37	silent	6.00	47	3	SNP	1.000	A
ALDH5A1	7915	genome.wustl.edu	37	6	24503570	24503570	+	Missense_Mutation	SNP	G	G	T	rs369366567	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:24503570G>T	ENST00000357578.3	+	3	663	c.518G>T	c.(517-519)cGt>cTt	p.R173L	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R145L|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R85L|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R173L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	173					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.R173H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GAAGCCCGCCGTGTTTACGGA	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											45.0	45.0	45.0					6																	24503570		2203	4300	6503	SO:0001583	missense	0			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.518G>T	6.37:g.24503570G>T	ENSP00000350191:p.Arg173Leu		B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	p.R173L	ENST00000357578.3	37	c.518	CCDS4555.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656163	0.88056	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91094	0.4909	10	0.87932	D	0	-2.9642	18.9912	0.92793	0.0:0.0:1.0:0.0	.	173;173	P51649;G5E949	SSDH_HUMAN;.	L	173;85;145;173	ENSP00000350191:R173L;ENSP00000438193:R85L;ENSP00000417687:R145L;ENSP00000314649:R173L	ENSP00000314649:R173L	R	+	2	0	ALDH5A1	24611549	1.000000	0.71417	0.962000	0.40283	0.478000	0.33099	6.304000	0.72800	2.708000	0.92522	0.650000	0.86243	CGT	ALDH5A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	ENSG00000112294		0.532	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH5A1	HGNC	protein_coding	OTTHUMT00000040007.2		0.00	38	0	G			24503570	+1			no_errors	ENST00000348925	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
ALG9	79796	genome.wustl.edu	37	11	111711514	111711514	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:111711514G>T	ENST00000531154.1	-	10	996	c.524C>A	c.(523-525)cCg>cAg	p.P175Q	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.P175Q	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	346					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAGCCAATACGGGTGGCCTAA	0.343																																																	0													115.0	113.0	114.0					11																	111711514		1836	4090	5926	SO:0001583	missense	0				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.524C>A	11.37:g.111711514G>T	ENSP00000435517:p.Pro175Gln		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.P175Q	ENST00000531154.1	37	c.524	CCDS41714.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.128628	0.94473	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.64085	-0.08;-0.08	5.52	5.52	0.82312	.	0.045449	0.85682	D	0.000000	T	0.78110	0.4232	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.97110	1.0;0.985;0.99;0.989	T	0.71530	-0.4565	10	0.11794	T	0.64	-10.9587	19.8024	0.96513	0.0:0.0:1.0:0.0	.	175;346;579;346	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	Q	175;175;579	ENSP00000435517:P175Q;ENSP00000381090:P175Q	ENSP00000381090:P175Q	P	-	2	0	ALG9	111216724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	CCG	ALG9	-	pfam_GPI_mannosylTrfase	ENSG00000086848		0.343	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	HGNC	protein_coding	OTTHUMT00000391485.1		0.00	86	0	G	NM_024740		111711514	-1			no_errors	ENST00000531154	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
ALOX12B	242	genome.wustl.edu	37	17	7976505	7976505	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:7976505C>T	ENST00000319144.4	-	14	2147	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	629	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGAGCACCAGCAGCGTGATGC	0.627										Multiple Myeloma(8;0.094)																																							0													160.0	148.0	152.0					17																	7976505		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1887G>A	17.37:g.7976505C>T				Silent	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.L629	ENST00000319144.4	37	c.1887	CCDS11129.1	17																																																																																			ALOX12B	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml	ENSG00000179477		0.627	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	-	0.00	45	0	C			7976505	-1	tier1	-	no_errors	ENST00000319144	ensembl	human	known	74_37	silent	39.29	17	11	SNP	0.093	T
ANKRD30A	91074	genome.wustl.edu	37	10	37430831	37430831	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:37430831T>G	ENST00000602533.1	+	7	937	c.838T>G	c.(838-840)Tct>Gct	p.S280A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.S280A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S280A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	336					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGAGGGAACATCTGACAAAAT	0.468																																																	0													70.0	70.0	70.0					10																	37430831		1880	4129	6009	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.838T>G	10.37:g.37430831T>G	ENSP00000473551:p.Ser280Ala		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S280A	ENST00000602533.1	37	c.838		10	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.472291	0.01044	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06687	3.27;3.27	0.675	-1.35	0.09114	.	.	.	.	.	T	0.06096	0.0158	L	0.40543	1.245	0.09310	N	1	B	0.28636	0.218	B	0.31946	0.138	T	0.46331	-0.9199	9	0.13470	T	0.59	.	4.2931	0.10888	0.0:0.5393:0.0:0.4607	.	336	Q9BXX3	AN30A_HUMAN	A	280	ENSP00000354432:S280A;ENSP00000363792:S280A	ENSP00000354432:S280A	S	+	1	0	ANKRD30A	37470837	0.705000	0.27846	0.001000	0.08648	0.003000	0.03518	-0.467000	0.06664	-0.942000	0.03695	-0.788000	0.03338	TCT	ANKRD30A	-	NULL	ENSG00000148513		0.468	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0.00	161	0	T	NM_052997		37430831	+1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	8.66	116	11	SNP	0.001	G
ANK3	288	genome.wustl.edu	37	10	62149194	62149194	+	Missense_Mutation	SNP	G	G	A	rs139879505		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:62149194G>A	ENST00000280772.2	-	1	294	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	35					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTTCTTCCGATCCCGGGAC	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19133	0.0		0.0	False		,,,				2504	0.0																0								G	,,TRP/ARG	4,4400	8.1+/-20.4	0,4,2198	157.0	148.0	151.0		,,103	6.0	1.0	10	dbSNP_134	151	0,8600		0,0,4300	no	intron,intron,missense	ANK3	NM_001204403.1,NM_001204404.1,NM_020987.3	,,101	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	,,probably-damaging	,,35/4378	62149194	4,13000	2202	4300	6502	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.103C>T	10.37:g.62149194G>A	ENSP00000280772:p.Arg35Trp		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R35W	ENST00000280772.2	37	c.103	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451289	0.63290	9.08E-4	0.0	ENSG00000151150	ENST00000280772	T	0.65732	-0.17	5.96	5.96	0.96718	.	0.000000	0.30869	U	0.008712	T	0.60170	0.2248	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	T	0.67538	-0.5645	10	0.87932	D	0	.	14.2691	0.66140	0.0:0.0:0.8514:0.1486	.	35	Q12955	ANK3_HUMAN	W	35	ENSP00000280772:R35W	ENSP00000280772:R35W	R	-	1	2	ANK3	61819200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.516000	0.67055	2.832000	0.97577	0.655000	0.94253	CGG	ANK3	-	NULL	ENSG00000151150		0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0.00	32	0	G	NM_020987		62149194	-1	tier1	rs139879505	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	A
ANKS6	203286	genome.wustl.edu	37	9	101518740	101518740	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:101518740C>T	ENST00000353234.4	-	12	2335	c.2288G>A	c.(2287-2289)aGc>aAc	p.S763N	ANKS6_ENST00000375019.2_Missense_Mutation_p.S462N|ANKS6_ENST00000540940.1_Missense_Mutation_p.S568N|ANKS6_ENST00000375018.1_Missense_Mutation_p.S764N			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	763	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCCCCCACTGCTCTTGGACTG	0.602																																																	0													88.0	89.0	89.0					9																	101518740		2058	4199	6257	SO:0001583	missense	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2288G>A	9.37:g.101518740C>T	ENSP00000297837:p.Ser763Asn		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S764N	ENST00000353234.4	37	c.2291	CCDS43856.1	9	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803383	0.70682	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.71461	1.66;-0.57;-0.57;1.91	5.27	5.27	0.74061	.	0.082256	0.85682	D	0.000000	T	0.66963	0.2843	L	0.55481	1.735	0.44880	D	0.997898	B;B	0.34329	0.449;0.321	B;B	0.31614	0.133;0.063	T	0.71056	-0.4703	10	0.72032	D	0.01	-15.0294	16.377	0.83409	0.0:1.0:0.0:0.0	.	764;763	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	N	462;764;763;568	ENSP00000364159:S462N;ENSP00000364158:S764N;ENSP00000297837:S763N;ENSP00000442189:S568N	ENSP00000297837:S763N	S	-	2	0	ANKS6	100558561	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.145000	0.77365	2.478000	0.83669	0.484000	0.47621	AGC	ANKS6	-	NULL	ENSG00000165138		0.602	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1		0.00	63	0	C	NM_173551		101518740	-1			no_errors	ENST00000375018	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112177096	112177096	+	Silent	SNP	G	G	A	rs377040690		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:112177096G>A	ENST00000457016.1	+	16	6185	c.5805G>A	c.(5803-5805)caG>caA	p.Q1935Q	APC_ENST00000257430.4_Silent_p.Q1935Q|APC_ENST00000508376.2_Silent_p.Q1935Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1935	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTTTTCCCCAGTCATCCAAAG	0.408		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)						G	,,	0,4404		0,0,2202	115.0	104.0	108.0		5805,5805,5751	5.1	1.0	5		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,	1935/2844,1935/2844,1917/2826	112177096	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5805G>A	5.37:g.112177096G>A			D3DT03|Q15162|Q15163|Q93042	Silent	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q1935	ENST00000457016.1	37	c.5805	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0.00	29	0	G	NM_000038		112177096	+1			no_errors	ENST00000257430	ensembl	human	known	74_37	silent	11.11	16	2	SNP	0.997	A
APCDD1	147495	genome.wustl.edu	37	18	10487667	10487667	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr18:10487667G>T	ENST00000355285.5	+	5	1531	c.1177G>T	c.(1177-1179)Gag>Tag	p.E393*		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GTGCGGGGCCGAGGGCTCCTG	0.582																																																	0													73.0	67.0	69.0					18																	10487667		2203	4300	6503	SO:0001587	stop_gained	0			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1177G>T	18.37:g.10487667G>T	ENSP00000347433:p.Glu393*			Nonsense_Mutation	SNP	NULL	p.E393*	ENST00000355285.5	37	c.1177	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	G	38	6.936328	0.97948	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	.	.	.	5.19	4.31	0.51392	.	0.240310	0.43919	D	0.000513	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-33.0213	15.4986	0.75677	0.0:0.2785:0.7215:0.0	.	.	.	.	X	393;444	.	ENSP00000347433:E393X	E	+	1	0	APCDD1	10477667	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	4.390000	0.59646	1.289000	0.44618	-0.175000	0.13238	GAG	APCDD1	-	NULL	ENSG00000154856		0.582	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	HGNC	protein_coding	OTTHUMT00000254529.2	-	0.00	37	0	G	NM_153000		10487667	+1	tier1	-	no_errors	ENST00000355285	ensembl	human	known	74_37	nonsense	13.04	20	3	SNP	0.965	T
ARHGAP5	394	genome.wustl.edu	37	14	32563069	32563069	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:32563069G>T	ENST00000345122.3	+	2	3509	c.3194G>T	c.(3193-3195)gGt>gTt	p.G1065V	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G1065V|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G1065V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G1065V|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1065					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTGAAGCTGGTATTGGTAAA	0.398																																					NSCLC(9;77 350 3443 29227 41353)												0													53.0	55.0	54.0					14																	32563069		2202	4298	6500	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3194G>T	14.37:g.32563069G>T	ENSP00000371897:p.Gly1065Val		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.G1065V	ENST00000345122.3	37	c.3194	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527247	0.64860	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.47716	1.5	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.60609	0.877;0.757	T	0.00116	-1.2036	10	0.41790	T	0.15	.	19.9348	0.97133	0.0:0.0:1.0:0.0	.	1065;1065	Q13017-2;Q13017	.;RHG05_HUMAN	V	1065	ENSP00000452222:G1065V;ENSP00000441692:G1065V;ENSP00000371897:G1065V;ENSP00000393307:G1065V	ENSP00000371897:G1065V	G	+	2	0	ARHGAP5	31632820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.789000	0.95967	0.591000	0.81541	GGT	ARHGAP5	-	NULL	ENSG00000100852		0.398	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0.00	112	0	G	NM_001030055		32563069	+1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
ARL4C	10123	genome.wustl.edu	37	2	235405123	235405123	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:235405123G>A	ENST00000390645.2	-	1	574	c.108C>T	c.(106-108)aaC>aaT	p.N36N	ARL4C_ENST00000339728.3_Silent_p.N36N	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	36					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		TCACGAACTCGTTGAACTTGA	0.582																																					Esophageal Squamous(157;1837 2534 13028 22831)												0													80.0	88.0	86.0					2																	235405123		2091	4230	6321	SO:0001819	synonymous_variant	0			AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.108C>T	2.37:g.235405123G>A			Q4A519|Q53R10|Q9BVN1|Q9UQ34	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.N36	ENST00000390645.2	37	c.108	CCDS2512.1	2																																																																																			ARL4C	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000188042		0.582	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL4C	HGNC	protein_coding	OTTHUMT00000257073.1	-	0.00	64	0	G			235405123	-1	tier1	-	no_errors	ENST00000339728	ensembl	human	known	74_37	silent	26.67	55	20	SNP	1.000	A
ASTN2	23245	genome.wustl.edu	37	9	119739005	119739005	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:119739005G>A	ENST00000313400.4	-	8	1751	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R500C|ASTN2_ENST00000373996.3_Missense_Mutation_p.R551C			O75129	ASTN2_HUMAN	astrotactin 2	551					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGTCACTGCGCACACACAGG	0.507																																																	0													111.0	89.0	96.0					9																	119739005		2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1651C>T	9.37:g.119739005G>A	ENSP00000314038:p.Arg551Cys		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.R551C	ENST00000313400.4	37	c.1651		9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219085	0.79464	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.25250	1.92;1.92;1.81;2.0	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.993;0.999	T	0.05582	-1.0876	9	.	.	.	-23.3294	20.0795	0.97766	0.0:0.0:1.0:0.0	.	500;551;551	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	551;551;278;500	ENSP00000314038:R551C;ENSP00000363108:R551C;ENSP00000363098:R278C;ENSP00000354504:R500C	.	R	-	1	0	ASTN2	118778826	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.479000	0.81095	2.747000	0.94245	0.650000	0.86243	CGC	ASTN2	-	NULL	ENSG00000148219		0.507	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0.00	112	0	G	NM_014010		119739005	-1	tier1	-	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	16.67	65	13	SNP	1.000	A
ASB6	140459	genome.wustl.edu	37	9	132400455	132400455	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:132400455C>A	ENST00000277458.4	-	6	1045	c.880G>T	c.(880-882)Gcg>Tcg	p.A294S	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.A215S|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	294					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAGCAGGACGCACCGTGCAGG	0.597																																																	0													59.0	55.0	56.0					9																	132400455		2203	4300	6503	SO:0001583	missense	0				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.880G>T	9.37:g.132400455C>A	ENSP00000277458:p.Ala294Ser		Q5SZB7|Q9BV15	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.A294S	ENST00000277458.4	37	c.880	CCDS6924.1	9	.	.	.	.	.	.	.	.	.	.	C	8.228	0.803989	0.16467	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.80480	-1.38;-1.38	4.65	-0.0788	0.13713	.	0.520768	0.21464	N	0.074108	T	0.67505	0.2900	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23316	0.034;0.083;0.034	B;B;B	0.24848	0.01;0.056;0.01	T	0.60449	-0.7261	10	0.62326	D	0.03	-13.6426	16.7971	0.85605	0.0:0.2394:0.7606:0.0	.	215;294;294	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	S	294;215	ENSP00000277458:A294S;ENSP00000416172:A215S	ENSP00000277458:A294S	A	-	1	0	ASB6	131440276	0.907000	0.30839	0.004000	0.12327	0.311000	0.27955	1.675000	0.37555	0.117000	0.18138	0.462000	0.41574	GCG	ASB6	-	NULL	ENSG00000148331		0.597	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB6	HGNC	protein_coding	OTTHUMT00000054594.1	-	0.00	50	0	C	NM_017873		132400455	-1	tier1	-	no_errors	ENST00000277458	ensembl	human	known	74_37	missense	50.00	12	12	SNP	0.049	A
BAZ2B	29994	genome.wustl.edu	37	2	160242961	160242961	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:160242961A>C	ENST00000392783.2	-	22	3869	c.3374T>G	c.(3373-3375)tTg>tGg	p.L1125W	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1091W|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1025W|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1089W	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1125	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATATTTAGCAATCCCTCTTG	0.433																																																	0													110.0	100.0	103.0					2																	160242961		1882	4123	6005	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3374T>G	2.37:g.160242961A>C	ENSP00000376534:p.Leu1125Trp		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	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,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,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.L1125W	ENST00000392783.2	37	c.3374	CCDS2209.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.774355|4.774355	0.90108|0.90108	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|T;T;T;T	.|0.79141	.|-1.24;-1.19;-1.24;-1.19	6.08|6.08	6.08|6.08	0.98989|0.98989	.|DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.|0.000000	.|0.30464	.|U	.|0.009562	D|D	0.88062|0.88062	0.6336|0.6336	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.89133|0.89133	0.3511|0.3511	5|10	.|0.87932	.|D	.|0	-5.802|-5.802	16.6512|16.6512	0.85203|0.85203	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1089;1125	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	M|W	185|1089;1125;1091;1025	.|ENSP00000376533:L1089W;ENSP00000376534:L1125W;ENSP00000348087:L1091W;ENSP00000339670:L1025W	.|ENSP00000339670:L1025W	I|L	-|-	3|2	3|0	BAZ2B|BAZ2B	159951207|159951207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	ATT|TTG	BAZ2B	-	pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily	ENSG00000123636		0.433	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0.00	63	0	A			160242961	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	30.88	47	21	SNP	1.000	C
BOLL	66037	genome.wustl.edu	37	2	198650819	198650819	+	5'Flank	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:198650819T>A	ENST00000392296.4	-	0	0				BOLL_ENST00000430004.1_5'Flank|BOLL_ENST00000486206.1_5'UTR|BOLL_ENST00000433157.1_5'Flank|BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000321801.7_5'UTR	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein						cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CTGCTTGTCCTGCCTGGGACT	0.642																																																	0													31.0	33.0	32.0					2																	198650819		692	1591	2283	SO:0001631	upstream_gene_variant	0				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747		2.37:g.198650819T>A	Exception_encountered		B4DZA4|Q0JW32|Q53T62|Q969U3	RNA	SNP	-	NULL	ENST00000392296.4	37	NULL	CCDS2325.1	2																																																																																			BOLL	-	-	ENSG00000152430		0.642	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	-	0.00	70	0	T	NM_033030		198650819	-1	tier1	-	no_errors	ENST00000486206	ensembl	human	known	74_37	rna	19.23	42	10	SNP	0.610	A
BRAF	673	genome.wustl.edu	37	7	140454022	140454022	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:140454022G>T	ENST00000288602.6	-	14	1766	c.1706C>A	c.(1705-1707)gCc>gAc	p.A569D		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GATTGACTTGGCGTGTAAGTA	0.393		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													156.0	151.0	153.0					7																	140454022		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1706C>A	7.37:g.140454022G>T	ENSP00000288602:p.Ala569Asp		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.A569D	ENST00000288602.6	37	c.1706	CCDS5863.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.941859|4.941859	0.92526|0.92526	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.98862|.	-5.19|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.097638|.	0.64402|.	D|.	0.000001|.	T|T	0.54303|0.54303	0.1850|0.1850	N|N	0.20766|0.20766	0.605|0.605	0.80722|0.80722	D|D	1|1	P|.	0.36438|.	0.553|.	B|.	0.40101|.	0.319|.	T|T	0.48681|0.48681	-0.9014|-0.9014	10|5	0.87932|.	D|.	0|.	.|.	19.2584|19.2584	0.93957|0.93957	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	569|.	P15056|.	BRAF_HUMAN|.	D|T	569|177	ENSP00000288602:A569D|.	ENSP00000288602:A569D|.	A|P	-|-	2|1	0|0	BRAF|BRAF	140100491|140100491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.658000|9.658000	0.98594|0.98594	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GCC|CCA	BRAF	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000157764		0.393	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	-	0.00	56	0	G	NM_004333		140454022	-1	tier1	-	no_errors	ENST00000288602	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
BRCA2	675	genome.wustl.edu	37	13	32912071	32912071	+	Silent	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:32912071T>A	ENST00000380152.3	+	11	3812	c.3579T>A	c.(3577-3579)gcT>gcA	p.A1193A	BRCA2_ENST00000544455.1_Silent_p.A1193A			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1193					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGAAGTTTGCTGGCCTGTTGA	0.403			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													85.0	88.0	87.0					13																	32912071		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3579T>A	13.37:g.32912071T>A			O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.A1193	ENST00000380152.3	37	c.3579	CCDS9344.1	13																																																																																			BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.403	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0.00	62	0	T	NM_000059		32912071	+1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.000	A
BRD1	23774	genome.wustl.edu	37	22	50192241	50192241	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr22:50192241C>T	ENST00000216267.8	-	4	2236	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	BRD1_ENST00000404034.1_Missense_Mutation_p.A584T|BRD1_ENST00000342989.5_Missense_Mutation_p.A179T|BRD1_ENST00000404760.1_Missense_Mutation_p.A584T|BRD1_ENST00000457780.2_Missense_Mutation_p.A584T|BRD1_ENST00000542442.1_Missense_Mutation_p.A277T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	584	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AATATCCTGGCGGGGTCCTTG	0.632																																																	0													77.0	68.0	71.0					22																	50192241		2203	4300	6503	SO:0001583	missense	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1750G>A	22.37:g.50192241C>T	ENSP00000216267:p.Ala584Thr		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.A584T	ENST00000216267.8	37	c.1750	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123083	0.77436	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	4.96	4.96	0.65561	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.76575	0.988;0.905;0.968;0.98	T	0.57435	-0.7812	10	0.16896	T	0.51	.	18.196	0.89822	0.0:1.0:0.0:0.0	.	584;179;584;584	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	584;584;584;584;277;179;44	ENSP00000216267:A584T;ENSP00000384076:A584T;ENSP00000385858:A584T;ENSP00000410042:A584T;ENSP00000437514:A277T;ENSP00000345886:A179T	ENSP00000216267:A584T	A	-	1	0	BRD1	48578245	0.997000	0.39634	0.967000	0.41034	0.840000	0.47671	3.754000	0.55189	2.316000	0.78162	0.655000	0.94253	GCC	BRD1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000100425		0.632	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	-	0.00	78	0	C	NM_014577		50192241	-1	tier1	-	no_errors	ENST00000216267	ensembl	human	known	74_37	missense	12.37	85	12	SNP	1.000	T
BZW2	28969	genome.wustl.edu	37	7	16737803	16737803	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:16737803T>C	ENST00000433922.2	+	10	1278	c.1100T>C	c.(1099-1101)tTt>tCt	p.F367S	AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000405202.1_Missense_Mutation_p.F291S|BZW2_ENST00000407633.1_Missense_Mutation_p.F173S|BZW2_ENST00000258761.3_Missense_Mutation_p.F367S	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	367	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		GTGGTTCTCTTTTATAAAGGT	0.493																																																	0													151.0	149.0	150.0					7																	16737803		2203	4300	6503	SO:0001583	missense	0			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.1100T>C	7.37:g.16737803T>C	ENSP00000397249:p.Phe367Ser		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.F367S	ENST00000433922.2	37	c.1100	CCDS5362.1	7	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591731	0.86953	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	6.17	6.17	0.99709	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89476	0.6726	M	0.91663	3.23	0.80722	D	1	P;P	0.41748	0.761;0.761	P;P	0.45449	0.481;0.481	D	0.91257	0.5034	10	0.87932	D	0	-15.4519	16.8222	0.85835	0.0:0.0:0.0:1.0	.	367;367	E7ETZ4;Q9Y6E2	.;BZW2_HUMAN	S	367;367;367;291;173	ENSP00000403481:F367S;ENSP00000258761:F367S;ENSP00000397249:F367S;ENSP00000385577:F291S;ENSP00000384617:F173S	ENSP00000258761:F367S	F	+	2	0	BZW2	16704328	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTT	BZW2	-	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	ENSG00000136261		0.493	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	-	0.00	33	0	T	NM_014038		16737803	+1	tier1	-	no_errors	ENST00000258761	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	C
C14orf105	55195	genome.wustl.edu	37	14	57960297	57960297	+	Nonsense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:57960297G>C	ENST00000216445.3	-	1	273	c.137C>G	c.(136-138)tCa>tGa	p.S46*	C14orf105_ENST00000534126.1_Nonsense_Mutation_p.S46*|C14orf105_ENST00000526336.1_Nonsense_Mutation_p.S46*|C14orf105_ENST00000422976.2_Nonsense_Mutation_p.S46*	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	46										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCTTGCCAGTGAATATGAAGT	0.433																																																	0													125.0	126.0	126.0					14																	57960297		2203	4300	6503	SO:0001587	stop_gained	0			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.137C>G	14.37:g.57960297G>C	ENSP00000216445:p.Ser46*		Q53G04	Nonsense_Mutation	SNP	NULL	p.S46*	ENST00000216445.3	37	c.137	CCDS9730.1	14	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234154	0.39498	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	.	.	.	4.88	-0.161	0.13371	.	0.957558	0.08612	N	0.919779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.1314	8.6927	0.34275	0.4162:0.0:0.5838:0.0	.	.	.	.	X	46	.	ENSP00000216445:S46X	S	-	2	0	C14orf105	57030050	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.065000	0.14466	-0.256000	0.09473	-0.252000	0.11476	TCA	C14orf105	-	NULL	ENSG00000100557		0.433	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C14orf105	HGNC	protein_coding	OTTHUMT00000276921.2	-	0.00	70	0	G	NM_018168		57960297	-1	tier1	-	no_errors	ENST00000216445	ensembl	human	known	74_37	nonsense	24.24	25	8	SNP	0.000	C
C1orf106	55765	genome.wustl.edu	37	1	200878412	200878412	+	Silent	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:200878412T>C	ENST00000367342.4	+	8	1301	c.1101T>C	c.(1099-1101)ccT>ccC	p.P367P	C1orf106_ENST00000413687.2_Silent_p.P282P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	367										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TTCTGGAGCCTGCCTCCTACC	0.642																																																	0													34.0	36.0	35.0					1																	200878412		2203	4299	6502	SO:0001819	synonymous_variant	0			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1101T>C	1.37:g.200878412T>C			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	pfam_DUF3338	p.P367	ENST00000367342.4	37	c.1101		1																																																																																			C1orf106	-	NULL	ENSG00000163362		0.642	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2		0.00	87	0	T	NM_018265		200878412	+1			no_errors	ENST00000367342	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.000	C
C3AR1	719	genome.wustl.edu	37	12	8212595	8212595	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:8212595G>T	ENST00000307637.4	-	2	390	c.187C>A	c.(187-189)Cac>Aac	p.H63N		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	63					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AAGGTGAGGTGGAGGAACCAA	0.577																																																	0													107.0	88.0	94.0					12																	8212595		2203	4300	6503	SO:0001583	missense	0			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.187C>A	12.37:g.8212595G>T	ENSP00000302079:p.His63Asn		O43771|Q92868	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2	p.H63N	ENST00000307637.4	37	c.187	CCDS8588.1	12	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696422	0.30142	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.28069	1.63;1.63	5.8	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.075475	0.48286	D	0.000192	T	0.10981	0.0268	N	0.02192	-0.645	0.29448	N	0.858706	B	0.25272	0.122	B	0.25884	0.064	T	0.30504	-0.9976	10	0.02654	T	1	.	11.8218	0.52242	0.0:0.0:0.5369:0.4631	.	63	Q16581	C3AR_HUMAN	N	63	ENSP00000302079:H63N;ENSP00000444500:H63N	ENSP00000302079:H63N	H	-	1	0	C3AR1	8103862	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.924000	0.48876	0.721000	0.32231	0.585000	0.79938	CAC	C3AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171860		0.577	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	HGNC	protein_coding	OTTHUMT00000400254.1	-	0.00	77	0	G			8212595	-1	tier1	-	no_errors	ENST00000307637	ensembl	human	known	74_37	missense	40.48	25	17	SNP	0.993	T
CACNA2D2	9254	genome.wustl.edu	37	3	50405617	50405617	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:50405617T>C	ENST00000479441.1	-	25	2115	c.2116A>G	c.(2116-2118)Aaa>Gaa	p.K706E	XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.K699E|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.K706E|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.K630E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.K699E|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.K706E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.K699E|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.K699E|XXcos-LUCA11.4_ENST00000606665.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	706					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATAAAGTTTTTCAGGAACTCG	0.577																																																	0													163.0	148.0	153.0					3																	50405617		2203	4300	6503	SO:0001583	missense	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2116A>G	3.37:g.50405617T>C	ENSP00000418081:p.Lys706Glu		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K706E	ENST00000479441.1	37	c.2116	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	T	7.391	0.630744	0.14322	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.05319	3.47;3.46;3.46;3.46;3.47;3.46;3.46;3.47	5.28	2.79	0.32731	.	0.468130	0.22862	N	0.054736	T	0.01287	0.0042	N	0.00707	-1.245	0.29206	N	0.8749	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.46610	-0.9179	10	0.02654	T	1	-13.4501	2.9658	0.05907	0.0:0.2417:0.2272:0.5311	.	706;699	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	E	706;699;699;630;706;699;699;706	ENSP00000407393:K706E;ENSP00000404631:K699E;ENSP00000266039:K699E;ENSP00000354228:K630E;ENSP00000390526:K706E;ENSP00000378519:K699E;ENSP00000390329:K699E;ENSP00000418081:K706E	ENSP00000266039:K699E	K	-	1	0	CACNA2D2	50380621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.617000	0.61204	1.994000	0.58287	0.460000	0.39030	AAA	CACNA2D2	-	NULL	ENSG00000007402		0.577	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	-	0.00	39	0	T	NM_006030		50405617	-1	tier1	-	no_errors	ENST00000435965	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	C
CAPN5	726	genome.wustl.edu	37	11	76823745	76823745	+	Silent	SNP	C	C	T	rs369649104	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:76823745C>T	ENST00000278559.3	+	4	597	c.408C>T	c.(406-408)atC>atT	p.I136I	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.I136I|CAPN5_ENST00000456580.2_Silent_p.I176I	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	136	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACGTGGTCATCGATGACCGGC	0.582													C|||	5	0.000998403	0.0	0.0	5008	,	,		18105	0.0		0.0	False		,,,				2504	0.0051																0													108.0	84.0	92.0					11																	76823745		2200	4292	6492	SO:0001819	synonymous_variant	0				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.408C>T	11.37:g.76823745C>T			O00263	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.I136	ENST00000278559.3	37	c.408	CCDS8248.1	11																																																																																			CAPN5	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000149260		0.582	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN5	HGNC	protein_coding	OTTHUMT00000382564.2		0.00	71	0	C	NM_004055		76823745	+1			no_errors	ENST00000278559	ensembl	human	known	74_37	silent	8.47	54	5	SNP	0.915	T
RANBP3	8498	genome.wustl.edu	37	19	5915123	5915123	+	IGR	SNP	T	T	C	rs142947292		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:5915123T>C	ENST00000340578.6	-	0	3233				CAPS_ENST00000222125.5_Missense_Mutation_p.L145P|AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Missense_Mutation_p.L231P|CAPS_ENST00000452990.2_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CGCCGCTTCCTGGACAACTTC	0.711																																																	0								T	PRO/LEU,	0,4406		0,0,2203	84.0	73.0	76.0		434,	5.0	1.0	19	dbSNP_134	76	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron	CAPS	NM_004058.3,NM_080590.2	98,	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,	145/190,	5915123	1,13003	2203	4299	6502	SO:0001628	intergenic_variant	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5915123T>C			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.L145P	ENST00000340578.6	37	c.434	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406770	0.83230	0.0	1.16E-4	ENSG00000105519	ENST00000394521;ENST00000222125	T	0.73575	-0.76	5.02	5.02	0.67125	EF-hand-like domain (1);	0.109197	0.37219	N	0.002195	D	0.86896	0.6043	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88944	0.3382	10	0.72032	D	0.01	-14.3749	12.6709	0.56866	0.0:0.0:0.0:1.0	.	145	Q13938	CAYP1_HUMAN	P	278;145	ENSP00000222125:L145P	ENSP00000222125:L145P	L	+	2	0	CAPS	5866123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.707000	0.74654	1.873000	0.54277	0.454000	0.30748	CTG	CAPS	-	smart_EF_hand_dom	ENSG00000105519		0.711	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPS	HGNC	protein_coding	OTTHUMT00000452304.1		0.00	75	0	T	NM_007322		5915123	+1			no_errors	ENST00000222125	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C
CARD8	22900	genome.wustl.edu	37	19	48734143	48734143	+	Missense_Mutation	SNP	G	G	C	rs148708617	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:48734143G>C	ENST00000359009.4	-	5	660	c.348C>G	c.(346-348)gaC>gaG	p.D116E	CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Missense_Mutation_p.D221E|CARD8_ENST00000519940.1_Missense_Mutation_p.D221E|CARD8_ENST00000391898.3_Missense_Mutation_p.D221E|CARD8_ENST00000520753.1_Missense_Mutation_p.D221E|CARD8_ENST00000447740.2_Missense_Mutation_p.D171E|CARD8_ENST00000521613.1_Missense_Mutation_p.D171E|CARD8_ENST00000520153.1_Missense_Mutation_p.D171E			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	116					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GGTGCTGCAGGTCCAGGGCCA	0.597																																																	0													53.0	45.0	47.0					19																	48734143		2203	4300	6503	SO:0001583	missense	0			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.348C>G	19.37:g.48734143G>C	ENSP00000351901:p.Asp116Glu		B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.D221E	ENST00000359009.4	37	c.663		19	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898669	0.02472	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	1.7	-0.676	0.11361	.	.	.	.	.	T	0.09291	0.0229	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P;P;P;B	0.42757	0.649;0.789;0.789;0.789;0.75;0.597;0.597;0.245	B;B;B;B;B;B;B;B	0.40477	0.22;0.33;0.33;0.33;0.281;0.098;0.14;0.138	T	0.18493	-1.0335	9	0.11182	T	0.66	.	2.0191	0.03505	0.2086:0.0:0.4745:0.3169	.	140;221;221;154;221;171;116;116	B5KVR7;E9PEM7;B5KVR6;Q6MZI8;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;.;CARD8_HUMAN	E	171;221;116;221;171;221;171;221	ENSP00000391248:D171E;ENSP00000375767:D221E;ENSP00000351901:D116E;ENSP00000429839:D221E;ENSP00000428736:D171E;ENSP00000430747:D221E;ENSP00000427858:D171E;ENSP00000428883:D221E	ENSP00000351901:D116E	D	-	3	2	CARD8	53425955	0.001000	0.12720	0.003000	0.11579	0.080000	0.17528	-0.254000	0.08781	-0.130000	0.11599	0.655000	0.94253	GAC	CARD8	-	NULL	ENSG00000105483		0.597	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	HGNC	protein_coding		-	0.00	77	0	G	NM_014959		48734143	-1	tier1	-	no_errors	ENST00000391898	ensembl	human	known	74_37	missense	32.76	39	19	SNP	0.004	C
CASQ1	844	genome.wustl.edu	37	1	160163632	160163632	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:160163632C>A	ENST00000368078.3	+	3	656	c.460C>A	c.(460-462)Ctt>Att	p.L154I	CASQ1_ENST00000368079.3_Missense_Mutation_p.L148I			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	154					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAGTTTCTGCTTGATGTAAG	0.522																																																	0													244.0	197.0	213.0					1																	160163632		2203	4299	6502	SO:0001583	missense	0			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.460C>A	1.37:g.160163632C>A	ENSP00000357057:p.Leu154Ile		B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.L154I	ENST00000368078.3	37	c.460	CCDS1198.2	1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694484	0.48202	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.79940	-1.32;-1.32	3.94	3.94	0.45596	Thioredoxin-like fold (2);	0.226289	0.38548	N	0.001655	T	0.67692	0.2920	L	0.55213	1.73	0.35786	D	0.822009	B	0.21309	0.054	B	0.27262	0.078	T	0.67173	-0.5737	10	0.30854	T	0.27	.	15.3138	0.74056	0.0:1.0:0.0:0.0	.	154	P31415	CASQ1_HUMAN	I	148;154;69	ENSP00000357058:L148I;ENSP00000357057:L154I	ENSP00000357057:L154I	L	+	1	0	CASQ1	158430256	0.949000	0.32298	1.000000	0.80357	0.938000	0.57974	1.897000	0.39799	2.209000	0.71365	0.456000	0.33151	CTT	CASQ1	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000143318		0.522	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ1	HGNC	protein_coding	OTTHUMT00000077412.1	-	0.00	84	0	C	NM_001231		160163632	+1	tier1	-	no_errors	ENST00000368078	ensembl	human	known	74_37	missense	27.63	55	21	SNP	1.000	A
CBL	867	genome.wustl.edu	37	11	119169165	119169165	+	Silent	SNP	C	C	G	rs552509693		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:119169165C>G	ENST00000264033.4	+	15	2725	c.2349C>G	c.(2347-2349)gcC>gcG	p.A783A		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	783	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTGTGCCGGCCGTGCTGGCCC	0.552			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													80.0	76.0	77.0					11																	119169165		2199	4295	6494	SO:0001819	synonymous_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2349C>G	11.37:g.119169165C>G			A3KMP8	Silent	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.A783	ENST00000264033.4	37	c.2349	CCDS8418.1	11																																																																																			CBL	-	NULL	ENSG00000110395		0.552	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	-	0.00	96	0	C	NM_005188		119169165	+1	tier1	-	no_errors	ENST00000264033	ensembl	human	known	74_37	silent	54.72	24	29	SNP	0.011	G
CCDC141	285025	genome.wustl.edu	37	2	179702449	179702449	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179702449A>G	ENST00000420890.2	-	23	3614	c.3497T>C	c.(3496-3498)cTt>cCt	p.L1166P	CCDC141_ENST00000295723.5_Missense_Mutation_p.L591P|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1166										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GATGCCCAAAAGATCTGCCAC	0.463																																																	0													71.0	74.0	73.0					2																	179702449		2203	4300	6503	SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3497T>C	2.37:g.179702449A>G	ENSP00000395995:p.Leu1166Pro		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L1166P	ENST00000420890.2	37	c.3497		2	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786639	0.31593	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.48201	0.82;1.43;1.43	5.15	-0.184	0.13280	.	1.582240	0.03916	N	0.282712	T	0.24392	0.0591	N	0.08118	0	0.09310	N	1	P;B	0.34977	0.478;0.263	B;B	0.31686	0.134;0.095	T	0.12426	-1.0548	10	0.49607	T	0.09	4.9632	1.9755	0.03415	0.5549:0.1234:0.203:0.1187	.	591;591	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	P	1166;610;591	ENSP00000395995:L1166P;ENSP00000344627:L610P;ENSP00000295723:L591P	ENSP00000295723:L591P	L	-	2	0	CCDC141	179410694	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.205000	0.09411	-0.164000	0.10927	0.459000	0.35465	CTT	CCDC141	-	NULL	ENSG00000163492		0.463	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding			0.00	45	0	A	NM_173648		179702449	-1			no_errors	ENST00000420890	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	G
CCDC151	115948	genome.wustl.edu	37	19	11532477	11532477	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:11532477C>T	ENST00000356392.4	-	11	1545	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	RGL3_ENST00000393423.3_5'Flank|CCDC151_ENST00000586836.1_Silent_p.K295K|RGL3_ENST00000380456.3_5'Flank|CCDC151_ENST00000545100.1_Silent_p.K432K|CCDC151_ENST00000591179.1_Silent_p.K426K	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	486										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GATCCAGCTCCTTTCCCGCGA	0.662																																																	0													48.0	53.0	51.0					19																	11532477		1894	4086	5980	SO:0001819	synonymous_variant	0				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1458G>A	19.37:g.11532477C>T			B4DXT0|Q96CG5	Silent	SNP	NULL	p.K486	ENST00000356392.4	37	c.1458	CCDS42501.1	19																																																																																			CCDC151	-	NULL	ENSG00000198003		0.662	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	-	0.00	98	0	C	NM_145045		11532477	-1	tier1	-	no_errors	ENST00000356392	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.795	T
CCDC60	160777	genome.wustl.edu	37	12	119909831	119909831	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:119909831G>T	ENST00000327554.2	+	3	668	c.203G>T	c.(202-204)gGa>gTa	p.G68V	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	68								p.G68E(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATAGGCCGTGGATATTTTGCT	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											100.0	97.0	98.0					12																	119909831		2203	4300	6503	SO:0001583	missense	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.203G>T	12.37:g.119909831G>T	ENSP00000333374:p.Gly68Val			Missense_Mutation	SNP	NULL	p.G68V	ENST00000327554.2	37	c.203	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178765	0.38511	.	.	ENSG00000183273	ENST00000327554	T	0.31247	1.5	5.22	5.22	0.72569	.	0.401293	0.21849	N	0.068205	T	0.50171	0.1600	M	0.70595	2.14	0.80722	D	1	D	0.59357	0.985	P	0.59546	0.859	T	0.47686	-0.9098	9	.	.	.	-12.5009	14.2748	0.66173	0.0:0.0:1.0:0.0	.	68	Q8IWA6	CCD60_HUMAN	V	68	ENSP00000333374:G68V	.	G	+	2	0	CCDC60	118394214	0.749000	0.28305	0.014000	0.15608	0.048000	0.14542	4.411000	0.59781	2.407000	0.81776	0.514000	0.50259	GGA	CCDC60	-	NULL	ENSG00000183273		0.468	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1		0.00	38	0	G	NM_178499		119909831	+1			no_errors	ENST00000327554	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.306	T
CCDC86	79080	genome.wustl.edu	37	11	60609977	60609977	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:60609977G>A	ENST00000227520.5	+	1	434	c.380G>A	c.(379-381)tGt>tAt	p.C127Y	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	127	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCACCAAAGTGTTCTCAGGAC	0.607																																																	0													65.0	64.0	64.0					11																	60609977		2203	4298	6501	SO:0001583	missense	0			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.380G>A	11.37:g.60609977G>A	ENSP00000227520:p.Cys127Tyr		B4DY99	Missense_Mutation	SNP	NULL	p.C127Y	ENST00000227520.5	37	c.380	CCDS7993.1	11	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.651232	0.00785	.	.	ENSG00000110104	ENST00000227520	T	0.41065	1.01	3.81	-7.61	0.01299	.	2.125850	0.01721	N	0.028290	T	0.25606	0.0623	L	0.40543	1.245	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.02654	T	1	6.0863	6.0152	0.19598	0.0953:0.4588:0.3043:0.1417	.	127	Q9H6F5	CCD86_HUMAN	Y	127	ENSP00000227520:C127Y	ENSP00000227520:C127Y	C	+	2	0	CCDC86	60366553	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.290000	0.01148	-2.538000	0.00487	-0.397000	0.06425	TGT	CCDC86	-	NULL	ENSG00000110104		0.607	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC86	HGNC	protein_coding	OTTHUMT00000395743.1	-	0.00	47	0	G	NM_024098		60609977	+1	tier1	-	no_errors	ENST00000227520	ensembl	human	known	74_37	missense	51.52	16	17	SNP	0.000	A
CCDC81	60494	genome.wustl.edu	37	11	86106378	86106378	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:86106378G>T	ENST00000445632.2	+	5	830	c.558G>T	c.(556-558)agG>agT	p.R186S	CCDC81_ENST00000528728.1_5'UTR|CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Missense_Mutation_p.R96S	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	186										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCCTCTAGAGGCCTGGCACTG	0.527																																																	0													181.0	147.0	159.0					11																	86106378		2202	4299	6501	SO:0001583	missense	0			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.558G>T	11.37:g.86106378G>T	ENSP00000415528:p.Arg186Ser		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	superfamily_IHF-like_DNA-bd_dom	p.R186S	ENST00000445632.2	37	c.558	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424996	0.43020	.	.	ENSG00000149201	ENST00000354755;ENST00000531271;ENST00000445632	T;T;T	0.29655	1.56;1.56;1.56	5.33	2.44	0.29823	.	0.055638	0.64402	D	0.000002	T	0.48205	0.1487	M	0.65498	2.005	0.80722	D	1	D;B	0.89917	1.0;0.009	D;B	0.91635	0.999;0.009	T	0.32455	-0.9906	9	.	.	.	-21.2694	8.6616	0.34097	0.2459:0.0:0.7541:0.0	.	186;96	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	S	96;48;186	ENSP00000346800:R96S;ENSP00000434959:R48S;ENSP00000415528:R186S	.	R	+	3	2	CCDC81	85784026	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.271000	0.33098	0.329000	0.23460	0.563000	0.77884	AGG	CCDC81	-	NULL	ENSG00000149201		0.527	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	-	0.00	63	0	G	NM_021827		86106378	+1	tier1	-	no_errors	ENST00000445632	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	T
CCP110	9738	genome.wustl.edu	37	16	19548389	19548389	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:19548389delA	ENST00000381396.5	+	4	1645	c.1398delA	c.(1396-1398)ggafs	p.G466fs	CCP110_ENST00000396212.2_Frame_Shift_Del_p.G466fs|CCP110_ENST00000396208.2_Frame_Shift_Del_p.G466fs	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	466	Interaction with CEP76.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AATCTTCAGGAAATCATTTAG	0.388																																																	0													86.0	88.0	87.0					16																	19548389		2197	4300	6497	SO:0001589	frameshift_variant	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1398delA	16.37:g.19548389delA	ENSP00000370803:p.Gly466fs		B7WP23|O43335|Q68DV9|Q8NE13	Frame_Shift_Del	DEL	NULL	p.N467fs	ENST00000381396.5	37	c.1398	CCDS55992.1	16																																																																																			CCP110	-	NULL	ENSG00000103540		0.388	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2		0.00	53	0	A	NM_014711		19548389	+1	tier1		no_errors	ENST00000381396	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.055	-
CCT6B	10693	genome.wustl.edu	37	17	33266673	33266673	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:33266673C>A	ENST00000314144.5	-	9	1143	c.1028G>T	c.(1027-1029)tGc>tTc	p.C343F	CCT6B_ENST00000421975.3_Missense_Mutation_p.C306F|CCT6B_ENST00000436961.3_Missense_Mutation_p.C298F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	343					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ATGTCCCAAGCAATCTACAGT	0.363																																																	0													112.0	97.0	102.0					17																	33266673		2203	4300	6503	SO:0001583	missense	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1028G>T	17.37:g.33266673C>A	ENSP00000327191:p.Cys343Phe		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.C343F	ENST00000314144.5	37	c.1028	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794285	0.31777	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.78364	-1.17;-1.17;-1.17	4.7	3.57	0.40892	.	0.130780	0.64402	D	0.000001	T	0.79155	0.4398	M	0.89214	3.015	0.49051	D	0.999749	B;P;P	0.42556	0.007;0.598;0.783	B;B;P	0.44422	0.053;0.279;0.449	T	0.76217	-0.3040	10	0.09843	T	0.71	-0.0356	8.8526	0.35210	0.0:0.8577:0.0:0.1423	.	298;306;343	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	F	306;343;298	ENSP00000398044:C306F;ENSP00000327191:C343F;ENSP00000400917:C298F	ENSP00000327191:C343F	C	-	2	0	CCT6B	30290786	1.000000	0.71417	0.977000	0.42913	0.976000	0.68499	3.093000	0.50217	1.076000	0.40961	0.563000	0.77884	TGC	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.363	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1		0.00	54	0	C	NM_006584		33266673	-1			no_errors	ENST00000314144	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A
CD109	135228	genome.wustl.edu	37	6	74513012	74513012	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:74513012C>G	ENST00000287097.5	+	24	3060	c.2948C>G	c.(2947-2949)tCt>tGt	p.S983C	CD109_ENST00000422508.2_Missense_Mutation_p.S906C|CD109_ENST00000437994.2_Missense_Mutation_p.S983C|CD109_ENST00000474094.1_3'UTR			Q6YHK3	CD109_HUMAN	CD109 molecule	983					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATGACCCTTCTGGGAGCACT	0.418																																																	0													129.0	117.0	121.0					6																	74513012		2203	4300	6503	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2948C>G	6.37:g.74513012C>G	ENSP00000287097:p.Ser983Cys		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S983C	ENST00000287097.5	37	c.2948	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760631	0.49468	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.35048	1.33;1.33;1.33	4.18	4.18	0.49190	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.580990	0.18549	N	0.137943	T	0.53706	0.1813	M	0.85462	2.755	0.43652	D	0.996068	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.992	T	0.60000	-0.7348	10	0.87932	D	0	.	10.6925	0.45879	0.0:0.9118:0.0:0.0882	.	906;983;983	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	C	983;906;983	ENSP00000388062:S983C;ENSP00000404475:S906C;ENSP00000287097:S983C	ENSP00000287097:S983C	S	+	2	0	CD109	74569733	1.000000	0.71417	0.999000	0.59377	0.399000	0.30720	5.185000	0.65076	2.319000	0.78375	0.655000	0.94253	TCT	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000156535		0.418	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0.00	57	0	C	NM_133493		74513012	+1	tier1	-	no_errors	ENST00000287097	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	G
CD48	962	genome.wustl.edu	37	1	160651063	160651063	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:160651063T>C	ENST00000368046.3	-	3	668	c.581A>G	c.(580-582)tAt>tGt	p.Y194C	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	194	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTGGCAAGTATAACACCTGGA	0.522																																																	0													141.0	125.0	130.0					1																	160651063		2203	4300	6503	SO:0001583	missense	0			BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.581A>G	1.37:g.160651063T>C	ENSP00000357025:p.Tyr194Cys		Q5U055|Q8MGR0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.Y194C	ENST00000368046.3	37	c.581	CCDS1208.1	1	.	.	.	.	.	.	.	.	.	.	T	9.179	1.022996	0.19433	.	.	ENSG00000117091	ENST00000368046	T	0.54071	0.59	3.84	1.37	0.22104	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.196976	0.45361	D	0.000364	T	0.56441	0.1985	M	0.79475	2.455	0.35232	D	0.777001	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	T	0.59984	-0.7351	10	0.87932	D	0	-0.4457	6.5725	0.22547	0.4204:0.0:0.0:0.5796	.	194;194	Q6IAZ2;P09326	.;CD48_HUMAN	C	194	ENSP00000357025:Y194C	ENSP00000357025:Y194C	Y	-	2	0	CD48	158917687	0.966000	0.33281	0.408000	0.26446	0.051000	0.14879	0.434000	0.21494	0.253000	0.21552	0.533000	0.62120	TAT	CD48	-	pfscan_Ig-like_dom	ENSG00000117091		0.522	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD48	HGNC	protein_coding	OTTHUMT00000060471.1	-	0.00	115	0	T	NM_001778		160651063	-1	tier1	-	no_errors	ENST00000368046	ensembl	human	known	74_37	missense	51.81	40	43	SNP	0.500	C
CDH17	1015	genome.wustl.edu	37	8	95186122	95186122	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:95186122G>A	ENST00000027335.3	-	7	810	c.686C>T	c.(685-687)tCt>tTt	p.S229F	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.S229F	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GATATCCACAGATGTGGTATC	0.433																																																	0													136.0	129.0	131.0					8																	95186122		2203	4300	6503	SO:0001583	missense	0			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.686C>T	8.37:g.95186122G>A	ENSP00000027335:p.Ser229Phe		Q15336|Q2M2E0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S229F	ENST00000027335.3	37	c.686	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	G	2.880	-0.232025	0.05983	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.53206	0.63;0.63	5.96	1.81	0.25067	Cadherin (4);Cadherin-like (1);	0.637723	0.14787	N	0.298471	T	0.35098	0.0920	L	0.46614	1.455	0.09310	N	1	P	0.43169	0.8	B	0.39840	0.311	T	0.16394	-1.0404	10	0.10111	T	0.7	-3.668	9.0328	0.36269	0.0719:0.0:0.3111:0.617	.	229	Q12864	CAD17_HUMAN	F	229	ENSP00000027335:S229F;ENSP00000401468:S229F	ENSP00000027335:S229F	S	-	2	0	CDH17	95255298	0.100000	0.21855	0.191000	0.23289	0.530000	0.34684	0.527000	0.22987	0.357000	0.24183	0.655000	0.94253	TCT	CDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000079112		0.433	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	-	0.00	45	0	G	NM_004063		95186122	-1	tier1	-	no_errors	ENST00000027335	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.048	A
CDK13	8621	genome.wustl.edu	37	7	40134379	40134379	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:40134379C>T	ENST00000181839.4	+	14	4944	c.4339C>T	c.(4339-4341)Cca>Tca	p.P1447S	CDK13_ENST00000340829.5_Missense_Mutation_p.P1387S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1447					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTCCACGGGGCCAGAGAGTAC	0.493																																																	0													108.0	92.0	97.0					7																	40134379		2203	4300	6503	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4339C>T	7.37:g.40134379C>T	ENSP00000181839:p.Pro1447Ser		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.P1447S	ENST00000181839.4	37	c.4339	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	9.474	1.096299	0.20552	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.44881	0.91;0.91	5.13	5.13	0.70059	.	.	.	.	.	T	0.38295	0.1035	L	0.42245	1.32	0.33636	D	0.60664	P;B	0.36282	0.546;0.075	B;B	0.39119	0.291;0.015	T	0.51301	-0.8723	8	.	.	.	-8.1367	13.0214	0.58789	0.0:0.9223:0.0:0.0777	.	1387;1447	Q14004-2;Q14004	.;CDK13_HUMAN	S	1447;1387	ENSP00000181839:P1447S;ENSP00000340557:P1387S	.	P	+	1	0	CDK13	40100904	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.225000	0.42954	2.409000	0.81822	0.650000	0.86243	CCA	CDK13	-	NULL	ENSG00000065883		0.493	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2		0.00	56	0	C	NM_003718		40134379	+1			no_errors	ENST00000181839	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
CHD7	55636	genome.wustl.edu	37	8	61778111	61778111	+	Silent	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:61778111T>C	ENST00000423902.2	+	38	9092	c.8613T>C	c.(8611-8613)aaT>aaC	p.N2871N	CHD7_ENST00000524602.1_Silent_p.N822N	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2871					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACTCTGCGAATGGATCTGTTG	0.527																																																	0													92.0	101.0	98.0					8																	61778111		2134	4251	6385	SO:0001819	synonymous_variant	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8613T>C	8.37:g.61778111T>C			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N2871	ENST00000423902.2	37	c.8613	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.527	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0.00	32	0	T	XM_098762		61778111	+1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	silent	19.51	33	8	SNP	0.994	C
CHD8	57680	genome.wustl.edu	37	14	21883794	21883794	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:21883794G>T	ENST00000557364.1	-	7	2170	c.1907C>A	c.(1906-1908)cCc>cAc	p.P636H	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.P636H|CHD8_ENST00000430710.3_Missense_Mutation_p.P357H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	636					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCTTCACTGGGATTCTCCTG	0.378																																																	0													80.0	77.0	78.0					14																	21883794		1882	4108	5990	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1907C>A	14.37:g.21883794G>T	ENSP00000451601:p.Pro636His		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P636H	ENST00000557364.1	37	c.1907	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540868	0.85917	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.71341	-0.56;-0.56;-0.56	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.83896	0.0287	10	0.87932	D	0	-10.0788	17.2366	0.87000	0.0:0.0:1.0:0.0	.	357	Q9HCK8-2	.	H	357;636;356;636	ENSP00000406288:P357H;ENSP00000382863:P636H;ENSP00000451601:P636H	ENSP00000262707:P356H	P	-	2	0	CHD8	20953634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.612000	0.98347	2.597000	0.87782	0.655000	0.94253	CCC	CHD8	-	NULL	ENSG00000100888		0.378	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	0.00	88	0	G	NM_020920		21883794	-1	tier1	-	no_errors	ENST00000399982	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
CHM	1121	genome.wustl.edu	37	X	85117433	85117433	+	3'UTR	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:85117433C>T	ENST00000357749.2	-	0	4193				CHM_ENST00000467744.2_5'UTR	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)						blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TAATATATTGCTGATATCCAG	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.*2202G>A	X.37:g.85117433C>T			A1L4D2|O43732	RNA	SNP	-	NULL	ENST00000357749.2	37	NULL	CCDS14454.1	X																																																																																			CHM	-	-	ENSG00000188419		0.373	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	-	0.00	58	0	C	NM_000390		85117433	-1	tier1	-	no_errors	ENST00000467744	ensembl	human	known	74_37	rna	6.56	57	4	SNP	0.998	T
CHST15	51363	genome.wustl.edu	37	10	125771915	125771915	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:125771915G>A	ENST00000346248.5	-	7	2071	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	CHST15_ENST00000435907.1_Missense_Mutation_p.R477C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	477					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.R477C(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCTTCCAGGCGAAGAATGAGA	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)											150.0	113.0	126.0					10																	125771915		2203	4300	6503	SO:0001583	missense	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1429C>T	10.37:g.125771915G>A	ENSP00000333947:p.Arg477Cys		O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R477C	ENST00000346248.5	37	c.1429	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994998	0.74703	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	D;D	0.84070	-1.8;-1.8	5.16	5.16	0.70880	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90653	0.4584	10	0.72032	D	0.01	-29.5448	13.5935	0.61975	0.0:0.0:0.8447:0.1552	.	477	Q7LFX5	CHSTF_HUMAN	C	477	ENSP00000333947:R477C;ENSP00000402394:R477C	ENSP00000333947:R477C	R	-	1	0	CHST15	125761905	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.449000	0.66619	2.402000	0.81655	0.655000	0.94253	CGC	CHST15	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000182022		0.502	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	-	0.00	74	0	G	NM_015892		125771915	-1	tier1	-	no_errors	ENST00000346248	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.989	A
CHTF18	63922	genome.wustl.edu	37	16	839599	839599	+	Missense_Mutation	SNP	C	C	T	rs540916853	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:839599C>T	ENST00000262315.9	+	4	553	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	CHTF18_ENST00000455171.2_Missense_Mutation_p.R192C|RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.R361C|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000561734.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	164					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				ACCAGCTGCCCGCAATCCCGT	0.647													C|||	5	0.000998403	0.0008	0.0	5008	,	,		16858	0.0		0.0	False		,,,				2504	0.0041																0													43.0	50.0	47.0					16																	839599		2052	4177	6229	SO:0001583	missense	0			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.490C>T	16.37:g.839599C>T	ENSP00000262315:p.Arg164Cys		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R361C	ENST00000262315.9	37	c.1081	CCDS45371.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.861332|3.861332	0.71949|0.71949	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000426047|ENST00000317063;ENST00000455171;ENST00000262315	.|T;T;T	.|0.11712	.|2.75;2.81;2.81	5.26|5.26	2.07|2.07	0.26955|0.26955	.|.	.|0.729028	.|0.13744	.|N	.|0.365777	T|T	0.12305|0.12305	0.0299|0.0299	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.76494	.|0.463;0.999;0.997	.|B;P;P	.|0.56088	.|0.045;0.791;0.543	T|T	0.12708|0.12708	-1.0537|-1.0537	5|10	.|0.72032	.|D	.|0.01	-10.9201|-10.9201	4.2521|4.2521	0.10700|0.10700	0.1296:0.5878:0.1265:0.1561|0.1296:0.5878:0.1265:0.1561	.|.	.|164;192;164	.|B4DEY3;Q8WVB6-2;Q8WVB6	.|.;.;CTF18_HUMAN	L|C	34|361;192;164	.|ENSP00000313029:R361C;ENSP00000406252:R192C;ENSP00000262315:R164C	.|ENSP00000262315:R164C	P|R	+|+	2|1	0|0	CHTF18|CHTF18	779600|779600	0.000000|0.000000	0.05858|0.05858	0.058000|0.058000	0.19502|0.19502	0.098000|0.098000	0.18820|0.18820	0.230000|0.230000	0.17852|0.17852	1.222000|1.222000	0.43521|0.43521	0.549000|0.549000	0.68633|0.68633	CCG|CGC	CHTF18	-	NULL	ENSG00000127586		0.647	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	HGNC	protein_coding	OTTHUMT00000109061.3	-	0.00	119	0	C	NM_022092		839599	+1	tier1	-	no_errors	ENST00000317063	ensembl	human	known	74_37	missense	15.28	61	11	SNP	0.003	T
CIC	23152	genome.wustl.edu	37	19	42797972	42797972	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:42797972delT	ENST00000575354.2	+	16	4064	c.4024delT	c.(4024-4026)tttfs	p.F1342fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.F1340fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.F2249fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAAGAAGACCTTTGACTCTGT	0.682			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													44.0	58.0	53.0					19																	42797972		2172	4281	6453	SO:0001589	frameshift_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4024delT	19.37:g.42797972delT	ENSP00000458663:p.Phe1342fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.F1342fs	ENST00000575354.2	37	c.4024	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0.00	18	0	T			42797972	+1	tier1		no_errors	ENST00000575354	ensembl	human	known	74_37	frame_shift_del	40.00	3	2	DEL	1.000	-
CISD1	55847	genome.wustl.edu	37	10	60028987	60028987	+	5'UTR	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:60028987G>T	ENST00000333926.5	+	0	170				IPMK_ENST00000373935.3_5'Flank	NM_018464.4	NP_060934.1	Q9NZ45	CISD1_HUMAN	CDGSH iron sulfur domain 1						regulation of cellular respiration (GO:0043457)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)			breast(1)	1						GCGCGAACCCGTTTGAGCTCG	0.662																																																	0													44.0	39.0	40.0					10																	60028987		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AY960578	CCDS7251.1	10q21.3	2011-01-05	2007-08-10	2007-08-10	ENSG00000122873	ENSG00000122873		"""CDGSH iron sulfur domain containing"""	30880	protein-coding gene	gene with protein product		611932	"""chromosome 10 open reading frame 70"", ""zinc finger, CDGSH-type domain 1"""	C10orf70, ZCD1		17376863, 17584744	Standard	NM_018464		Approved	MDS029, mitoNEET	uc001jkc.5	Q9NZ45	OTTHUMG00000018266	ENST00000333926.5:c.-47G>T	10.37:g.60028987G>T			Q1X902	RNA	SNP	-	NULL	ENST00000333926.5	37	NULL	CCDS7251.1	10																																																																																			CISD1	-	-	ENSG00000122873		0.662	CISD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD1	HGNC	protein_coding	OTTHUMT00000048137.1	-	0.00	79	0	G	NM_018464		60028987	+1	tier1	-	no_errors	ENST00000464703	ensembl	human	known	74_37	rna	7.58	60	5	SNP	0.000	T
CLINT1	9685	genome.wustl.edu	37	5	157218818	157218818	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:157218818C>G	ENST00000411809.2	-	10	1477	c.1273G>C	c.(1273-1275)Gat>Cat	p.D425H	CLINT1_ENST00000523908.1_Missense_Mutation_p.D425H|CLINT1_ENST00000523094.1_Missense_Mutation_p.D407H|CLINT1_ENST00000296951.5_Missense_Mutation_p.D407H|CLINT1_ENST00000530742.1_Missense_Mutation_p.D407H	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	425					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCATAAGATCAAACAGGTCT	0.493																																					Colon(22;427 587 2170 6147 14291)												0													97.0	103.0	101.0					5																	157218818		2030	4193	6223	SO:0001583	missense	0			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1273G>C	5.37:g.157218818C>G	ENSP00000388340:p.Asp425His		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.D407H	ENST00000411809.2	37	c.1219	CCDS47330.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.241131|4.241131	0.79912|0.79912	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.084546|.	0.85682|.	D|.	0.000000|.	T|.	0.72622|.	0.3483|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.65815|.	0.995;0.987|.	P;P|.	0.57548|.	0.823;0.781|.	T|.	0.67317|.	-0.5701|.	10|.	0.72032|.	D|.	0.01|.	-16.3556|-16.3556	20.205|20.205	0.98274|0.98274	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	425;425|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	H|S	407;407;425;407;425|116	ENSP00000429345:D407H;ENSP00000433419:D407H;ENSP00000388340:D425H;ENSP00000296951:D407H;ENSP00000429824:D425H|.	ENSP00000296951:D407H|.	D|X	-|-	1|2	0|2	CLINT1|CLINT1	157151396|157151396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.563000|5.563000	0.67352|0.67352	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAT|TGA	CLINT1	-	NULL	ENSG00000113282		0.493	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1	-	0.00	103	0	C	NM_014666		157218818	-1	tier1	-	no_errors	ENST00000296951	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	G
CMAHP	8418	genome.wustl.edu	37	6	25137932	25137932	+	RNA	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:25137932T>C	ENST00000377989.4	-	0	639							Q9Y471	CMAH_HUMAN	cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene						CMP-N-acetylneuraminate metabolic process (GO:0046381)	cytoplasm (GO:0005737)	2 iron, 2 sulfur cluster binding (GO:0051537)|oxidoreductase activity (GO:0016491)			NS(1)	1						TCGGCTCTTATTCTTGTACAA	0.443																																																	0																																												0					6p23-p22	2011-04-28	2011-04-28	2011-04-28	ENSG00000168405	ENSG00000168405			2098	pseudogene	pseudogene		603209	"""cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene)"""	CMAH		7608218, 9624188	Standard	NR_002174		Approved		uc003ner.4	Q9Y471	OTTHUMG00000016099		6.37:g.25137932T>C			O95250|Q5TD41|Q5TD42|Q5TD43|Q5TD44|Q68DC3|Q9UEE7	RNA	SNP	-	NULL	ENST00000377989.4	37	NULL		6																																																																																			CMAHP	-	-	ENSG00000168405		0.443	CMAHP-002	KNOWN	basic	processed_transcript	CMAHP	HGNC	pseudogene	OTTHUMT00000043292.2	-	0.00	74	0	T	NR_002174		25137932	-1	tier1	-	no_errors	ENST00000377989	ensembl	human	known	74_37	rna	57.81	27	37	SNP	0.000	C
CNBD1	168975	genome.wustl.edu	37	8	88249239	88249239	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:88249239C>T	ENST00000518476.1	+	6	721	c.670C>T	c.(670-672)Cca>Tca	p.P224S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	224								p.P224T(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAGTGATTCACCAGACTCGTT	0.373																																																	2	Substitution - Missense(2)	lung(2)											133.0	120.0	124.0					8																	88249239		1857	4094	5951	SO:0001583	missense	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.670C>T	8.37:g.88249239C>T	ENSP00000430073:p.Pro224Ser			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.P224S	ENST00000518476.1	37	c.670	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	C	3.027	-0.200580	0.06219	.	.	ENSG00000176571	ENST00000518476	T	0.16897	2.31	4.05	0.407	0.16371	Cyclic nucleotide-binding-like (1);	2.511740	0.01467	N	0.016121	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22730	-1.0208	10	0.09338	T	0.73	-0.1399	3.333	0.07091	0.5083:0.2317:0.26:0.0	.	224	Q8NA66	CNBD1_HUMAN	S	224	ENSP00000430073:P224S	ENSP00000430073:P224S	P	+	1	0	CNBD1	88318355	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.421000	0.07053	0.063000	0.16370	-0.262000	0.10625	CCA	CNBD1	-	superfamily_cNMP-bd-like	ENSG00000176571		0.373	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	-	0.00	92	0	C	NM_173538		88249239	+1	tier1	-	no_errors	ENST00000518476	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T
CNOT3	4849	genome.wustl.edu	37	19	54649343	54649343	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:54649343C>T	ENST00000406403.1	+	7	2096	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R165W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	165					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGCAGGACCGGATTGAGGG	0.632																																																	0													73.0	54.0	60.0					19																	54649343		2203	4300	6503	SO:0001583	missense	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.493C>T	19.37:g.54649343C>T	ENSP00000383954:p.Arg165Trp		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.R165W	ENST00000406403.1	37	c.493	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275160	0.80580	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.56776	0.44;0.44	4.73	4.73	0.59995	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71298	0.3323	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.74754	-0.3558	10	0.87932	D	0	-29.1343	12.4506	0.55675	0.1684:0.8316:0.0:0.0	.	165;165;89	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	W	165	ENSP00000221232:R165W;ENSP00000383954:R165W	ENSP00000221232:R165W	R	+	1	2	CNOT3	59341155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.332000	0.59279	2.567000	0.86603	0.609000	0.83330	CGG	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	-	0.00	20	0	C	NM_014516		54649343	+1	tier1	-	no_errors	ENST00000221232	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T
CNOT4	4850	genome.wustl.edu	37	7	135047814	135047814	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:135047814G>T	ENST00000451834.1	-	12	2239	c.1956C>A	c.(1954-1956)caC>caA	p.H652Q	CNOT4_ENST00000541284.1_Missense_Mutation_p.H655Q|CNOT4_ENST00000423368.2_Missense_Mutation_p.H584Q|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Missense_Mutation_p.H581Q			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGGCGCTGTGGTGGGTCTGTG	0.582																																					Ovarian(51;766 1130 5502 35047 50875)												0													118.0	131.0	127.0					7																	135047814		2066	4198	6264	SO:0001583	missense	0			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1956C>A	7.37:g.135047814G>T	ENSP00000388491:p.His652Gln		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.H655Q	ENST00000451834.1	37	c.1965	CCDS55167.1	7	.	.	.	.	.	.	.	.	.	.	G	7.062	0.566596	0.13560	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528	T;T;T;T	0.42513	1.01;1.0;0.98;0.97	5.92	3.99	0.46301	.	0.337088	0.36555	N	0.002530	T	0.22742	0.0549	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.11235	0.0;0.0;0.004;0.004	B;B;B;B	0.11329	0.001;0.003;0.006;0.006	T	0.06144	-1.0843	10	0.27785	T	0.31	-3.0626	6.8101	0.23799	0.0684:0.1264:0.6745:0.1307	.	652;655;584;581	E7ET38;F8VQP3;O95628-4;O95628-8	.;.;.;.	Q	655;652;584;655;581	ENSP00000445508:H655Q;ENSP00000388491:H652Q;ENSP00000406777:H584Q;ENSP00000354673:H581Q	ENSP00000262563:H655Q	H	-	3	2	CNOT4	134698354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.381000	0.34362	1.482000	0.48325	0.557000	0.71058	CAC	CNOT4	-	NULL	ENSG00000080802		0.582	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CNOT4	HGNC	protein_coding	OTTHUMT00000340670.1		0.00	73	0	G	NM_013316		135047814	-1			no_errors	ENST00000541284	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
CNTN6	27255	genome.wustl.edu	37	3	1415749	1415749	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:1415749A>T	ENST00000446702.2	+	16	2714	c.2087A>T	c.(2086-2088)aAa>aTa	p.K696I	CNTN6_ENST00000539053.1_Missense_Mutation_p.K624I|CNTN6_ENST00000350110.2_Missense_Mutation_p.K696I			Q9UQ52	CNTN6_HUMAN	contactin 6	696	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTAAGAACTAAAGCATCAGGT	0.358																																																	0													108.0	107.0	107.0					3																	1415749		2203	4300	6503	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2087A>T	3.37:g.1415749A>T	ENSP00000407822:p.Lys696Ile		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K696I	ENST00000446702.2	37	c.2087	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855269	0.71719	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.54071	0.59;0.59;0.59	5.16	1.5	0.22942	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.292125	0.29515	N	0.011927	T	0.60753	0.2293	M	0.81112	2.525	0.45747	D	0.998645	D	0.57899	0.981	P	0.52267	0.694	T	0.60924	-0.7166	10	0.56958	D	0.05	.	8.8034	0.34923	0.7834:0.0:0.2166:0.0	.	696	Q9UQ52	CNTN6_HUMAN	I	696;624;696	ENSP00000407822:K696I;ENSP00000442791:K624I;ENSP00000341882:K696I	ENSP00000341882:K696I	K	+	2	0	CNTN6	1390749	1.000000	0.71417	0.990000	0.47175	0.933000	0.57130	2.131000	0.42074	0.076000	0.16826	0.533000	0.62120	AAA	CNTN6	-	superfamily_Fibronectin_type3	ENSG00000134115		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	-	0.00	144	0	A	NM_014461		1415749	+1	tier1	-	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	29.37	101	42	SNP	1.000	T
COPA	1314	genome.wustl.edu	37	1	160263226	160263226	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:160263226C>T	ENST00000241704.7	-	26	2933	c.2704G>A	c.(2704-2706)Gct>Act	p.A902T	COPA_ENST00000368069.3_Missense_Mutation_p.A911T	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	902					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCATCTTCAGCCCCACCAGCT	0.458																																																	0													41.0	38.0	39.0					1																	160263226		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2704G>A	1.37:g.160263226C>T	ENSP00000241704:p.Ala902Thr		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A911T	ENST00000241704.7	37	c.2731	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017895	0.54576	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.51071	0.72;0.72	6.03	4.11	0.48088	Coatomer, alpha subunit, C-terminal (1);	0.211847	0.49305	D	0.000154	T	0.31009	0.0783	M	0.74881	2.28	0.51767	D	0.99993	B;B	0.09022	0.0;0.002	B;B	0.10450	0.005;0.002	T	0.30090	-0.9990	10	0.40728	T	0.16	-10.9823	9.7834	0.40662	0.1389:0.7863:0.0:0.0748	.	902;911	P53621;P53621-2	COPA_HUMAN;.	T	911;902	ENSP00000357048:A911T;ENSP00000241704:A902T	ENSP00000241704:A902T	A	-	1	0	COPA	158529850	0.848000	0.29623	0.995000	0.50966	0.967000	0.64934	1.437000	0.34991	1.512000	0.48834	0.557000	0.71058	GCT	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu	ENSG00000122218		0.458	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	-	0.00	115	0	C	NM_004371		160263226	-1	tier1	-	no_errors	ENST00000368069	ensembl	human	known	74_37	missense	5.62	83	5	SNP	0.998	T
COPG1	22820	genome.wustl.edu	37	3	128974935	128974935	+	Missense_Mutation	SNP	G	G	T	rs369168388		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:128974935G>T	ENST00000314797.6	+	8	621	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	173					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										CAGCTTTGACGTGGTCAAGCG	0.522																																																	0													170.0	143.0	152.0					3																	128974935		2203	4300	6503	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.517G>T	3.37:g.128974935G>T	ENSP00000325002:p.Val173Leu		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.V173L	ENST00000314797.6	37	c.517	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742154	0.69418	.	.	ENSG00000181789	ENST00000314797	T	0.19669	2.13	4.18	2.38	0.29361	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.642479	0.14603	N	0.309471	T	0.20536	0.0494	M	0.63169	1.94	0.42118	D	0.991417	B	0.10296	0.003	B	0.15484	0.013	T	0.03249	-1.1056	10	0.30078	T	0.28	-8.0858	7.9427	0.29967	0.204:0.0:0.796:0.0	.	173	Q9Y678	COPG_HUMAN	L	173	ENSP00000325002:V173L	ENSP00000325002:V173L	V	+	1	0	COPG	130457625	1.000000	0.71417	0.951000	0.38953	0.992000	0.81027	6.139000	0.71728	0.428000	0.26173	0.585000	0.79938	GTG	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu	ENSG00000181789		0.522	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	-	0.00	59	0	G	NM_016128		128974935	+1	tier1	-	no_errors	ENST00000314797	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T
COQ3	51805	genome.wustl.edu	37	6	99842037	99842037	+	Missense_Mutation	SNP	G	G	T	rs201037643	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:99842037G>T	ENST00000254759.3	-	1	43	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_De_novo_Start_InFrame	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	7					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		GAGGAGCCCAGCTTACGGCCA	0.552																																																	0													45.0	47.0	46.0					6																	99842037		2203	4300	6503	SO:0001583	missense	0			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.19C>A	6.37:g.99842037G>T	ENSP00000254759:p.Leu7Met		B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.L7M	ENST00000254759.3	37	c.19	CCDS5042.1	6	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874940	0.51695	.	.	ENSG00000132423	ENST00000254759	T	0.32988	1.43	4.09	1.19	0.21007	.	0.126276	0.31936	N	0.006832	T	0.05960	0.0155	L	0.27053	0.805	0.20489	N	0.999892	P	0.34977	0.478	B	0.27608	0.081	T	0.18335	-1.0340	10	0.87932	D	0	-12.7192	4.5854	0.12280	0.1057:0.0:0.5028:0.3915	.	7	Q9NZJ6	COQ3_HUMAN	M	7	ENSP00000254759:L7M	ENSP00000254759:L7M	L	-	1	2	COQ3	99948758	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	0.001000	0.13038	0.244000	0.21351	0.561000	0.74099	CTG	COQ3	-	NULL	ENSG00000132423		0.552	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	-	0.00	51	0	G	NM_017421		99842037	-1	tier1	-	no_errors	ENST00000254759	ensembl	human	known	74_37	missense	7.14	65	5	SNP	0.003	T
CORO7	79585	genome.wustl.edu	37	16	4455542	4455542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:4455542G>A	ENST00000251166.4	-	6	659	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	CORO7_ENST00000577144.1_5'Flank|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Nonsense_Mutation_p.Q154*|CORO7-PAM16_ENST00000572467.1_Nonsense_Mutation_p.Q172*|CORO7_ENST00000574025.1_Nonsense_Mutation_p.Q87*|CORO7_ENST00000539968.1_5'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	172					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ACGGCGCTCTGCACCAGGTCC	0.692																																																	0													39.0	37.0	38.0					16																	4455542		2197	4300	6497	SO:0001587	stop_gained	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.514C>T	16.37:g.4455542G>A	ENSP00000251166:p.Gln172*		B4DFD6|B4DL18|I3L416|Q17RK4	Nonsense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q172*	ENST00000251166.4	37	c.514	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492681	0.84962	.	.	ENSG00000103426	ENST00000251166;ENST00000537233	.	.	.	4.4	4.4	0.53042	.	0.898620	0.09231	U	0.830618	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-17.2418	14.1838	0.65592	0.0:0.0:1.0:0.0	.	.	.	.	X	172;87	.	ENSP00000251166:Q172X	Q	-	1	0	CORO7	4395543	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.707000	0.61852	2.432000	0.82394	0.655000	0.94253	CAG	CORO7-PAM16	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103426		0.692	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0.00	113	0	G	NM_024535		4455542	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	A
CRB1	23418	genome.wustl.edu	37	1	197316481	197316481	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:197316481A>T	ENST00000367400.3	+	4	995	c.860A>T	c.(859-861)aAc>aTc	p.N287I	CRB1_ENST00000535699.1_Missense_Mutation_p.N218I|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.N287I|CRB1_ENST00000367399.2_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	287	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATAGCTGTAACTGCACGGGT	0.388																																																	0													199.0	180.0	187.0					1																	197316481		2203	4300	6503	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.860A>T	1.37:g.197316481A>T	ENSP00000356370:p.Asn287Ile		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.N287I	ENST00000367400.3	37	c.860	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013214	0.54468	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	T;T;D	0.90955	-0.06;-0.06;-2.76	5.4	3.0	0.34707	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86518	0.5952	N	0.25426	0.745	0.80722	D	1	P;D;P;P	0.54964	0.893;0.969;0.893;0.934	B;P;B;P	0.50537	0.416;0.595;0.328;0.643	T	0.80859	-0.1194	9	0.20046	T	0.44	.	12.022	0.53348	0.7259:0.2741:0.0:0.0	.	287;218;287;312	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	I	218;287;287	ENSP00000438786:N218I;ENSP00000438091:N287I;ENSP00000356370:N287I	ENSP00000356370:N287I	N	+	2	0	CRB1	195583104	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	5.664000	0.68045	0.318000	0.23185	0.477000	0.44152	AAC	CRB1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134376		0.388	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0.00	69	0	A	NM_201253		197316481	+1	tier1	-	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	19.48	62	15	SNP	1.000	T
CREB5	9586	genome.wustl.edu	37	7	28843966	28843966	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:28843966C>T	ENST00000357727.2	+	8	1243	c.853C>T	c.(853-855)Cca>Tca	p.P285S	CREB5_ENST00000396300.2_Missense_Mutation_p.P278S|CREB5_ENST00000396298.2_Missense_Mutation_p.P146S|CREB5_ENST00000409603.1_Missense_Mutation_p.P252S|CREB5_ENST00000396299.2_Missense_Mutation_p.P252S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	285					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ccagacactgccaccccatca	0.592																																																	0													598.0	355.0	438.0					7																	28843966		2203	4300	6503	SO:0001583	missense	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.853C>T	7.37:g.28843966C>T	ENSP00000350359:p.Pro285Ser		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.P285S	ENST00000357727.2	37	c.853	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032253	0.54790	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.66460	-0.17;-0.16;-0.15;-0.17;-0.21	5.39	5.39	0.77823	.	0.163320	0.56097	D	0.000038	T	0.55862	0.1947	L	0.43152	1.355	0.48762	D	0.999703	B;B	0.28378	0.027;0.209	B;B	0.18263	0.005;0.021	T	0.53019	-0.8497	10	0.12103	T	0.63	-11.0606	16.2535	0.82498	0.0:0.8675:0.1325:0.0	.	146;285	B4DU13;Q02930	.;CREB5_HUMAN	S	252;285;278;252;111;146	ENSP00000379593:P252S;ENSP00000350359:P285S;ENSP00000379594:P278S;ENSP00000387197:P252S;ENSP00000379592:P146S	ENSP00000350359:P285S	P	+	1	0	CREB5	28810491	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.475000	0.81041	2.555000	0.86185	0.478000	0.44815	CCA	CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.592	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4		0.00	68	0	C	NM_004904		28843966	+1			no_errors	ENST00000357727	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
CSTF2	1478	genome.wustl.edu	37	X	100088347	100088347	+	Silent	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:100088347C>G	ENST00000372972.2	+	11	1402	c.1386C>G	c.(1384-1386)gcC>gcG	p.A462A	CSTF2_ENST00000415585.2_Silent_p.A482A	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	462	12 X 5 AA tandem repeats of M-E-A-R-[AG].				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GGATGGAGGCCAGAGGCATGG	0.622																																																	0													44.0	37.0	39.0					X																	100088347		2202	4300	6502	SO:0001819	synonymous_variant	0			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1386C>G	X.37:g.100088347C>G			Q5H951|Q6LA74|Q8N502	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A482	ENST00000372972.2	37	c.1446	CCDS14473.1	X																																																																																			CSTF2	-	NULL	ENSG00000101811		0.622	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	-	0.00	83	0	C	NM_001325		100088347	+1	tier1	-	no_errors	ENST00000415585	ensembl	human	known	74_37	silent	40.96	49	34	SNP	0.998	G
CYB5R1	51706	genome.wustl.edu	37	1	202935510	202935510	+	Intron	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:202935510A>G	ENST00000367249.4	-	3	313				CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1						sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	GTGGCACCTCACAGCTTGGAG	0.552																																																	0																																										SO:0001627	intron_variant	0			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.238+145T>C	1.37:g.202935510A>G			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	RNA	SNP	-	NULL	ENST00000367249.4	37	NULL	CCDS1431.1	1																																																																																			CYB5R1	-	-	ENSG00000159348		0.552	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	-	0.00	13	0	A	NM_016243		202935510	-1	tier1	-	no_errors	ENST00000478009	ensembl	human	known	74_37	rna	50.00	7	7	SNP	0.001	G
CYP24A1	1591	genome.wustl.edu	37	20	52773967	52773967	+	Missense_Mutation	SNP	C	C	T	rs539392099		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:52773967C>T	ENST00000216862.3	-	10	1787	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Missense_Mutation_p.R323H	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	465					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGCTAATCGGCGACCAATGCA	0.423													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21347	0.0		0.0	False		,,,				2504	0.0																0													89.0	83.0	85.0					20																	52773967		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1394G>A	20.37:g.52773967C>T	ENSP00000216862:p.Arg465His		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.R465H	ENST00000216862.3	37	c.1394	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	c	27.2	4.813286	0.90707	.	.	ENSG00000019186	ENST00000216862;ENST00000395954	T;T	0.70631	-0.5;-0.5	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88758	0.3255	10	0.87932	D	0	-3.7916	18.1125	0.89540	0.0:1.0:0.0:0.0	.	465;323	Q07973;Q5I2W7	CP24A_HUMAN;.	H	465;323	ENSP00000216862:R465H;ENSP00000379284:R323H	ENSP00000216862:R465H	R	-	2	0	CYP24A1	52207374	1.000000	0.71417	0.977000	0.42913	0.774000	0.43823	7.370000	0.79589	2.578000	0.87016	0.552000	0.68991	CGC	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000019186		0.423	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	-	0.00	42	0	C			52773967	-1	tier1	-	no_errors	ENST00000216862	ensembl	human	known	74_37	missense	16.38	97	19	SNP	1.000	T
DCAF5	8816	genome.wustl.edu	37	14	69522074	69522074	+	Silent	SNP	G	G	A	rs375050597		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:69522074G>A	ENST00000341516.5	-	9	1476	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	DCAF5_ENST00000556847.1_Silent_p.I361I|DCAF5_ENST00000557386.1_Silent_p.I442I|DCAF5_ENST00000554215.1_Silent_p.I361I|DCAF5_ENST00000553293.1_5'UTR	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	443					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCAGTTGGAGGATAGTACTCT	0.587																																																	0													63.0	55.0	58.0					14																	69522074		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1329C>T	14.37:g.69522074G>A			B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I443	ENST00000341516.5	37	c.1329	CCDS32106.1	14																																																																																			DCAF5	-	NULL	ENSG00000139990		0.587	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	-	0.00	47	0	G	NM_003861		69522074	-1	tier1	-	no_errors	ENST00000341516	ensembl	human	known	74_37	silent	76.32	9	29	SNP	1.000	A
DDR2	4921	genome.wustl.edu	37	1	162749971	162749971	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:162749971G>A	ENST00000367922.3	+	19	2941	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N	DDR2_ENST00000367921.3_Missense_Mutation_p.D835N|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CTGGAGAAGAGATACGAAGAA	0.483																																					NSCLC(161;314 2006 8283 19651 23192)												0													198.0	184.0	189.0					1																	162749971		2203	4300	6503	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2503G>A	1.37:g.162749971G>A	ENSP00000356899:p.Asp835Asn		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D835N	ENST00000367922.3	37	c.2503	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274132	0.40194	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.90385	-2.66;-2.66	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.196102	0.53938	D	0.000058	T	0.75796	0.3898	N	0.12746	0.255	0.29573	N	0.849727	B	0.15473	0.013	B	0.24269	0.052	T	0.70737	-0.4790	9	0.19147	T	0.46	.	18.3244	0.90248	0.0:0.0:1.0:0.0	.	835	Q16832	DDR2_HUMAN	N	835	ENSP00000356899:D835N;ENSP00000356898:D835N	ENSP00000356898:D835N	D	+	1	0	DDR2	161016595	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.294000	0.59043	2.671000	0.90904	0.650000	0.86243	GAT	DDR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000162733		0.483	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	-	0.00	41	0	G	NM_006182		162749971	+1	tier1	-	no_errors	ENST00000367921	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	A
DENND4C	55667	genome.wustl.edu	37	9	19352542	19352542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:19352542G>T	ENST00000380432.2	+	21	3838	c.3805G>T	c.(3805-3807)Gaa>Taa	p.E1269*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.E1505*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.E1554*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1269					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTTTATGATGAAGAAATTAT	0.348																																																	0													118.0	117.0	117.0					9																	19352542		2203	4300	6503	SO:0001587	stop_gained	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3805G>T	9.37:g.19352542G>T	ENSP00000369797:p.Glu1269*		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1505*	ENST00000380432.2	37	c.4513		9	.	.	.	.	.	.	.	.	.	.	G	39	7.311855	0.98203	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024;ENST00000380424	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-20.5398	18.7787	0.91922	0.0:0.0:1.0:0.0	.	.	.	.	X	1269;742;451;599;742;451;266;140	.	ENSP00000305795:E742X	E	+	1	0	DENND4C	19342542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.669000	0.90835	0.655000	0.94253	GAA	DENND4C	-	NULL	ENSG00000137145		0.348	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		-	0.00	28	0	G	NM_017925		19352542	+1	tier1	-	no_errors	ENST00000602925	ensembl	human	known	74_37	nonsense	10.71	25	3	SNP	1.000	T
DENND1A	57706	genome.wustl.edu	37	9	126220096	126220096	+	Silent	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:126220096G>T	ENST00000373624.2	-	14	1275	c.1074C>A	c.(1072-1074)gcC>gcA	p.A358A	DENND1A_ENST00000373618.1_Silent_p.A326A|DENND1A_ENST00000394219.3_Silent_p.A326A|DENND1A_ENST00000373620.3_Silent_p.A358A|DENND1A_ENST00000542603.1_Silent_p.A100A|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394215.2_Silent_p.A328A	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	358	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCAGCTGTGTGGCGTTCTGCA	0.612																																																	0													49.0	43.0	45.0					9																	126220096		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1074C>A	9.37:g.126220096G>T			A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A326	ENST00000373624.2	37	c.978	CCDS35133.1	9																																																																																			DENND1A	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000119522		0.612	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1		0.00	29	0	G	NM_024820		126220096	-1			no_errors	ENST00000394219	ensembl	human	known	74_37	silent	9.38	28	3	SNP	0.999	T
DHX58	79132	genome.wustl.edu	37	17	40262783	40262783	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:40262783G>A	ENST00000251642.3	-	5	741	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	173	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGAGGCCCCGCCAGTGCCTG	0.637																																																	0													86.0	86.0	86.0					17																	40262783		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.519C>T	17.37:g.40262783G>A			Q9HAM6	Silent	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G173	ENST00000251642.3	37	c.519	CCDS11416.1	17																																																																																			DHX58	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000108771		0.637	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	HGNC	protein_coding	OTTHUMT00000257396.1	-	0.00	20	0	G	NM_024119		40262783	-1	tier1	-	no_errors	ENST00000251642	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.400	A
DIDO1	11083	genome.wustl.edu	37	20	61511724	61511724	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:61511724C>T	ENST00000266070.4	-	16	5909	c.5584G>A	c.(5584-5586)Gag>Aag	p.E1862K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1862K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1862	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCGTCACCTCGTTATACGGG	0.612																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													49.0	53.0	52.0					20																	61511724		2203	4294	6497	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5584G>A	20.37:g.61511724C>T	ENSP00000266070:p.Glu1862Lys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E1862K	ENST00000266070.4	37	c.5584	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922825	0.33908	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10573	2.86;2.86	4.97	4.97	0.65823	.	0.515327	0.15936	N	0.237401	T	0.11537	0.0281	L	0.51422	1.61	0.58432	D	0.999998	P	0.43352	0.804	B	0.31101	0.124	T	0.16541	-1.0399	10	0.44086	T	0.13	-9.1922	18.217	0.89889	0.0:1.0:0.0:0.0	.	1862	Q9BTC0	DIDO1_HUMAN	K	1862	ENSP00000266070:E1862K;ENSP00000378752:E1862K	ENSP00000266070:E1862K	E	-	1	0	DIDO1	60982169	0.979000	0.34478	0.010000	0.14722	0.109000	0.19521	5.236000	0.65354	2.270000	0.75569	0.561000	0.74099	GAG	DIDO1	-	NULL	ENSG00000101191		0.612	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0.00	114	0	C	NM_080796		61511724	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.045	T
DMD	1756	genome.wustl.edu	37	X	32536193	32536193	+	Silent	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:32536193A>G	ENST00000357033.4	-	18	2430	c.2224T>C	c.(2224-2226)Ttg>Ctg	p.L742L	DMD_ENST00000288447.4_Silent_p.L734L|DMD_ENST00000378677.2_Silent_p.L738L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	742					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGACTCTGCAACACAGCTTCT	0.343																																																	0													64.0	58.0	60.0					X																	32536193		2201	4300	6501	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2224T>C	X.37:g.32536193A>G			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L742	ENST00000357033.4	37	c.2224	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0.00	85	0	A	NM_004006		32536193	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	23.81	48	15	SNP	0.970	G
DMD	1756	genome.wustl.edu	37	X	32834620	32834620	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:32834620A>T	ENST00000357033.4	-	6	701	c.495T>A	c.(493-495)gaT>gaA	p.D165E	DMD_ENST00000288447.4_Missense_Mutation_p.D157E|DMD_ENST00000378677.2_Missense_Mutation_p.D161E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	165	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.		D -> V (in one patient with Becker muscular dystrophy). {ECO:0000269|PubMed:12632325}.		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGCCAGGCCATCAGACCAGC	0.393																																																	0													143.0	122.0	129.0					X																	32834620		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.495T>A	X.37:g.32834620A>T	ENSP00000354923:p.Asp165Glu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.D165E	ENST00000357033.4	37	c.495	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088044	0.76642	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.97959	-4.63;-4.63;-4.63	5.51	3.03	0.35002	Calponin homology domain (5);	0.000000	0.38111	U	0.001801	D	0.99061	0.9678	H	0.97962	4.115	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.993;0.998	D;D;D;D;D	0.76575	0.979;0.988;0.979;0.987;0.988	D	0.98177	1.0455	10	0.87932	D	0	.	9.4664	0.38816	0.8522:0.0:0.1478:0.0	.	165;157;157;165;161	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	E	157;161;165;165;42;157	ENSP00000367948:D161E;ENSP00000354923:D165E;ENSP00000288447:D157E	ENSP00000288447:D157E	D	-	3	2	DMD	32744541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.152000	0.31663	0.215000	0.20761	0.486000	0.48141	GAT	DMD	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain	ENSG00000198947		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0.00	53	0	A	NM_004006		32834620	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21784569	21784569	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:21784569C>T	ENST00000409508.3	+	51	8429	c.8398C>T	c.(8398-8400)Cca>Tca	p.P2800S	DNAH11_ENST00000328843.6_Missense_Mutation_p.P2807S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2807					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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACATTACATGCCAGTGAAGGA	0.443									Kartagener syndrome																																								0													99.0	93.0	95.0					7																	21784569		1997	4166	6163	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8398C>T	7.37:g.21784569C>T	ENSP00000475939:p.Pro2800Ser		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P2807S	ENST00000409508.3	37	c.8419		7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439195	0.83885	.	.	ENSG00000105877	ENST00000328843	T	0.24151	1.87	5.4	5.4	0.78164	.	0.113336	0.64402	D	0.000011	T	0.44582	0.1300	.	.	.	0.58432	D	0.999997	D	0.67145	0.996	P	0.58266	0.836	T	0.16988	-1.0384	9	0.36615	T	0.2	.	17.7528	0.88440	0.0:1.0:0.0:0.0	.	2807	Q96DT5	DYH11_HUMAN	S	2807	ENSP00000330671:P2807S	ENSP00000330671:P2807S	P	+	1	0	DNAH11	21751094	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	7.465000	0.80898	2.538000	0.85594	0.655000	0.94253	CCA	DNAH11	-	superfamily_P-loop_NTPase	ENSG00000105877		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0.00	70	0	C	NM_003777		21784569	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
DNASE1L1	1774	genome.wustl.edu	37	X	153631069	153631069	+	Silent	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:153631069A>G	ENST00000393638.1	-	8	1174	c.888T>C	c.(886-888)ccT>ccC	p.P296P	DNASE1L1_ENST00000369809.1_Silent_p.P296P|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	296					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCACAGCTGAGGGGACAGGA	0.652																																																	0													65.0	51.0	56.0					X																	153631069		2202	4299	6501	SO:0001819	synonymous_variant	0			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.888T>C	X.37:g.153631069A>G			D3DWW7|Q5HY41	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	p.P296	ENST00000393638.1	37	c.888	CCDS14747.1	X																																																																																			DNASE1L1	-	NULL	ENSG00000013563		0.652	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	-	0.00	52	0	A			153631069	-1	tier1	-	no_errors	ENST00000014935	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.000	G
DST	667	genome.wustl.edu	37	6	56376192	56376192	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:56376192G>C	ENST00000361203.3	-	68	17630	c.17623C>G	c.(17623-17625)Cgt>Ggt	p.R5875G	DST_ENST00000446842.2_Missense_Mutation_p.R5660G|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.R3789G|DST_ENST00000244364.6_Missense_Mutation_p.R3572G|DST_ENST00000421834.2_Missense_Mutation_p.R3898G|DST_ENST00000370769.4_Missense_Mutation_p.R5986G|DST_ENST00000370754.5_Missense_Mutation_p.R6164G|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5875					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAACTCACGCAGTTGCTAT	0.448																																																	0													47.0	44.0	45.0					6																	56376192		1917	4135	6052	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17623C>G	6.37:g.56376192G>C	ENSP00000354508:p.Arg5875Gly		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R6164G	ENST00000361203.3	37	c.18490		6	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948377	0.53186	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.63	5.63	0.86233	.	0.000000	0.40640	N	0.001058	T	0.66208	0.2766	M	0.81682	2.555	0.33813	D	0.628116	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.98	T	0.63152	-0.6701	9	0.34782	T	0.22	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	3898;5986;6164;5984;3572	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	3572;6164;5986;3898;5660;3789;5875	ENSP00000244364:R3572G;ENSP00000359790:R6164G;ENSP00000359805:R5986G;ENSP00000400883:R3898G;ENSP00000393645:R5660G;ENSP00000359824:R3789G;ENSP00000354508:R5875G	ENSP00000244364:R3572G	R	-	1	0	DST	56484151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.388000	0.73195	2.652000	0.90054	0.655000	0.94253	CGT	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0.00	44	0	G	NM_001723		56376192	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	C
DTL	51514	genome.wustl.edu	37	1	212274368	212274368	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:212274368G>A	ENST00000366991.4	+	14	2350	c.2036G>A	c.(2035-2037)aGt>aAt	p.S679N	DTL_ENST00000475419.1_3'UTR|RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000542077.1_Missense_Mutation_p.S637N	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	679					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCTCCACGAAGTCCGTCATCC	0.483																																																	0													44.0	44.0	44.0					1																	212274368		2203	4300	6503	SO:0001583	missense	0			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.2036G>A	1.37:g.212274368G>A	ENSP00000355958:p.Ser679Asn		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S679N	ENST00000366991.4	37	c.2036	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366954	0.24771	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.77098	-1.0;-1.07	5.71	4.79	0.61399	.	0.206627	0.56097	D	0.000023	T	0.58452	0.2123	N	0.12746	0.255	0.09310	N	1	B;B;B	0.25850	0.136;0.084;0.084	B;B;B	0.19391	0.025;0.012;0.011	T	0.51044	-0.8755	10	0.41790	T	0.15	-10.3273	8.6992	0.34316	0.078:0.3138:0.6082:0.0	.	637;679;637	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	N	679;637;358	ENSP00000355958:S679N;ENSP00000443870:S637N	ENSP00000355958:S679N	S	+	2	0	DTL	210340991	0.900000	0.30661	0.987000	0.45799	0.985000	0.73830	2.681000	0.46926	1.404000	0.46819	0.655000	0.94253	AGT	DTL	-	NULL	ENSG00000143476		0.483	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	HGNC	protein_coding	OTTHUMT00000090182.1	-	0.00	84	0	G	NM_016448		212274368	+1	tier1	-	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	22.22	70	20	SNP	0.049	A
DTNB	1838	genome.wustl.edu	37	2	25851215	25851215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:25851215G>A	ENST00000406818.3	-	4	436	c.187C>T	c.(187-189)Cga>Tga	p.R63*	DTNB_ENST00000496972.2_Nonsense_Mutation_p.R6*|DTNB_ENST00000405222.1_Nonsense_Mutation_p.R63*|DTNB_ENST00000404103.3_Nonsense_Mutation_p.R63*|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407186.1_Nonsense_Mutation_p.R63*|DTNB_ENST00000407661.3_Nonsense_Mutation_p.R63*|DTNB_ENST00000407038.3_Nonsense_Mutation_p.R63*|DTNB_ENST00000288642.8_Nonsense_Mutation_p.R63*|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	63						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTGTCTCGGAAGGCTTCA	0.418																																																	0													86.0	79.0	81.0					2																	25851215		1916	4131	6047	SO:0001587	stop_gained	0			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.187C>T	2.37:g.25851215G>A	ENSP00000384084:p.Arg63*		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Nonsense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R63*	ENST00000406818.3	37	c.187	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.421721	0.97555	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	.	.	.	5.17	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6139	11.6627	0.51356	0.0:0.0:0.678:0.322	.	.	.	.	X	6;63;63;63;63;63;63;63;63;63	.	ENSP00000288642:R63X	R	-	1	2	DTNB	25704719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.872000	0.63050	0.546000	0.28920	0.655000	0.94253	CGA	DTNB	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin	ENSG00000138101		0.418	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1		0.00	77	0	G	NM_033147		25851215	-1			no_errors	ENST00000406818	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	A
DYNC2H1	79659	genome.wustl.edu	37	11	103025285	103025285	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:103025285G>T	ENST00000375735.2	+	23	3552	c.3408G>T	c.(3406-3408)gaG>gaT	p.E1136D	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E1136D	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1136	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)		TTTATGAAGAGTTTCAACAAG	0.353																																																	0													28.0	27.0	27.0					11																	103025285		1820	4068	5888	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.3408G>T	11.37:g.103025285G>T	ENSP00000364887:p.Glu1136Asp		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.E1136D	ENST00000375735.2	37	c.3408	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339004	0.24253	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.61980	0.06;0.06	5.16	-3.44	0.04796	Dynein heavy chain, domain-2 (1);	0.116646	0.32518	U	0.006000	T	0.43211	0.1237	L	0.33792	1.035	0.32061	N	0.595694	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.004	T	0.43798	-0.9369	10	0.12430	T	0.62	.	13.4042	0.60900	0.5272:0.0:0.4728:0.0	.	1136;1136	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	D	1136	ENSP00000364887:E1136D;ENSP00000381167:E1136D	ENSP00000364887:E1136D	E	+	3	2	DYNC2H1	102530495	0.979000	0.34478	0.976000	0.42696	0.986000	0.74619	0.145000	0.16157	-0.541000	0.06257	-0.261000	0.10672	GAG	DYNC2H1	-	pfam_Dynein_heavy_dom-2	ENSG00000187240		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	116	0	G	XM_370652		103025285	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.906	T
EDC4	23644	genome.wustl.edu	37	16	67909914	67909914	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:67909914C>T	ENST00000358933.5	+	2	388	c.149C>T	c.(148-150)cCa>cTa	p.P50L	AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	50					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTTCTGGTCCCAGACCCGCTC	0.552																																																	0													115.0	103.0	107.0					16																	67909914		2198	4300	6498	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.149C>T	16.37:g.67909914C>T	ENSP00000351811:p.Pro50Leu		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P50L	ENST00000358933.5	37	c.149	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839598	0.71488	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.91	5.91	0.95273	.	0.234439	0.45361	D	0.000373	T	0.49712	0.1573	L	0.36672	1.1	0.51482	D	0.999921	B	0.30326	0.276	B	0.26094	0.066	T	0.42241	-0.9463	9	0.37606	T	0.19	-5.9195	18.0694	0.89400	0.0:1.0:0.0:0.0	.	50	Q6P2E9	EDC4_HUMAN	L	50	.	ENSP00000351811:P50L	P	+	2	0	EDC4	66467415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.358000	0.66064	2.813000	0.96785	0.655000	0.94253	CCA	EDC4	-	NULL	ENSG00000038358		0.552	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	-	0.00	96	0	C	NM_014329		67909914	+1	tier1	-	no_errors	ENST00000358933	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
EHMT2	10919	genome.wustl.edu	37	6	31852462	31852462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:31852462delG	ENST00000375537.4	-	20	2569	c.2563delC	c.(2563-2565)ctgfs	p.L855fs	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Frame_Shift_Del_p.L821fs|EHMT2_ENST00000375528.4_Frame_Shift_Del_p.L878fs|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Frame_Shift_Del_p.L912fs	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	855					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGATGTGCAGGGGGGTGTCC	0.657																																																	0													39.0	34.0	36.0					6																	31852462		1511	2708	4219	SO:0001589	frameshift_variant	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2563delC	6.37:g.31852462delG	ENSP00000364687:p.Leu855fs		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.L912fs	ENST00000375537.4	37	c.2734	CCDS4725.1	6																																																																																			EHMT2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000204371		0.657	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5		0.00	19	0	G	NM_006709		31852462	-1	tier1		no_errors	ENST00000395728	ensembl	human	known	74_37	frame_shift_del	20.00	12	3	DEL	1.000	-
EIF2B4	8890	genome.wustl.edu	37	2	27590937	27590937	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:27590937A>T	ENST00000347454.4	-	7	831	c.660T>A	c.(658-660)agT>agA	p.S220R	AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000445933.2_Missense_Mutation_p.S219R|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000493344.2_Missense_Mutation_p.S241R|SNX17_ENST00000233575.2_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.S240R|SNX17_ENST00000537606.1_5'Flank	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	220					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|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)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGGAGCCACTGACCAGGC	0.572																																																	0													35.0	33.0	34.0					2																	27590937		2201	4296	6497	SO:0001583	missense	0			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.660T>A	2.37:g.27590937A>T	ENSP00000233552:p.Ser220Arg		Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	pfam_IF-2B-related	p.S220R	ENST00000347454.4	37	c.660	CCDS33164.1	2	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421952	0.62622	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.75	2.15	0.27550	.	0.165409	0.64402	D	0.000003	D	0.83408	0.5248	N	0.21282	0.65	0.45914	D	0.998754	P;P;B;B	0.45902	0.868;0.778;0.082;0.257	P;P;B;B	0.47075	0.536;0.536;0.105;0.103	T	0.75317	-0.3360	10	0.15066	T	0.55	-5.2648	7.8705	0.29563	0.6845:0.0:0.3155:0.0	.	217;219;220;240	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	R	220;217;219;240;241	ENSP00000233552:S220R;ENSP00000394397:S219R;ENSP00000394869:S240R;ENSP00000429323:S241R	ENSP00000233552:S220R	S	-	3	2	EIF2B4	27444441	0.122000	0.22280	1.000000	0.80357	0.999000	0.98932	-0.411000	0.07142	0.140000	0.18849	0.533000	0.62120	AGT	EIF2B4	-	pfam_IF-2B-related	ENSG00000115211		0.572	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2B4	HGNC	protein_coding	OTTHUMT00000324448.1		0.00	26	0	A			27590937	-1			no_errors	ENST00000347454	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.998	T
LINC01597	400841	genome.wustl.edu	37	20	29516628	29516628	+	lincRNA	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:29516628G>A	ENST00000380888.3	-	0	281																											ggcggagtccgggaaaagcag	0.622																																																	0																																												0																															20.37:g.29516628G>A				RNA	SNP	-	NULL	ENST00000380888.3	37	NULL		20																																																																																			RP4-610C12.4	-	-	ENSG00000205611		0.622	RP4-610C12.4-001	KNOWN	basic	lincRNA	ENSG00000205611	Clone_based_vega_gene	lincRNA	OTTHUMT00000256907.1	-	0.00	83	0	G			29516628	-1	tier1	-	no_errors	ENST00000380888	ensembl	human	known	74_37	rna	8.89	82	8	SNP	0.001	A
DPP9	91039	genome.wustl.edu	37	19	4682879	4682880	+	Intron	DEL	AG	AG	-	rs148398571		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:4682879_4682880delAG	ENST00000598800.1	-	21	2750				AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000601173.1_5'Flank|DPP9_ENST00000262960.9_Intron|DPP9_ENST00000594671.1_Intron			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGATGGGGGCAGAGAGAGAGAG	0.663																																																	0																																										SO:0001627	intron_variant	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2245-29CT>-	19.37:g.4682889_4682890delAG			O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	RNA	DEL	-	NULL	ENST00000598800.1	37	NULL		19																																																																																			AC005594.3	-	-	ENSG00000205790		0.663	DPP9-026	NOVEL	basic	protein_coding	ENSG00000205790	Clone_based_vega_gene	protein_coding	OTTHUMT00000459343.2		0.00	25	0	AG			4682880	+1	tier1		no_errors	ENST00000381796	ensembl	human	known	74_37	rna	21.43	11	3	DEL	0.000:0.006	-
AL589736.1	0	genome.wustl.edu	37	6	63393137	63393137	+	RNA	DEL	A	A	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:63393137delA	ENST00000401253.1	-	0	36																											ttttaattgcaaaaaccgcaa	0.338																																																	0																																												0																															6.37:g.63393137delA				RNA	DEL	-	NULL	ENST00000401253.1	37	NULL		6																																																																																			AL589736.1	-	-	ENSG00000216072		0.338	AL589736.1-201	NOVEL	basic	miRNA	ENSG00000216072	Clone_based_ensembl_gene	miRNA			0.00	68	0	A			63393137	-1	tier1		no_errors	ENST00000401253	ensembl	human	novel	74_37	rna	19.70	53	13	DEL	0.228	-
BOLA3	388962	genome.wustl.edu	37	2	74361865	74361865	+	IGR	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:74361865G>A	ENST00000327428.5	-	0	639				MGC10955_ENST00000401851.1_Missense_Mutation_p.V19M	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3							extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						ggaagcctccgtggctggagc	0.527																																																	0																																										SO:0001628	intergenic_variant	0			BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834		2.37:g.74361865G>A			G3XAB0	Missense_Mutation	SNP	NULL	p.V19M	ENST00000327428.5	37	c.55	CCDS33225.1	2	.	.	.	.	.	.	.	.	.	.	G	3.485	-0.105137	0.06967	.	.	ENSG00000217702	ENST00000401851	.	.	.	2.3	0.29	0.15728	.	.	.	.	.	T	0.36580	0.0972	.	.	.	.	.	.	.	.	.	.	.	.	T	0.46247	-0.9205	4	0.87932	D	0	.	2.6449	0.04981	0.1717:0.0:0.546:0.2823	.	.	.	.	M	19	.	ENSP00000384640:V19M	V	+	1	0	AC073263.1	74215373	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.096000	0.11059	0.066000	0.16515	0.655000	0.94253	GTG	MGC10955	-	NULL	ENSG00000217702		0.527	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000217702	Uniprot_gn	protein_coding	OTTHUMT00000328207.2	-	0.00	133	0	G	NM_212552		74361865	+1	tier1	-	no_errors	ENST00000401851	ensembl	human	novel	74_37	missense	55.28	55	68	SNP	0.000	A
AL136987.1	0	genome.wustl.edu	37	1	192460264	192460264	+	RNA	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:192460264G>A	ENST00000408218.1	-	0	86																											CTGAATAtgtgtgtgtgtgtg	0.333																																																	0																																												0																															1.37:g.192460264G>A				RNA	SNP	-	NULL	ENST00000408218.1	37	NULL		1																																																																																			AL136987.1	-	-	ENSG00000221145		0.333	AL136987.1-201	NOVEL	basic	miRNA	ENSG00000221145	Clone_based_ensembl_gene	miRNA		-	0.00	80	0	G			192460264	-1	tier1	-	no_errors	ENST00000408218	ensembl	human	novel	74_37	rna	5.81	81	5	SNP	0.001	A
MTHFD1L	25902	genome.wustl.edu	37	6	151361081	151361084	+	Intron	DEL	CATG	CATG	-	rs141576856|rs12215772	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	CATG	CATG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:151361081_151361084delCATG	ENST00000367321.3	+	26	3121				AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like						folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		tacatacatacatgcatacatgca	0.456																																																	0																																										SO:0001627	intron_variant	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2847+2828CATG>-	6.37:g.151361081_151361084delCATG			Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	RNA	DEL	-	NULL	ENST00000367321.3	37	NULL	CCDS5228.1	6																																																																																			AL133260.1	-	-	ENSG00000221469		0.456	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221469	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000042699.1		0.00	19	0	CATG	NM_015440		151361084	-1	tier1		no_errors	ENST00000408542	ensembl	human	novel	74_37	rna	27.27	8	3	DEL	0.002:0.003:0.003:0.004	-
Unknown	0	genome.wustl.edu	37	9	85043162	85043162	+	IGR	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:85043162C>A								RP11-15B24.1 (22008 upstream) : RP11-15B24.4 (25097 downstream)																							TCTTGTTCCTCCTGTCCCAAA	0.378																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.85043162C>A				RNA	SNP	-	NULL		37	NULL		9																																																																																			RP11-15B24.5	-	-	ENSG00000228430	0	0.378					ENSG00000228430	Clone_based_vega_gene			-	0.00	113	0	C			85043162	+1	tier1	-	no_errors	ENST00000457558	ensembl	human	known	74_37	rna	12.36	78	11	SNP	1.000	A
RP11-782C8.2	0	genome.wustl.edu	37	1	143210314	143210314	+	lincRNA	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:143210314C>T	ENST00000412204.2	-	0	756				RP11-782C8.1_ENST00000438000.1_lincRNA																							CAATTTTCATCCATCAGATCT	0.284																																																	0																																												0																															1.37:g.143210314C>T				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	-	0.00	165	0	C			143210314	-1	tier1	-	no_errors	ENST00000412204	ensembl	human	known	74_37	rna	8.41	196	18	SNP	0.045	T
EPC1	80314	genome.wustl.edu	37	10	32635985	32635985	+	5'UTR	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:32635985A>G	ENST00000263062.8	-	0	128				RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000480402.1_5'UTR|RP11-135A24.2_ENST00000417447.1_RNA|EPC1_ENST00000375110.2_Intron|AL391839.1_ENST00000410377.1_RNA|EPC1_ENST00000319778.6_5'UTR	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TCCGGGCACTAACACCAGCCG	0.672																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.-142T>C	10.37:g.32635985A>G			B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	RNA	SNP	-	NULL	ENST00000263062.8	37	NULL	CCDS7172.1	10																																																																																			RP11-135A24.4	-	-	ENSG00000233825		0.672	EPC1-004	KNOWN	basic|CCDS	protein_coding	ENSG00000233825	Clone_based_vega_gene	protein_coding	OTTHUMT00000047484.1	-	0.00	44	0	A			32635985	+1	tier1	-	no_errors	ENST00000412085	ensembl	human	known	74_37	rna	34.69	32	17	SNP	0.793	G
RBM8A	9939	genome.wustl.edu	37	1	145508406	145508406	+	Intron	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:145508406C>T	ENST00000330165.8	+	4	274				RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|GNRHR2_ENST00000312753.5_RNA|RBM8A_ENST00000369307.3_Intron|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCGCACTCACTCTATTCCTG	0.448																																																	0																																										SO:0001627	intron_variant	0			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.206-69C>T	1.37:g.145508406C>T			B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Splice_Site	SNP	-	NULL	ENST00000330165.8	37	c.NULL	CCDS916.1	1																																																																																			RP11-315I20.1	-	-	ENSG00000234222		0.448	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000234222	Clone_based_vega_gene	protein_coding	OTTHUMT00000038503.2	-	0.00	58	0	C	NM_005105		145508406	-1	tier1	-	no_errors	ENST00000596355	ensembl	human	known	74_37	splice_site	17.46	52	11	SNP	0.000	T
EGR3	1960	genome.wustl.edu	37	8	22547685	22547685	+	3'UTR	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:22547685C>T	ENST00000317216.2	-	0	1822				EGR3_ENST00000522910.1_3'UTR|EGR3_ENST00000524088.1_5'Flank|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3						cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TGGCGCGGCCCGGCGGCCCCT	0.657																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.*301G>A	8.37:g.22547685C>T			A8K8U9|B4DHJ5|E7EW38|Q2M3W2	RNA	SNP	-	NULL	ENST00000317216.2	37	NULL	CCDS6033.1	8																																																																																			RP11-459E5.1	-	-	ENSG00000253125		0.657	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000253125	Clone_based_vega_gene	protein_coding	OTTHUMT00000215098.1	-	0.00	84	0	C	NM_004430		22547685	+1	tier1	-	no_errors	ENST00000523627	ensembl	human	known	74_37	rna	33.33	32	16	SNP	0.996	T
LOC102723968	102723968	genome.wustl.edu	37	13	64411559	64411559	+	lincRNA	SNP	A	A	G	rs368700587	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:64411559A>G	ENST00000607822.1	-	0	2159				RP11-394A14.4_ENST00000606894.1_lincRNA																							AAGTTGTGCAACTGGGCGTCT	0.507													a|||	838	0.167332	0.3608	0.1571	5008	,	,		13665	0.1081		0.0875	False		,,,				2504	0.0562																0																																												0																															13.37:g.64411559A>G				RNA	SNP	-	NULL	ENST00000607822.1	37	NULL		13																																																																																			RP11-394A14.4	-	-	ENSG00000272299		0.507	RP11-394A14.2-002	KNOWN	basic	lincRNA	ENSG00000272299	Clone_based_vega_gene	lincRNA	OTTHUMT00000471084.1	-	0.00	19	0	A			64411559	-1	tier1	-	no_errors	ENST00000606894	ensembl	human	known	74_37	rna	100.00	0	3	SNP	0.492	G
C17orf51	339263	genome.wustl.edu	37	17	21476993	21476993	+	Intron	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:21476993C>T	ENST00000535846.1	-	1	219				RP11-822E23.8_ENST00000426261.2_RNA|RP11-822E23.6_ENST00000536958.2_RNA			A8MQB3	CQ051_HUMAN	chromosome 17 open reading frame 51											endometrium(1)	1						GTGTGGTCCTCTTGATCCTAG	0.577																																																	0																																										SO:0001627	intron_variant	0			BC010612	CCDS45629.1	17p11.2	2012-10-11			ENSG00000212719	ENSG00000212719			27904	protein-coding gene	gene with protein product							Standard	XM_005256621		Approved	FLJ12977, FLJ31874, FLJ33618	uc002gyw.4	A8MQB3	OTTHUMG00000132832	ENST00000535846.1:c.489+510G>A	17.37:g.21476993C>T			B2RN29|B5MCL4	RNA	SNP	-	NULL	ENST00000535846.1	37	NULL		17																																																																																			RP11-822E23.8	-	-	ENSG00000272780		0.577	C17orf51-003	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000272780	Clone_based_vega_gene	protein_coding	OTTHUMT00000395737.1	-	0.00	36	0	C	NM_001113434		21476993	-1	tier1	-	no_errors	ENST00000426261	ensembl	human	known	74_37	rna	62.50	3	5	SNP	0.003	T
CCNYL1	151195	genome.wustl.edu	37	2	208618759	208618759	+	3'UTR	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:208618759G>A	ENST00000295414.3	+	0	1628				CCNYL1_ENST00000339882.5_3'UTR|CCNYL1_ENST00000392209.3_3'UTR|MIR4775_ENST00000581168.1_RNA|RP11-801F7.1_ENST00000609146.1_RNA			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TAAATTTTTAGACTTTAAAGA	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.*337G>A	2.37:g.208618759G>A			Q6NX60	RNA	SNP	-	NULL	ENST00000295414.3	37	NULL		2																																																																																			RP11-801F7.1	-	-	ENSG00000272851		0.368	CCNYL1-003	KNOWN	basic	protein_coding	ENSG00000272851	Clone_based_vega_gene	protein_coding	OTTHUMT00000337062.1	-	0.00	55	0	G	NM_152523		208618759	-1	tier1	-	no_errors	ENST00000609146	ensembl	human	known	74_37	rna	10.77	58	7	SNP	0.991	A
EOMES	8320	genome.wustl.edu	37	3	27761677	27761677	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:27761677C>T	ENST00000295743.4	-	2	1224	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	EOMES_ENST00000537516.1_Missense_Mutation_p.D46N|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.D341N			O95936	EOMES_HUMAN	eomesodermin	341					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ATGTTATTGTCGGCTTTGCCA	0.567																																																	0													104.0	110.0	108.0					3																	27761677		2203	4300	6503	SO:0001583	missense	0			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1021G>A	3.37:g.27761677C>T	ENSP00000295743:p.Asp341Asn		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.D341N	ENST00000295743.4	37	c.1021	CCDS2646.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.684652	0.96784	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.89485	-2.52;-2.52;-2.52	4.74	4.74	0.60224	p53-like transcription factor, DNA-binding (1);	0.045090	0.85682	D	0.000000	D	0.94932	0.8361	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	P;D;D;D	0.81914	0.798;0.985;0.991;0.995	D	0.95601	0.8663	10	0.72032	D	0.01	.	17.9174	0.88955	0.0:1.0:0.0:0.0	.	55;341;341;341	B7Z4I2;F5H3K1;G3XAI5;O95936	.;.;.;EOMES_HUMAN	N	341;341;46;206	ENSP00000295743:D341N;ENSP00000388620:D341N;ENSP00000442097:D46N	ENSP00000295743:D341N	D	-	1	0	EOMES	27736681	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.590000	0.82653	2.449000	0.82847	0.563000	0.77884	GAC	EOMES	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000163508		0.567	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	-	0.00	48	0	C	NM_005442		27761677	-1	tier1	-	no_errors	ENST00000449599	ensembl	human	known	74_37	missense	41.18	29	21	SNP	1.000	T
EPB41L3	23136	genome.wustl.edu	37	18	5415841	5415841	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr18:5415841G>T	ENST00000341928.2	-	13	2383	c.2043C>A	c.(2041-2043)gaC>gaA	p.D681E	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D681E|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	681	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGTCACTCGGGTCATTGTCTA	0.577																																																	0													80.0	80.0	80.0					18																	5415841		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2043C>A	18.37:g.5415841G>T	ENSP00000343158:p.Asp681Glu		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.D681E	ENST00000341928.2	37	c.2043	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227513	0.79576	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.80909	-1.43;-1.43	5.52	5.52	0.82312	.	0.291907	0.32444	N	0.006081	T	0.74921	0.3780	N	0.24115	0.695	0.80722	D	1	D	0.57257	0.979	P	0.46718	0.525	T	0.72384	-0.4310	10	0.21540	T	0.41	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	681	Q9Y2J2	E41L3_HUMAN	E	681	ENSP00000343158:D681E;ENSP00000341138:D681E	ENSP00000343158:D681E	D	-	3	2	EPB41L3	5405841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.862000	0.69560	2.586000	0.87340	0.563000	0.77884	GAC	EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0.00	30	0	G	NM_012307		5415841	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	50.00	4	4	SNP	1.000	T
EPHB6	2051	genome.wustl.edu	37	7	142562098	142562098	+	Silent	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:142562098T>C	ENST00000392957.2	+	7	1327	c.540T>C	c.(538-540)gcT>gcC	p.A180A	EPHB6_ENST00000442129.1_Silent_p.A180A|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	180	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGCGTGGGCTGTGGGACCCC	0.627																																																	0													102.0	122.0	115.0					7																	142562098		2199	4296	6495	SO:0001819	synonymous_variant	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.540T>C	7.37:g.142562098T>C			A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.A180	ENST00000392957.2	37	c.540	CCDS5873.2	7																																																																																			EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000106123		0.627	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	-	0.00	41	0	T			142562098	+1	tier1	-	no_errors	ENST00000392957	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.218	C
ETV5	2119	genome.wustl.edu	37	3	185797825	185797825	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:185797825G>A	ENST00000306376.5	-	7	677	c.431C>T	c.(430-432)aCc>aTc	p.T144I	ETV5_ENST00000434744.1_Missense_Mutation_p.T144I|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000537818.1_Missense_Mutation_p.T186I	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	144					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 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(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATTCTGATGGGTGGGTGAGAG	0.582			T	"""TMPRSS2, SCL45A3"""	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	0													19.0	24.0	22.0					3																	185797825		2154	4257	6411	SO:0001583	missense	0			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.431C>T	3.37:g.185797825G>A	ENSP00000306894:p.Thr144Ile		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.T186I	ENST00000306376.5	37	c.557	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530107	0.27387	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.31	3.48	0.39840	PEA3-type ETS-domain transcription factor, N-terminal (1);	1.142500	0.06249	N	0.691799	T	0.12135	0.0295	N	0.08118	0	0.28915	N	0.892458	B;B	0.23316	0.02;0.083	B;B	0.25291	0.026;0.059	T	0.38308	-0.9667	10	0.19147	T	0.46	.	8.2183	0.31526	0.0857:0.1585:0.7558:0.0	.	144;186	P41161;B7Z7D7	ETV5_HUMAN;.	I	144;144;186;144	ENSP00000306894:T144I;ENSP00000413755:T144I;ENSP00000441737:T186I;ENSP00000389707:T144I	ENSP00000306894:T144I	T	-	2	0	ETV5	187280519	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.299000	0.43611	0.601000	0.29879	0.557000	0.71058	ACC	ETV5	-	pfam_ETS_PEA3_N	ENSG00000244405		0.582	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	-	0.00	46	0	G	NM_004454		185797825	-1	tier1	-	no_errors	ENST00000537818	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	A
EXOC4	60412	genome.wustl.edu	37	7	132973832	132973832	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:132973832A>G	ENST00000253861.4	+	3	462	c.433A>G	c.(433-435)Atg>Gtg	p.M145V	EXOC4_ENST00000539845.1_Missense_Mutation_p.M44V|EXOC4_ENST00000393161.2_Missense_Mutation_p.M145V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	145					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGAACAGTGCATGGCCAGCAA	0.418																																																	0													86.0	64.0	71.0					7																	132973832		2203	4300	6503	SO:0001583	missense	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.433A>G	7.37:g.132973832A>G	ENSP00000253861:p.Met145Val		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.M145V	ENST00000253861.4	37	c.433	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317909	0.60524	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	L	0.54323	1.7	0.80722	D	1	P;P	0.45715	0.865;0.66	P;B	0.57620	0.824;0.102	T	0.66344	-0.5947	9	0.21540	T	0.41	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	145;145	Q96A65;Q8TAR2	EXOC4_HUMAN;.	V	145;145;44	.	ENSP00000253861:M145V	M	+	1	0	EXOC4	132624372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.957000	0.93082	2.225000	0.72522	0.533000	0.62120	ATG	EXOC4	-	NULL	ENSG00000131558		0.418	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	-	0.00	73	0	A	NM_021807		132973832	+1	tier1	-	no_errors	ENST00000253861	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	G
EYS	346007	genome.wustl.edu	37	6	66205285	66205285	+	Missense_Mutation	SNP	C	C	T	rs377622148		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:66205285C>T	ENST00000370621.3	-	4	545	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	EYS_ENST00000503581.1_Missense_Mutation_p.V7I|EYS_ENST00000370616.2_Missense_Mutation_p.V7I|EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	7					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCAGAATGACGATTGATTTG	0.368																																																	0								T	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	62.0	60.0	61.0		19,19,19	0.5	0.0	6		61	1,8599	817.6+/-406.9	0,1,4299	no	missense,missense,missense	EYS	NM_198283.1,NM_001142801.1,NM_001142800.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	7/595,7/620,7/3145	66205285	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.19G>A	6.37:g.66205285C>T	ENSP00000359655:p.Val7Ile		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.V7I	ENST00000370621.3	37	c.19		6	.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917481	0.02396	0.0	1.16E-4	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89810	-1.59;-1.57;-1.57;-2.57;-2.52;-2.52	4.48	0.519	0.17035	.	.	.	.	.	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.45687	-0.9244	9	0.05721	T	0.95	.	3.4454	0.07478	0.1922:0.3504:0.0:0.4574	.	7;7;7	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	7	ENSP00000424243:V7I;ENSP00000359655:V7I;ENSP00000359650:V7I;ENSP00000377042:V7I;ENSP00000341818:V7I;ENSP00000359652:V7I	ENSP00000341818:V7I	V	-	1	0	EYS	66262006	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.199000	0.09491	-0.412000	0.07519	-1.496000	0.00964	GTC	EYS	-	NULL	ENSG00000188107		0.368	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	54	0	C	XM_294050		66205285	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	67.24	19	39	SNP	0.000	T
FAM3D	131177	genome.wustl.edu	37	3	58639452	58639452	+	Silent	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:58639452G>T	ENST00000358781.2	-	3	380	c.70C>A	c.(70-72)Cga>Aga	p.R24R		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	24					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		ATGTAGCTTCGAATAAACATC	0.587																																																	0													137.0	131.0	133.0					3																	58639452		2203	4300	6503	SO:0001819	synonymous_variant	0			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.70C>A	3.37:g.58639452G>T			Q547G2	Silent	SNP	NULL	p.R24	ENST00000358781.2	37	c.70	CCDS2893.1	3																																																																																			FAM3D	-	NULL	ENSG00000198643		0.587	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	HGNC	protein_coding	OTTHUMT00000353494.1		0.00	36	0	G	NM_138805		58639452	-1			no_errors	ENST00000358781	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.006	T
FAM53B	9679	genome.wustl.edu	37	10	126370884	126370884	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:126370884G>T	ENST00000337318.3	-	4	409	c.198C>A	c.(196-198)agC>agA	p.S66R	FAM53B_ENST00000280780.6_Missense_Mutation_p.S66R|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.S66R	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	66										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		ATTCCCAGATGCTGGTGCTCG	0.522																																																	0													57.0	52.0	54.0					10																	126370884		2203	4300	6503	SO:0001583	missense	0			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.198C>A	10.37:g.126370884G>T	ENSP00000338532:p.Ser66Arg		D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	NULL	p.S66R	ENST00000337318.3	37	c.198	CCDS7641.1	10	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361801	0.61403	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.50001	0.76;0.76;0.76	5.26	5.26	0.73747	.	0.176516	0.64402	D	0.000009	T	0.43831	0.1265	L	0.50333	1.59	0.45439	D	0.998419	P;P;P	0.42203	0.573;0.773;0.573	B;B;B	0.38616	0.219;0.277;0.219	T	0.47471	-0.9115	10	0.56958	D	0.05	-18.2554	14.4777	0.67559	0.073:0.0:0.927:0.0	.	66;66;66	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	R	66	ENSP00000338532:S66R;ENSP00000376509:S66R;ENSP00000280780:S66R	ENSP00000280780:S66R	S	-	3	2	FAM53B	126360874	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.172000	0.58243	2.601000	0.87937	0.655000	0.94253	AGC	FAM53B	-	NULL	ENSG00000189319		0.522	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	HGNC	protein_coding	OTTHUMT00000050879.1	-	0.00	98	0	G	NM_014661		126370884	-1	tier1	-	no_errors	ENST00000337318	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
FAM73A	374986	genome.wustl.edu	37	1	78325008	78325008	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:78325008G>A	ENST00000370791.3	+	10	1157	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	FAM73A_ENST00000443751.2_Missense_Mutation_p.M337I	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	375						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAACTGAAATGTTGGAGTGCC	0.378																																																	0													134.0	130.0	131.0					1																	78325008		2203	4300	6503	SO:0001583	missense	0				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1125G>A	1.37:g.78325008G>A	ENSP00000359827:p.Met375Ile		Q6MZG0	Missense_Mutation	SNP	pfam_DUF2217	p.M375I	ENST00000370791.3	37	c.1125	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467738	0.43839	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.24538	1.85;1.85	5.19	4.28	0.50868	.	0.286036	0.41605	D	0.000841	T	0.16599	0.0399	M	0.76002	2.32	0.52099	D	0.99994	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.002;0.005;0.005	T	0.06058	-1.0848	10	0.54805	T	0.06	-13.0364	11.0429	0.47842	0.1506:0.0:0.8494:0.0	.	337;375;375	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	I	375;337	ENSP00000359827:M375I;ENSP00000393675:M337I	ENSP00000359827:M375I	M	+	3	0	FAM73A	78097596	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	3.480000	0.53172	1.326000	0.45319	0.655000	0.94253	ATG	FAM73A	-	pfam_DUF2217	ENSG00000180488		0.378	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	-	0.00	105	0	G	NM_198549		78325008	+1	tier1	-	no_errors	ENST00000370791	ensembl	human	known	74_37	missense	8.26	100	9	SNP	1.000	A
FASTKD1	79675	genome.wustl.edu	37	2	170387869	170387869	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:170387869C>A	ENST00000453153.2	-	13	2666	c.2320G>T	c.(2320-2322)Gct>Tct	p.A774S	FASTKD1_ENST00000453929.2_Missense_Mutation_p.A731S|FASTKD1_ENST00000495505.1_5'UTR	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	774					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TACCTTTCAGCCCCTGGTGGC	0.373																																																	0													62.0	59.0	60.0					2																	170387869		2203	4300	6503	SO:0001583	missense	0			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2320G>T	2.37:g.170387869C>A	ENSP00000400513:p.Ala774Ser		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.A774S	ENST00000453153.2	37	c.2320	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853651	0.51270	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.21543	2.0;2.06	5.45	4.57	0.56435	.	4.023070	0.02415	N	0.082047	T	0.35393	0.0930	M	0.70275	2.135	0.52099	D	0.999948	P;P	0.41313	0.745;0.629	B;B	0.40659	0.336;0.181	T	0.12604	-1.0541	10	0.45353	T	0.12	-15.7708	14.4622	0.67459	0.1481:0.8519:0.0:0.0	.	731;774	Q53R41-2;Q53R41	.;FAKD1_HUMAN	S	774;731	ENSP00000400513:A774S;ENSP00000403229:A731S	ENSP00000400513:A774S	A	-	1	0	FASTKD1	170096115	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	0.466000	0.22019	1.296000	0.44742	0.650000	0.86243	GCT	FASTKD1	-	NULL	ENSG00000138399		0.373	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	-	0.00	80	0	C	NM_024622		170387869	-1	tier1	-	no_errors	ENST00000453153	ensembl	human	known	74_37	missense	5.80	63	4	SNP	1.000	A
FBXL7	23194	genome.wustl.edu	37	5	15928392	15928392	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:15928392C>T	ENST00000504595.1	+	3	1002	c.521C>T	c.(520-522)aCc>aTc	p.T174I	FBXL7_ENST00000510662.1_Missense_Mutation_p.T127I|FBXL7_ENST00000329673.7_Missense_Mutation_p.T162I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	174					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AAGGTGCTGACCCGCAGACTC	0.647																																																	0													29.0	34.0	32.0					5																	15928392		2133	4235	6368	SO:0001583	missense	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.521C>T	5.37:g.15928392C>T	ENSP00000423630:p.Thr174Ile		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.T174I	ENST00000504595.1	37	c.521	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457695	0.63401	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.51817	0.69;0.69;0.69	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.84082	2.675	0.80722	D	1	B	0.31968	0.349	B	0.29267	0.1	T	0.54649	-0.8262	10	0.10902	T	0.67	.	19.0832	0.93190	0.0:1.0:0.0:0.0	.	174	Q9UJT9	FBXL7_HUMAN	I	174;127;162	ENSP00000423630:T174I;ENSP00000425184:T127I;ENSP00000329632:T162I	ENSP00000329632:T162I	T	+	2	0	FBXL7	15981392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.520000	0.84964	0.561000	0.74099	ACC	FBXL7	-	NULL	ENSG00000183580		0.647	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	-	0.00	113	0	C	NM_012304		15928392	+1	tier1	-	no_errors	ENST00000504595	ensembl	human	known	74_37	missense	22.22	84	24	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40398136	40398136	+	Silent	SNP	C	C	T	rs587697705	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:40398136C>T	ENST00000221347.6	-	14	6838	c.6831G>A	c.(6829-6831)gcG>gcA	p.A2277A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2277	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTGGCAGGGCGCCAGCGGGC	0.706													C|||	5	0.000998403	0.0008	0.0029	5008	,	,		16631	0.0		0.002	False		,,,				2504	0.0																0													4.0	6.0	5.0					19																	40398136		1596	3035	4631	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6831G>A	19.37:g.40398136C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.A2277	ENST00000221347.6	37	c.6831	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000090920		0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0.00	35	0	C	NM_003890		40398136	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	66.67	1	2	SNP	0.318	T
FCRL5	83416	genome.wustl.edu	37	1	157490829	157490829	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:157490829C>T	ENST00000361835.3	-	11	2650	c.2493G>A	c.(2491-2493)gaG>gaA	p.E831E	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.E831E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	831	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTGTCACTGTCTCACTGCGCT	0.567																																																	0													57.0	63.0	61.0					1																	157490829		2203	4300	6503	SO:0001819	synonymous_variant	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2493G>A	1.37:g.157490829C>T			A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E831	ENST00000361835.3	37	c.2493	CCDS1165.1	1																																																																																			FCRL5	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143297		0.567	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0.00	48	0	C	NM_031281		157490829	-1	tier1	-	no_errors	ENST00000356953	ensembl	human	known	74_37	silent	7.94	58	5	SNP	0.200	T
FCRL2	79368	genome.wustl.edu	37	1	157737413	157737413	+	Intron	SNP	C	C	T	rs559480846	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:157737413C>T	ENST00000361516.3	-	6	932				FCRL2_ENST00000469986.1_Nonsense_Mutation_p.W4*|FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2						cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCATATTTTCCATTCCCACAT	0.458																																																	0													66.0	74.0	71.0					1																	157737413		2203	4300	6503	SO:0001627	intron_variant	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.884-114G>A	1.37:g.157737413C>T			A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Nonsense_Mutation	SNP	pfscan_Ig-like_dom	p.W4*	ENST00000361516.3	37	c.11	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945266	0.53079	.	.	ENSG00000132704	ENST00000469986	.	.	.	3.26	2.32	0.28847	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	5.6284	0.17495	0.0:0.8479:0.0:0.1521	.	.	.	.	X	4	.	ENSP00000417393:W4X	W	-	2	0	FCRL2	156004037	0.001000	0.12720	0.004000	0.12327	0.011000	0.07611	0.351000	0.20096	1.794000	0.52575	0.591000	0.81541	TGG	FCRL2	-	NULL	ENSG00000132704		0.458	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	-	0.00	77	0	C	NM_030764		157737413	-1	tier1	-	no_errors	ENST00000469986	ensembl	human	known	74_37	nonsense	13.43	58	9	SNP	0.002	T
FGD1	2245	genome.wustl.edu	37	X	54482155	54482155	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:54482155C>T	ENST00000375135.3	-	11	2638	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	635	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGCGTGCCCGCACGCTAAACT	0.542																																																	0													61.0	54.0	56.0					X																	54482155		2199	4295	6494	SO:0001819	synonymous_variant	0			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1905G>A	X.37:g.54482155C>T			Q5H999|Q8N4D9	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.V635	ENST00000375135.3	37	c.1905	CCDS14359.1	X																																																																																			FGD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000102302		0.542	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD1	HGNC	protein_coding	OTTHUMT00000056801.1	-	0.00	28	0	C	NM_004463		54482155	-1	tier1	-	no_errors	ENST00000375135	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.984	T
FLT3	2322	genome.wustl.edu	37	13	28623578	28623578	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:28623578A>G	ENST00000241453.7	-	8	1060	c.979T>C	c.(979-981)Tac>Cac	p.Y327H	FLT3_ENST00000380982.4_Missense_Mutation_p.Y327H|FLT3_ENST00000537084.1_Missense_Mutation_p.Y327H	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	327	Ig-like C2-type.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y327H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGTGTAGTATCCGGTGTCG	0.408			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Substitution - Missense(1)	lung(1)											236.0	209.0	218.0					13																	28623578		2203	4300	6503	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.979T>C	13.37:g.28623578A>G	ENSP00000241453:p.Tyr327His		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Y327H	ENST00000241453.7	37	c.979	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	A	5.764	0.325325	0.10900	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.22743	1.94;1.94;1.94	5.62	3.17	0.36434	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.521080	0.19732	N	0.107331	T	0.07773	0.0195	N	0.03608	-0.345	0.25638	N	0.986239	B;B	0.11235	0.003;0.004	B;B	0.14023	0.004;0.01	T	0.33189	-0.9878	10	0.19147	T	0.46	.	6.113	0.20112	0.7451:0.0:0.2549:0.0	.	327;327	P36888-2;P36888	.;FLT3_HUMAN	H	327	ENSP00000241453:Y327H;ENSP00000370369:Y327H;ENSP00000438139:Y327H	ENSP00000241453:Y327H	Y	-	1	0	FLT3	27521578	0.994000	0.37717	0.931000	0.37212	0.466000	0.32739	2.004000	0.40854	1.049000	0.40321	0.533000	0.62120	TAC	FLT3	-	pfam_Immunoglobulin,pfscan_Ig-like_dom	ENSG00000122025		0.408	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0.00	72	0	A			28623578	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	86.57	9	58	SNP	0.933	G
FMO6P	388714	genome.wustl.edu	37	1	171115569	171115569	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:171115569A>T	ENST00000236166.3	+	3	505	c.395A>T	c.(394-396)gAt>gTt	p.D132V				O60774	FMO6_HUMAN	flavin containing monooxygenase 6 pseudogene	132						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)										ACTGAAAAGGATGGGAAACAG	0.393																																																	0																																										SO:0001583	missense	0			AK130511		1q24.3	2011-08-04	2006-12-04	2006-12-04	ENSG00000117507	ENSG00000117507			24024	pseudogene	pseudogene			"""flavin containing monooxygenase 6"""	FMO6		15077013	Standard	NR_002601		Approved		uc001ghj.1	O60774	OTTHUMG00000035503	ENST00000236166.3:c.395A>T	1.37:g.171115569A>T	ENSP00000236166:p.Asp132Val			Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1	p.D132V	ENST00000236166.3	37	c.395		1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.901847	0.52227	.	.	ENSG00000117507	ENST00000236166	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70212	-0.4934	6	0.52906	T	0.07	-9.4007	14.4794	0.67570	1.0:0.0:0.0:0.0	.	.	.	.	V	132	.	ENSP00000236166:D132V	D	+	2	0	FMO6P	169382193	0.996000	0.38824	0.864000	0.33941	0.299000	0.27559	3.625000	0.54238	1.963000	0.57068	0.366000	0.22137	GAT	FMO6P	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_3	ENSG00000117507		0.393	FMO6P-003	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	FMO6P	HGNC	protein_coding	OTTHUMT00000385941.4	-	0.00	153	0	A	XM_371326		171115569	+1	tier1	-	no_errors	ENST00000236166	ensembl	human	novel	74_37	missense	56.94	61	82	SNP	0.996	T
FOXD4L6	653404	genome.wustl.edu	37	9	69200466	69200466	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:69200466A>T	ENST00000377473.1	-	1	1738	c.1147T>A	c.(1147-1149)Ttt>Att	p.F383I		NM_001085476.1	NP_001078945.1	Q3SYB3	FX4L6_HUMAN	forkhead box D4-like 6	383					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTGCTGCAAAATTGTCCGAGC	0.667																																																	0													1.0	2.0	2.0					9																	69200466		539	1622	2161	SO:0001583	missense	0				CCDS43826.1	9q12	2014-05-06			ENSG00000204793	ENSG00000273514			31986	protein-coding gene	gene with protein product							Standard	NM_001085476		Approved	OTTHUMG00000066822	uc004afi.2	Q3SYB3	OTTHUMG00000188618	ENST00000377473.1:c.1147T>A	9.37:g.69200466A>T	ENSP00000366693:p.Phe383Ile		B2RPC4|Q4V336	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F383I	ENST00000377473.1	37	c.1147	CCDS43826.1	9	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404398	0.25378	.	.	ENSG00000204793	ENST00000377473	D	0.93547	-3.24	2.35	2.35	0.29111	.	2.921470	0.02930	U	0.139105	D	0.87071	0.6086	N	0.14661	0.345	0.09310	N	1	B	0.24186	0.099	B	0.12156	0.007	T	0.77918	-0.2408	10	0.87932	D	0	.	6.5626	0.22495	1.0:0.0:0.0:0.0	.	383	Q3SYB3	FX4L6_HUMAN	I	383	ENSP00000366693:F383I	ENSP00000366693:F383I	F	-	1	0	FOXD4L6	68490286	0.001000	0.12720	0.005000	0.12908	0.354000	0.29330	1.305000	0.33493	1.074000	0.40909	0.156000	0.16432	TTT	FOXD4L6	-	NULL	ENSG00000204793		0.667	FOXD4L6-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FOXD4L6	HGNC	protein_coding	OTTHUMT00000143174.1	-	0.00	42	0	A	NM_001085476		69200466	-1	tier1	-	no_errors	ENST00000377473	ensembl	human	novel	74_37	missense	31.43	24	11	SNP	0.006	T
FOXM1	2305	genome.wustl.edu	37	12	2968143	2968143	+	Silent	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:2968143A>G	ENST00000359843.3	-	9	2021	c.1953T>C	c.(1951-1953)ccT>ccC	p.P651P	ITFG2_ENST00000545509.1_Intron|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000342628.2_Silent_p.P689P|FOXM1_ENST00000361953.3_Silent_p.P636P|Y_RNA_ENST00000410561.1_RNA	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	651					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CCAGGGGGTCAGGCAAGGGGT	0.597																																																	0													47.0	57.0	53.0					12																	2968143		2203	4299	6502	SO:0001819	synonymous_variant	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1953T>C	12.37:g.2968143A>G			O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P689	ENST00000359843.3	37	c.2067	CCDS8515.1	12																																																																																			FOXM1	-	NULL	ENSG00000111206		0.597	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1		0.00	54	0	A	NM_021953		2968143	-1			no_errors	ENST00000342628	ensembl	human	known	74_37	silent	8.70	41	4	SNP	0.733	G
FPGT-TNNI3K	100526835	genome.wustl.edu	37	1	74808621	74808621	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:74808621G>C	ENST00000370899.3	+	10	1118	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	TNNI3K_ENST00000326637.3_Missense_Mutation_p.E260Q|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E374Q|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E361Q|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.E361Q	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AAGTGATTTGGAAGTTCAACC	0.393																																																	0													204.0	185.0	192.0					1																	74808621		2203	4300	6503	SO:0001583	missense	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1081G>C	1.37:g.74808621G>C	ENSP00000359936:p.Glu361Gln			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E374Q	ENST00000370899.3	37	c.1120		1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711495	0.30322	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.64991	-0.13;-0.13;2.28;2.28;-0.13	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.112927	0.64402	D	0.000007	T	0.42743	0.1216	L	0.39020	1.185	0.47737	D	0.999507	B;B;B;P	0.45827	0.023;0.053;0.053;0.867	B;B;B;B	0.39027	0.012;0.015;0.013;0.288	T	0.35425	-0.9789	10	0.27082	T	0.32	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	260;361;361;361	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	Q	361;361;361;361;260	ENSP00000359936:E361Q;ENSP00000359932:E361Q;ENSP00000450895:E361Q;ENSP00000359928:E361Q;ENSP00000322251:E260Q	ENSP00000322251:E260Q	E	+	1	0	RP11-653A5.2;AC093158.1	74581209	1.000000	0.71417	0.933000	0.37362	0.022000	0.10575	9.343000	0.97047	2.745000	0.94114	0.650000	0.86243	GAA	FPGT-TNNI3K	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000259030		0.393	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	-	0.00	78	0	G			74808621	+1	tier1	-	no_errors	ENST00000557284	ensembl	human	known	74_37	missense	40.30	40	27	SNP	1.000	C
FREM1	158326	genome.wustl.edu	37	9	14750163	14750163	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:14750163T>A	ENST00000380880.3	-	30	6302	c.5519A>T	c.(5518-5520)aAg>aTg	p.K1840M	FREM1_ENST00000380881.4_Missense_Mutation_p.K1841M|FREM1_ENST00000380894.1_Missense_Mutation_p.K376M|FREM1_ENST00000422223.2_Missense_Mutation_p.K1840M|FREM1_ENST00000486223.1_5'Flank			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1840					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)			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)		AGCTTTTGTCTTTGTGCCAAG	0.423																																																	0													149.0	141.0	143.0					9																	14750163		1842	4093	5935	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.5519A>T	9.37:g.14750163T>A	ENSP00000370262:p.Lys1840Met		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.K1841M	ENST00000380880.3	37	c.5522	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137819	0.56936	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.51	5.51	0.81932	.	0.272591	0.39909	N	0.001223	T	0.38188	0.1031	L	0.47716	1.5	0.38659	D	0.952037	P;P	0.51240	0.943;0.943	P;P	0.52856	0.547;0.711	T	0.31752	-0.9932	10	0.49607	T	0.09	-12.7477	10.7813	0.46379	0.0:0.0738:0.0:0.9262	.	1840;376	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	M	1841;1840;376;1840	ENSP00000370263:K1841M;ENSP00000412940:K1840M;ENSP00000370278:K376M;ENSP00000370262:K1840M	ENSP00000370262:K1840M	K	-	2	0	FREM1	14740163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.695000	0.37763	2.093000	0.63338	0.460000	0.39030	AAG	FREM1	-	NULL	ENSG00000164946		0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2		0.00	62	0	T	NM_144966		14750163	-1			no_errors	ENST00000380881	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A
FSD2	123722	genome.wustl.edu	37	15	83437778	83437778	+	Silent	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:83437778A>T	ENST00000334574.8	-	9	1588	c.1407T>A	c.(1405-1407)ccT>ccA	p.P469P	FSD2_ENST00000541889.1_Silent_p.P424P			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	469	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGGGGGGAGAAGGTGCTAAAT	0.473																																																	0													38.0	40.0	39.0					15																	83437778		1938	4134	6072	SO:0001819	synonymous_variant	0			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1407T>A	15.37:g.83437778A>T			B3KVG1|B7ZM02	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.P469	ENST00000334574.8	37	c.1407	CCDS45332.1	15																																																																																			FSD2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000186628		0.473	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	HGNC	protein_coding	OTTHUMT00000418385.1	-	0.00	120	0	A	NM_001007122		83437778	-1	tier1	-	no_errors	ENST00000334574	ensembl	human	known	74_37	silent	13.27	85	13	SNP	0.903	T
FSIP2	401024	genome.wustl.edu	37	2	186657076	186657076	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:186657076T>A	ENST00000424728.1	+	16	5213	c.5213T>A	c.(5212-5214)aTt>aAt	p.I1738N	FSIP2_ENST00000343098.5_Missense_Mutation_p.I1827N|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1738										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAAAATTATTGATGAGAGA	0.353																																																	0																																										SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.5213T>A	2.37:g.186657076T>A	ENSP00000401306:p.Ile1738Asn		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.I1827N	ENST00000424728.1	37	c.5480		2	.	.	.	.	.	.	.	.	.	.	T	8.070	0.770041	0.15983	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.46063	0.88;0.88	4.3	-8.61	0.00885	.	.	.	.	.	T	0.24851	0.0603	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.33007	-0.9885	7	0.54805	T	0.06	.	2.8192	0.05467	0.2066:0.4582:0.1955:0.1398	.	.	.	.	N	1827;1738;1738	ENSP00000344403:I1827N;ENSP00000401306:I1738N	ENSP00000321903:I1738N	I	+	2	0	FSIP2	186365321	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.394000	0.00241	-2.897000	0.00313	-0.410000	0.06199	ATT	FSIP2	-	NULL	ENSG00000188738		0.353	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0.00	86	0	T	NM_173651		186657076	+1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	45.45	30	25	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	X	73289384	73289385	+	IGR	DNP	TA	TA	GC			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T|A	T|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:73289384_73289385TA>GC								RP13-36G14.4 (58081 upstream) : RP3-368A4.5 (130678 downstream)																							GCAGCAGCATTAAAGGCAGCAT	0.505																																																	0																																										SO:0001628	intergenic_variant	0																															X.37:g.73289384_73289385delinsGC				RNA	SNP	-	NULL		37	NULL		X																																																																																			FTX	-	-	ENSG00000230590	0	0.505					FTX	HGNC			-	0.00	12	0	T|A			73289384|73289385	-1	tier1	-	no_errors	ENST00000602420	ensembl	human	known	74_37	rna	100.00	0	7	SNP	1.000|0.999	G|C
FZD9	8326	genome.wustl.edu	37	7	72849721	72849721	+	Missense_Mutation	SNP	G	G	A	rs371067074		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:72849721G>A	ENST00000344575.3	+	1	1613	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	462					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCCACCTGCGTCATCGTTTG	0.622																																					Pancreas(144;909 1878 36867 38226 39554)												0								G	ILE/VAL	0,4404		0,0,2202	61.0	61.0	61.0		1384	4.5	1.0	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	FZD9	NM_003508.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	462/592	72849721	1,13003	2202	4300	6502	SO:0001583	missense	0			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1384G>A	7.37:g.72849721G>A	ENSP00000345785:p.Val462Ile			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.V462I	ENST00000344575.3	37	c.1384	CCDS5548.1	7	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254570	0.39896	0.0	1.16E-4	ENSG00000188763	ENST00000344575	D	0.83755	-1.76	4.47	4.47	0.54385	GPCR, family 2-like (1);	0.078160	0.51477	U	0.000096	D	0.86439	0.5933	M	0.72118	2.19	0.49915	D	0.99983	D	0.54047	0.964	P	0.55391	0.775	D	0.86482	0.1792	10	0.49607	T	0.09	.	10.1938	0.43043	0.0928:0.0:0.9072:0.0	.	462	O00144	FZD9_HUMAN	I	462	ENSP00000345785:V462I	ENSP00000345785:V462I	V	+	1	0	FZD9	72487657	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	8.004000	0.88535	2.189000	0.69895	0.563000	0.77884	GTC	FZD9	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000188763		0.622	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD9	HGNC	protein_coding	OTTHUMT00000252120.1	-	0.00	102	0	G			72849721	+1	tier1	-	no_errors	ENST00000344575	ensembl	human	known	74_37	missense	41.41	58	41	SNP	1.000	A
GK5	256356	genome.wustl.edu	37	3	141896352	141896352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:141896352delC	ENST00000392993.2	-	12	1266	c.1115delG	c.(1114-1116)tgtfs	p.C372fs		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	372					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TGGAACAAAACAAACTCCTTC	0.338																																																	0													114.0	120.0	118.0					3																	141896352		2203	4300	6503	SO:0001589	frameshift_variant	0			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1115delG	3.37:g.141896352delC	ENSP00000418001:p.Cys372fs		B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Frame_Shift_Del	DEL	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.C372fs	ENST00000392993.2	37	c.1115	CCDS33871.1	3																																																																																			GK5	-	pfam_Carb_kinase_FGGY_C	ENSG00000175066		0.338	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1		0.00	153	0	C	NM_001039547		141896352	-1			no_errors	ENST00000392993	ensembl	human	known	74_37	frame_shift_del	6.56	171	12	DEL	1.000	0
GLB1L3	112937	genome.wustl.edu	37	11	134183296	134183296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:134183296C>T	ENST00000431683.2	+	16	1507	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	503					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCAGGACTGCCGATACCTGAG	0.547																																																	0													44.0	48.0	47.0					11																	134183296		1992	4174	6166	SO:0001587	stop_gained	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1507C>T	11.37:g.134183296C>T	ENSP00000396615:p.Arg503*		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Nonsense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.R503*	ENST00000431683.2	37	c.1507	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185102	0.78677	.	.	ENSG00000166105	ENST00000431683	.	.	.	4.52	3.58	0.41010	.	0.320832	0.30752	N	0.008950	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	11.9247	0.52812	0.0:0.8235:0.1765:0.0	.	.	.	.	X	503	.	ENSP00000396615:R503X	R	+	1	2	GLB1L3	133688506	0.001000	0.12720	0.007000	0.13788	0.003000	0.03518	0.959000	0.29240	1.194000	0.43101	0.563000	0.77884	CGA	GLB1L3	-	NULL	ENSG00000166105		0.547	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0.00	37	0	C	NM_138416		134183296	+1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	nonsense	9.38	27	3	SNP	0.008	T
GLCE	26035	genome.wustl.edu	37	15	69548309	69548309	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:69548309G>C	ENST00000261858.2	+	3	392	c.164G>C	c.(163-165)aGa>aCa	p.R55T	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	55					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TTTGAAAAAAGAGCAGCAGCA	0.468																																																	0													90.0	88.0	89.0					15																	69548309		2200	4298	6498	SO:0001583	missense	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.164G>C	15.37:g.69548309G>C	ENSP00000261858:p.Arg55Thr		Q6GUQ2	Missense_Mutation	SNP	pfam_C5-epim	p.R55T	ENST00000261858.2	37	c.164	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959786	0.34565	.	.	ENSG00000138604	ENST00000261858	T	0.32988	1.43	5.3	3.43	0.39272	.	0.205916	0.48286	D	0.000187	T	0.28134	0.0694	L	0.54323	1.7	0.31895	N	0.616684	B	0.19817	0.039	B	0.17098	0.017	T	0.24728	-1.0152	10	0.44086	T	0.13	-26.3448	10.2353	0.43280	0.1637:0.0:0.8363:0.0	.	55	O94923	GLCE_HUMAN	T	55	ENSP00000261858:R55T	ENSP00000261858:R55T	R	+	2	0	GLCE	67335363	0.995000	0.38212	0.978000	0.43139	0.332000	0.28634	2.410000	0.44592	0.730000	0.32425	-0.150000	0.13652	AGA	GLCE	-	NULL	ENSG00000138604		0.468	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		-	0.00	117	0	G	NM_015554		69548309	+1	tier1	-	no_errors	ENST00000261858	ensembl	human	known	74_37	missense	12.09	78	11	SNP	0.944	C
GLG1	2734	genome.wustl.edu	37	16	74516995	74516995	+	Silent	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:74516995T>C	ENST00000422840.2	-	10	1598	c.1599A>G	c.(1597-1599)ttA>ttG	p.L533L	GLG1_ENST00000447066.2_Silent_p.L522L|GLG1_ENST00000205061.5_Silent_p.L533L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	533					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTCTGTGTATAAATGTTCCA	0.388																																																	0													129.0	124.0	126.0					16																	74516995		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1599A>G	16.37:g.74516995T>C			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	pfam_Cys-rich_GLG1_repeat	p.L533	ENST00000422840.2	37	c.1599	CCDS45527.1	16																																																																																			GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.388	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	-	0.00	58	0	T	NM_012201		74516995	-1	tier1	-	no_errors	ENST00000205061	ensembl	human	known	74_37	silent	72.73	9	24	SNP	0.987	C
GLT1D1	144423	genome.wustl.edu	37	12	129442176	129442176	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:129442176T>G	ENST00000442111.2	+	11	955	c.867T>G	c.(865-867)ttT>ttG	p.F289L	GLT1D1_ENST00000542193.1_Missense_Mutation_p.F206L|GLT1D1_ENST00000281703.6_Missense_Mutation_p.F209L|GLT1D1_ENST00000537468.1_Missense_Mutation_p.F294L			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	289					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGCTACTGTTTTCCAATCCTC	0.458																																																	0													131.0	122.0	125.0					12																	129442176		2203	4300	6503	SO:0001583	missense	0				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.867T>G	12.37:g.129442176T>G	ENSP00000394692:p.Phe289Leu		Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.F289L	ENST00000442111.2	37	c.867		12	.	.	.	.	.	.	.	.	.	.	T	12.68	2.009298	0.35415	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.6	-5.12	0.02893	.	0.057431	0.64402	D	0.000001	D	0.82806	0.5117	M	0.67569	2.06	0.40232	D	0.977852	D;D	0.63880	0.982;0.993	P;P	0.55391	0.758;0.775	D	0.83591	0.0123	10	0.59425	D	0.04	-27.8995	16.2541	0.82503	0.0:0.1509:0.0:0.8491	.	294;209	F5H088;Q96MS3-2	.;.	L	289;209;294;206	ENSP00000394692:F289L;ENSP00000281703:F209L;ENSP00000438158:F294L;ENSP00000437500:F206L	ENSP00000281703:F209L	F	+	3	2	GLT1D1	128008129	0.699000	0.27786	0.037000	0.18230	0.061000	0.15899	-0.327000	0.07955	-1.225000	0.02578	0.533000	0.62120	TTT	GLT1D1	-	pfam_Glyco_trans_1	ENSG00000151948		0.458	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	-	0.00	80	0	T	NM_144669		129442176	+1	tier1	-	no_errors	ENST00000442111	ensembl	human	known	74_37	missense	20.43	74	19	SNP	0.890	G
GPATCH3	63906	genome.wustl.edu	37	1	27226872	27226872	+	Missense_Mutation	SNP	G	G	T	rs148620476		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:27226872G>T	ENST00000361720.5	-	1	85	c.62C>A	c.(61-63)cCc>cAc	p.P21H		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	21							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CAACACGGAGGGGATACCGCT	0.597																																																	0								G	HIS/PRO	0,4406		0,0,2203	41.0	40.0	41.0		62	5.5	1.0	1	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPATCH3	NM_022078.2	77	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	21/526	27226872	1,13005	2203	4300	6503	SO:0001583	missense	0			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.62C>A	1.37:g.27226872G>T	ENSP00000354645:p.Pro21His		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.P21H	ENST00000361720.5	37	c.62	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990959	0.74703	0.0	1.16E-4	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.66815	-0.23	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83253	-0.0052	10	0.87932	D	0	-19.4217	17.3578	0.87341	0.0:0.0:1.0:0.0	.	21	Q96I76	GPTC3_HUMAN	H	21	ENSP00000354645:P21H	ENSP00000354645:P21H	P	-	2	0	GPATCH3	27099459	1.000000	0.71417	0.952000	0.39060	0.161000	0.22273	7.681000	0.84073	2.854000	0.98071	0.655000	0.94253	CCC	GPATCH3	-	NULL	ENSG00000198746		0.597	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	-	0.00	90	0	G	NM_022078		27226872	-1	tier1	rs148620476	no_errors	ENST00000361720	ensembl	human	known	74_37	missense	5.38	88	5	SNP	1.000	T
GREB1L	80000	genome.wustl.edu	37	18	18964298	18964298	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr18:18964298G>T	ENST00000580732.2	+	4	670	c.289G>T	c.(289-291)Gat>Tat	p.D97Y	GREB1L_ENST00000578368.1_3'UTR|GREB1L_ENST00000424526.1_Missense_Mutation_p.D97Y|GREB1L_ENST00000431264.1_Missense_Mutation_p.D97Y|GREB1L_ENST00000269218.6_Missense_Mutation_p.D97Y|GREB1L_ENST00000400483.4_Missense_Mutation_p.D97Y|RP11-296E23.1_ENST00000584611.1_RNA			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	97						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						AGAAATGTCTGATTCAAACAG	0.378																																																	0													104.0	87.0	92.0					18																	18964298		692	1591	2283	SO:0001583	missense	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.289G>T	18.37:g.18964298G>T	ENSP00000464162:p.Asp97Tyr		A4QN17|Q9H8F1	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.D97Y	ENST00000580732.2	37	c.289	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719578	0.68844	.	.	ENSG00000141449	ENST00000424526;ENST00000269218;ENST00000400483;ENST00000431264	T;T;T;T	0.19669	2.86;2.85;2.13;2.13	5.35	5.35	0.76521	.	.	.	.	.	T	0.41858	0.1177	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.63046	0.992;0.992	P;P	0.59761	0.863;0.79	T	0.10941	-1.0608	9	0.66056	D	0.02	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	97;97	Q9C091;Q9C091-2	GRB1L_HUMAN;.	Y	97	ENSP00000412060:D97Y;ENSP00000269218:D97Y;ENSP00000383331:D97Y;ENSP00000393125:D97Y	ENSP00000269218:D97Y	D	+	1	0	GREB1L	17218296	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.062000	0.93920	2.941000	0.99782	0.655000	0.94253	GAT	GREB1L	-	NULL	ENSG00000141449		0.378	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	-	0.00	96	0	G	NM_024935		18964298	+1	tier1	-	no_errors	ENST00000424526	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
GRIA1	2890	genome.wustl.edu	37	5	153190725	153190725	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:153190725G>A	ENST00000285900.5	+	16	3004	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	GRIA1_ENST00000340592.5_Missense_Mutation_p.M887I|GRIA1_ENST00000518142.1_Missense_Mutation_p.M807I|GRIA1_ENST00000448073.4_Missense_Mutation_p.M897I|GRIA1_ENST00000521843.2_Missense_Mutation_p.M818I|GRIA1_ENST00000518783.1_Missense_Mutation_p.M897I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	887					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)	CCAAGTCCATGCAATCGATTC	0.622																																																	0													60.0	57.0	58.0					5																	153190725		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.2661G>A	5.37:g.153190725G>A	ENSP00000285900:p.Met887Ile		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.M897I	ENST00000285900.5	37	c.2691	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535889	0.45176	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.03	5.03	0.67393	.	0.044281	0.85682	D	0.000000	T	0.47116	0.1428	N	0.14661	0.345	0.49389	D	0.999789	B;B;B;B;B	0.22480	0.042;0.042;0.053;0.07;0.001	B;B;B;B;B	0.15484	0.006;0.006;0.008;0.013;0.002	T	0.40478	-0.9561	10	0.40728	T	0.16	.	17.3487	0.87316	0.0:0.0:1.0:0.0	.	897;897;807;887;887	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	I	887;887;807;887;820;818;897;897	ENSP00000285900:M887I;ENSP00000427920:M807I;ENSP00000339343:M887I;ENSP00000427864:M820I;ENSP00000442108:M818I;ENSP00000428994:M897I;ENSP00000415569:M897I	ENSP00000285900:M887I	M	+	3	0	GRIA1	153170918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.777000	0.68931	2.330000	0.79161	0.561000	0.74099	ATG	GRIA1	-	NULL	ENSG00000155511		0.622	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3		0.00	66	0	G			153190725	+1			no_errors	ENST00000448073	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A
GRID1	2894	genome.wustl.edu	37	10	87487698	87487698	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:87487698C>T	ENST00000327946.7	-	10	1532	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	GRID1_ENST00000536331.1_Missense_Mutation_p.E54K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	483					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGGTAAATCTCATATTTAAAG	0.542										Multiple Myeloma(13;0.14)																																							0													159.0	153.0	155.0					10																	87487698		2203	4300	6503	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1447G>A	10.37:g.87487698C>T	ENSP00000330148:p.Glu483Lys		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E483K	ENST00000327946.7	37	c.1447	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675285	0.67928	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.32272	1.46;1.46	5.7	5.7	0.88788	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.329895	0.36932	N	0.002328	T	0.28732	0.0712	L	0.43598	1.365	0.80722	D	1	B	0.24317	0.101	B	0.19946	0.027	T	0.05937	-1.0855	10	0.16420	T	0.52	.	18.8088	0.92050	0.0:1.0:0.0:0.0	.	483	Q9ULK0	GRID1_HUMAN	K	483;54	ENSP00000330148:E483K;ENSP00000444455:E54K	ENSP00000330148:E483K	E	-	1	0	GRID1	87477678	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.037000	0.70956	2.688000	0.91661	0.603000	0.83216	GAG	GRID1	-	pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	ENSG00000182771		0.542	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3		0.00	79	0	C	XM_043613		87487698	-1			no_errors	ENST00000327946	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
GRIK5	2901	genome.wustl.edu	37	19	42510094	42510094	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:42510094G>A	ENST00000262895.3	-	16	2043	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	GRIK5_ENST00000593562.1_Missense_Mutation_p.R682W|GRIK5_ENST00000301218.4_Missense_Mutation_p.R682W	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	682					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GTTTGGTACCGTGAATTCTGG	0.577																																																	0													83.0	61.0	69.0					19																	42510094		2203	4299	6502	SO:0001583	missense	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2044C>T	19.37:g.42510094G>A	ENSP00000262895:p.Arg682Trp		Q8WWG8	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.R682W	ENST00000262895.3	37	c.2044	CCDS12595.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.931797|3.931797	0.73442|0.73442	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000262895;ENST00000301218|ENST00000454993	T;T|.	0.11385|.	2.78;2.78|.	4.79|4.79	2.51|2.51	0.30379|0.30379	Ionotropic glutamate receptor (2);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.62159|0.62159	0.2405|0.2405	L|L	0.58583|0.58583	1.82|1.82	0.54753|0.54753	D|D	0.999985|0.999985	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.57837|0.57837	-0.7742|-0.7742	10|5	0.87932|.	D|.	0|.	.|.	12.2063|12.2063	0.54355|0.54355	0.0:0.0:0.6901:0.3099|0.0:0.0:0.6901:0.3099	.|.	682|.	Q16478|.	GRIK5_HUMAN|.	W|M	682|58	ENSP00000262895:R682W;ENSP00000301218:R682W|.	ENSP00000262895:R682W|.	R|T	-|-	1|2	2|0	GRIK5|GRIK5	47201934|47201934	0.989000|0.989000	0.36119|0.36119	0.723000|0.723000	0.30687|0.30687	0.867000|0.867000	0.49689|0.49689	2.263000|2.263000	0.43293|0.43293	0.385000|0.385000	0.24970|0.24970	0.557000|0.557000	0.71058|0.71058	CGG|ACG	GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000105737		0.577	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	-	0.00	24	0	G			42510094	-1	tier1	-	no_errors	ENST00000301218	ensembl	human	known	74_37	missense	85.71	3	18	SNP	0.991	A
GSN	2934	genome.wustl.edu	37	9	124046875	124046875	+	Intron	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:124046875C>A	ENST00000373823.3	+	9	896				GSN-AS1_ENST00000414544.1_RNA|RP11-477J21.6_ENST00000437135.1_RNA|GSN_ENST00000373808.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_5'Flank|GSN_ENST00000394353.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000449733.1_Intron			P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GTTGGGCATTCCAGGCAAGAA	0.587																																																	0																																										SO:0001627	intron_variant	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373823.3:c.-10+3035C>A	9.37:g.124046875C>A			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	-	NULL	ENST00000373823.3	37	NULL	CCDS6829.1	9																																																																																			GSN-AS1	-	-	ENSG00000235865		0.587	GSN-013	KNOWN	basic|appris_principal|CCDS	protein_coding	GSN-AS1	HGNC	protein_coding	OTTHUMT00000254323.3	-	0.00	67	0	C	NM_000177		124046875	-1	tier1	-	no_errors	ENST00000414544	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.001	A
HCN1	348980	genome.wustl.edu	37	5	45262384	45262384	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:45262384G>A	ENST00000303230.4	-	8	2369	c.2312C>T	c.(2311-2313)aCg>aTg	p.T771M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	771					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAGCGCCTGCGTGCTCTTGTG	0.632																																																	0													77.0	75.0	76.0					5																	45262384		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2312C>T	5.37:g.45262384G>A	ENSP00000307342:p.Thr771Met			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.T771M	ENST00000303230.4	37	c.2312	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163237	0.78226	.	.	ENSG00000164588	ENST00000303230	T	0.77620	-1.11	5.32	5.32	0.75619	.	0.085627	0.49305	D	0.000147	T	0.81322	0.4798	L	0.40543	1.245	0.43462	D	0.995669	D	0.76494	0.999	P	0.56088	0.791	T	0.82406	-0.0473	10	0.54805	T	0.06	.	19.0098	0.92868	0.0:0.0:1.0:0.0	.	771	O60741	HCN1_HUMAN	M	771	ENSP00000307342:T771M	ENSP00000307342:T771M	T	-	2	0	HCN1	45298141	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	7.823000	0.86660	2.491000	0.84063	0.655000	0.94253	ACG	HCN1	-	NULL	ENSG00000164588		0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	44	0	G	NM_021072		45262384	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	42.11	22	16	SNP	1.000	A
HERC2P4	100289574	genome.wustl.edu	37	16	32163470	32163470	+	IGR	SNP	T	T	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:32163470T>G								RP11-1166P10.6 (67364 upstream) : HERC2P4 (17834 downstream)																							ATGTGACACGTCCGCATGTCA	0.512																																																	0																																										SO:0001628	intergenic_variant	0																															16.37:g.32163470T>G				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	ENSG00000230267	0	0.512					HERC2P4	HGNC			-	0.00	206	0	T			32163470	-1	tier1	-	no_errors	ENST00000563904	ensembl	human	known	74_37	rna	29.13	73	30	SNP	0.996	G
HSF5	124535	genome.wustl.edu	37	17	56544263	56544263	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:56544263G>T	ENST00000323777.3	-	3	1112	c.1003C>A	c.(1003-1005)Cac>Aac	p.H335N		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	335					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGTTGCAGTGTGCATAGGAA	0.418																																																	0													182.0	147.0	159.0					17																	56544263		2203	4300	6503	SO:0001583	missense	0			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1003C>A	17.37:g.56544263G>T	ENSP00000313243:p.His335Asn		Q08EH7|Q8N7V2	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.H335N	ENST00000323777.3	37	c.1003	CCDS32690.1	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292562	0.80914	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.71579	-0.58	6.08	6.08	0.98989	.	0.121832	0.56097	D	0.000031	T	0.76535	0.4001	L	0.27053	0.805	0.44462	D	0.997395	D	0.63880	0.993	D	0.70227	0.968	T	0.77811	-0.2449	10	0.66056	D	0.02	.	17.3914	0.87432	0.0:0.0:1.0:0.0	.	335	Q4G112	HSF5_HUMAN	N	235;335	ENSP00000313243:H335N	ENSP00000313243:H335N	H	-	1	0	HSF5	53899262	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.217000	0.58547	2.894000	0.99253	0.591000	0.81541	CAC	HSF5	-	NULL	ENSG00000176160		0.418	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	-	0.00	79	0	G	XM_064190		56544263	-1	tier1	-	no_errors	ENST00000323777	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
HSP90AB2P	391634	genome.wustl.edu	37	4	13339813	13339813	+	RNA	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:13339813G>C	ENST00000602906.1	+	0	1164							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						AGAAACTTTAGATAAGAAGGT	0.488																																																	0																																												0			AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339813G>C				RNA	SNP	-	NULL	ENST00000602906.1	37	NULL		4																																																																																			HSP90AB2P	-	-	ENSG00000205940		0.488	HSP90AB2P-001	KNOWN	basic	processed_transcript	HSP90AB2P	HGNC	pseudogene	OTTHUMT00000359156.2	-	0.00	114	0	G			13339813	+1	tier1	-	no_errors	ENST00000602906	ensembl	human	known	74_37	rna	12.00	44	6	SNP	1.000	C
HUWE1	10075	genome.wustl.edu	37	X	53576031	53576031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:53576031delC	ENST00000342160.3	-	66	10381	c.9924delG	c.(9922-9924)gggfs	p.G3308fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.G3308fs|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3308					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TATGTTTACGCCCCCCTGAAC	0.527																																																	0													96.0	70.0	79.0					X																	53576031		2203	4300	6503	SO:0001589	frameshift_variant	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9924delG	X.37:g.53576031delC	ENSP00000340648:p.Gly3308fs		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Del	DEL	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R3309fs	ENST00000342160.3	37	c.9924	CCDS35301.1	X																																																																																			HUWE1	-	NULL	ENSG00000086758		0.527	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1		0.00	21	0	C	XM_497119		53576031	-1	tier1		no_errors	ENST00000262854	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.001	-
IGF2	3481	genome.wustl.edu	37	11	2167570	2167570	+	Intron	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:2167570C>A	ENST00000300632.5	-	2	720				IGF2-AS_ENST00000445504.2_RNA|INS-IGF2_ENST00000481781.1_5'Flank|IGF2-AS_ENST00000381361.3_RNA|IGF2-AS_ENST00000381363.4_RNA	NM_001007139.4	NP_001007140.2	P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GAGCGCCCCTCCGTCACCCCC	0.687																																																	0													66.0	72.0	70.0					11																	2167570		1910	4117	6027	SO:0001627	intron_variant	0			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000300632.5:c.5+1225G>T	11.37:g.2167570C>A			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	RNA	SNP	-	NULL	ENST00000300632.5	37	NULL	CCDS7728.1	11	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061195	0.19987	.	.	ENSG00000099869	ENST00000381363	.	.	.	2.01	-0.00449	0.14022	.	.	.	.	.	T	0.51126	0.1656	.	.	.	0.09310	N	1	D	0.57899	0.981	P	0.61328	0.887	T	0.38650	-0.9651	7	0.87932	D	0	.	4.3839	0.11307	0.0:0.6291:0.0:0.3709	.	134	Q6U949	IG2AS_HUMAN	T	134	.	ENSP00000370766:P134T	P	+	1	0	IGF2AS	2124146	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.056000	0.14256	0.003000	0.14656	0.462000	0.41574	CCG	IGF2-AS	-	-	ENSG00000099869		0.687	IGF2-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2-AS	HGNC	protein_coding			0.00	54	0	C	NM_000612		2167570	+1			no_errors	ENST00000381361	ensembl	human	known	74_37	rna	5.26	72	4	SNP	0.001	A
IGSF6	10261	genome.wustl.edu	37	16	21655704	21655704	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:21655704G>A	ENST00000268389.4	-	3	502	c.441C>T	c.(439-441)ctC>ctT	p.L147L	RNU6-1005P_ENST00000384519.1_RNA|RNU6-196P_ENST00000384315.1_RNA|METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	147					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		GTTCCTTGCTGAGCAGCTTAA	0.423																																																	0													88.0	79.0	82.0					16																	21655704		2199	4300	6499	SO:0001819	synonymous_variant	0			AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.441C>T	16.37:g.21655704G>A			Q8WWD8	Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L147	ENST00000268389.4	37	c.441	CCDS10599.1	16																																																																																			IGSF6	-	NULL	ENSG00000140749		0.423	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF6	HGNC	protein_coding	OTTHUMT00000207400.1	-	0.00	27	0	G			21655704	-1	tier1	-	no_errors	ENST00000268389	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.737	A
ILF3	3609	genome.wustl.edu	37	19	10787873	10787873	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:10787873C>T	ENST00000590261.1	+	4	446	c.446C>T	c.(445-447)tCt>tTt	p.S149F	ILF3_ENST00000407004.3_Missense_Mutation_p.S149F|ILF3_ENST00000449870.1_Missense_Mutation_p.S149F|ILF3_ENST00000420083.1_Missense_Mutation_p.S149F|ILF3_ENST00000592763.1_Missense_Mutation_p.S149F|ILF3_ENST00000588657.1_Missense_Mutation_p.S149F|ILF3_ENST00000250241.8_Missense_Mutation_p.S149F|ILF3_ENST00000318511.3_Missense_Mutation_p.S149F|ILF3_ENST00000589998.1_Missense_Mutation_p.S149F			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	149	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S149F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ATACTGCAATCTGTCGACGAT	0.398																																																	1	Substitution - Missense(1)	breast(1)											130.0	126.0	128.0					19																	10787873		2203	4300	6503	SO:0001583	missense	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.446C>T	19.37:g.10787873C>T	ENSP00000468156:p.Ser149Phe		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.S149F	ENST00000590261.1	37	c.446	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083949	0.76642	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.7	5.7	0.88788	DZF (2);	0.537337	0.20644	N	0.088350	T	0.53270	0.1786	L	0.47016	1.485	0.33540	D	0.594732	D;D;P;P;P	0.60160	0.983;0.987;0.942;0.911;0.63	P;P;P;B;B	0.54346	0.633;0.749;0.708;0.346;0.188	T	0.61486	-0.7053	10	0.33940	T	0.23	.	13.5533	0.61745	0.1559:0.8441:0.0:0.0	.	149;149;149;149;149	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	F	149	ENSP00000404121:S149F;ENSP00000315205:S149F;ENSP00000405436:S149F;ENSP00000384660:S149F;ENSP00000250241:S149F	ENSP00000250241:S149F	S	+	2	0	ILF3	10648873	0.792000	0.28813	0.955000	0.39395	0.981000	0.71138	1.709000	0.37909	2.676000	0.91093	0.650000	0.86243	TCT	ILF3	-	pfam_DZF,smart_DZF	ENSG00000129351		0.398	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1		0.00	60	0	C			10787873	+1			no_errors	ENST00000449870	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.809	T
IMPACT	55364	genome.wustl.edu	37	18	22008835	22008835	+	Silent	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr18:22008835G>T	ENST00000284202.4	+	3	309	c.168G>T	c.(166-168)gtG>gtT	p.V56V	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	56	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CATTGTAGGTGATGCTGCCGA	0.368																																																	0													125.0	111.0	116.0					18																	22008835		2203	4300	6503	SO:0001819	synonymous_variant	0			AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.168G>T	18.37:g.22008835G>T			A8MXG0|Q49AM0|Q9H2X4	Silent	SNP	pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.V56	ENST00000284202.4	37	c.168	CCDS11886.1	18																																																																																			IMPACT	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000154059		0.368	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPACT	HGNC	protein_coding	OTTHUMT00000254901.1		0.00	99	0	G	NM_018439		22008835	+1			no_errors	ENST00000284202	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T
INO80D	54891	genome.wustl.edu	37	2	206921201	206921201	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:206921201C>T	ENST00000403263.1	-	4	1089	c.685G>A	c.(685-687)Gtc>Atc	p.V229I		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	229					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						GACTTGCAGACTGAACCCTGC	0.562																																																	0													87.0	95.0	92.0					2																	206921201		2118	4233	6351	SO:0001583	missense	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.685G>A	2.37:g.206921201C>T	ENSP00000384198:p.Val229Ile		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.V229I	ENST00000403263.1	37	c.685	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781964	0.49891	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.32515	1.5;1.45	5.84	4.96	0.65561	.	0.301114	0.36374	N	0.002628	T	0.20129	0.0484	N	0.14661	0.345	0.39944	D	0.974455	B	0.02656	0.0	B	0.04013	0.001	T	0.03807	-1.1002	10	0.33141	T	0.24	.	14.7238	0.69329	0.0:0.931:0.0:0.069	.	229	Q53TQ3-2	.	I	229;229;124	ENSP00000384198:V229I;ENSP00000402369:V124I	ENSP00000233270:V229I	V	-	1	0	INO80D	206629446	1.000000	0.71417	0.981000	0.43875	0.959000	0.62525	2.594000	0.46189	1.479000	0.48272	0.655000	0.94253	GTC	INO80D	-	NULL	ENSG00000114933		0.562	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1		0.00	49	0	C	NM_017759		206921201	-1			no_errors	ENST00000403263	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
INSR	3643	genome.wustl.edu	37	19	7117386	7117386	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:7117386G>T	ENST00000302850.5	-	22	3972	c.3830C>A	c.(3829-3831)cCc>cAc	p.P1277H	INSR_ENST00000341500.5_Missense_Mutation_p.P1265H	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCTCATCTTGGGGTTGAATTG	0.597																																																	0													102.0	92.0	95.0					19																	7117386		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3830C>A	19.37:g.7117386G>T	ENSP00000303830:p.Pro1277His		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.P1277H	ENST00000302850.5	37	c.3830	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665678	0.88251	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.92545	-3.06;-3.06	5.14	5.14	0.70334	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000330	D	0.96433	0.8836	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.96866	0.9636	10	0.87932	D	0	.	16.1617	0.81721	0.0:0.0:1.0:0.0	.	1265;1277	P06213-2;P06213	.;INSR_HUMAN	H	1277;1265	ENSP00000303830:P1277H;ENSP00000342838:P1265H	ENSP00000303830:P1277H	P	-	2	0	INSR	7068386	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.228000	0.95250	2.667000	0.90743	0.563000	0.77884	CCC	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171105		0.597	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	-	0.00	42	0	G			7117386	-1	tier1	-	no_errors	ENST00000302850	ensembl	human	known	74_37	missense	41.30	27	19	SNP	1.000	T
IPO5	3843	genome.wustl.edu	37	13	98645242	98645242	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:98645242G>T	ENST00000490680.1	+	7	831	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	IPO5_ENST00000261574.5_Nonsense_Mutation_p.E274*|IPO5_ENST00000539640.1_Nonsense_Mutation_p.E131*			O00410	IPO5_HUMAN	importin 5	256					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TCCTCACTTGGAAGCAACTCT	0.363																																																	0													121.0	113.0	116.0					13																	98645242		2203	4300	6503	SO:0001587	stop_gained	0			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.766G>T	13.37:g.98645242G>T	ENSP00000418393:p.Glu256*		B4DZA0|O15257|Q5T578|Q86XC7	Nonsense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.E274*	ENST00000490680.1	37	c.820		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.829562|8.829562	0.98970|0.98970	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.042540|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81302	.|0.4794	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78306	.|-0.2255	.|3	0.19590|.	T|.	0.45|.	-7.6751|-7.6751	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	274;256;256;131|257	.|.	ENSP00000261574:E274X|.	E|W	+|+	1|3	0|0	IPO5|IPO5	97443243|97443243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.167000|9.167000	0.94773|0.94773	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|TGG	IPO5	-	superfamily_ARM-type_fold	ENSG00000065150		0.363	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	-	0.00	129	0	G	NM_002271		98645242	+1	tier1	-	no_errors	ENST00000261574	ensembl	human	known	74_37	nonsense	7.20	116	9	SNP	1.000	T
IQSEC1	9922	genome.wustl.edu	37	3	12949999	12949999	+	Missense_Mutation	SNP	C	C	T	rs562700735	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:12949999C>T	ENST00000273221.4	-	12	2863	c.2647G>A	c.(2647-2649)Gtg>Atg	p.V883M		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	883					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCCGCACGACGCCTTTC	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		17798	0.001		0.0	False		,,,				2504	0.001																0													69.0	76.0	73.0					3																	12949999		2203	4300	6503	SO:0001583	missense	0			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2647G>A	3.37:g.12949999C>T	ENSP00000273221:p.Val883Met		O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.V883M	ENST00000273221.4	37	c.2647	CCDS33703.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.722|0.722	-0.782999|-0.782999	0.02907|0.02907	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.48201	.|0.82;0.82	4.99|4.99	3.21|3.21	0.36854|0.36854	.|.	.|0.118078	.|0.56097	.|N	.|0.000025	T|T	0.35278|0.35278	0.0926|0.0926	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999982|0.999982	.|P;P;P	.|0.47106	.|0.496;0.89;0.627	.|B;B;B	.|0.38562	.|0.056;0.276;0.056	T|T	0.06826|0.06826	-1.0805|-1.0805	4|9	.|0.40728	.|T	.|0.16	.|.	8.8892|8.8892	0.35423|0.35423	0.0:0.7693:0.0:0.2307|0.0:0.7693:0.0:0.2307	.|.	.|869;869;883	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	H|M	883|883;869;869	.|ENSP00000273221:V883M;ENSP00000402299:V869M	.|ENSP00000273221:V883M	R|V	-|-	2|1	0|0	IQSEC1|IQSEC1	12924999|12924999	0.996000|0.996000	0.38824|0.38824	0.622000|0.622000	0.29159|0.29159	0.124000|0.124000	0.20399|0.20399	3.389000|3.389000	0.52516|0.52516	0.522000|0.522000	0.28464|0.28464	-0.749000|-0.749000	0.03505|0.03505	CGT|GTG	IQSEC1	-	NULL	ENSG00000144711		0.632	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	-	0.00	60	0	C	NM_014869		12949999	-1	tier1	-	no_errors	ENST00000273221	ensembl	human	known	74_37	missense	19.40	54	13	SNP	0.979	T
ITGA9	3680	genome.wustl.edu	37	3	37785459	37785459	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:37785459C>T	ENST00000264741.5	+	22	2623	c.2367C>T	c.(2365-2367)gaC>gaT	p.D789D	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	789					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)		AGTCCGTGGACGCAGCCAACT	0.522																																																	0													170.0	138.0	149.0					3																	37785459		2203	4300	6503	SO:0001819	synonymous_variant	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.2367C>T	3.37:g.37785459C>T			Q14638	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D789	ENST00000264741.5	37	c.2367	CCDS2669.1	3																																																																																			ITGA9	-	pfam_Integrin_alpha-2	ENSG00000144668		0.522	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	-	0.00	53	0	C	NM_002207		37785459	+1	tier1	-	no_errors	ENST00000264741	ensembl	human	known	74_37	silent	11.29	55	7	SNP	0.000	T
KCNA4	3739	genome.wustl.edu	37	11	30032617	30032617	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:30032617C>A	ENST00000328224.6	-	2	2842	c.1609G>T	c.(1609-1611)Ggc>Tgc	p.G537C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	537					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ACAATCTTGCCCCCTACAGTG	0.498																																																	0													59.0	62.0	61.0					11																	30032617		2188	4296	6484	SO:0001583	missense	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1609G>T	11.37:g.30032617C>A	ENSP00000328511:p.Gly537Cys			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G537C	ENST00000328224.6	37	c.1609	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750692	0.69533	.	.	ENSG00000182255	ENST00000328224	D	0.98313	-4.86	5.69	5.69	0.88448	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	H	0.99951	5.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97166	0.9841	10	0.87932	D	0	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	537	P22459	KCNA4_HUMAN	C	537	ENSP00000328511:G537C	ENSP00000328511:G537C	G	-	1	0	KCNA4	29989193	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.679000	0.91253	0.650000	0.86243	GGC	KCNA4	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000182255		0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	-	0.00	79	0	C	NM_002233		30032617	-1	tier1	-	no_errors	ENST00000328224	ensembl	human	known	74_37	missense	34.21	50	26	SNP	1.000	A
KCNG1	3755	genome.wustl.edu	37	20	49621054	49621054	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:49621054C>T	ENST00000371571.4	-	3	1349	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	355					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGCGCCAGGCGCATCACGTA	0.731																																																	0													11.0	16.0	15.0					20																	49621054		2155	4204	6359	SO:0001583	missense	0			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1064G>A	20.37:g.49621054C>T	ENSP00000360626:p.Arg355His		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R355H	ENST00000371571.4	37	c.1064	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	C	30	5.051175	0.93740	.	.	ENSG00000026559	ENST00000371571	D	0.98455	-4.94	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99353	1.0915	9	.	.	.	.	18.7343	0.91749	0.0:1.0:0.0:0.0	.	355	Q9UIX4	KCNG1_HUMAN	H	355	ENSP00000360626:R355H	.	R	-	2	0	KCNG1	49054461	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.688000	0.84153	2.429000	0.82318	0.306000	0.20318	CGC	KCNG1	-	pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv	ENSG00000026559		0.731	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	-	0.00	26	0	C	NM_002237		49621054	-1	tier1	-	no_errors	ENST00000371571	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	T
KCNH6	81033	genome.wustl.edu	37	17	61621399	61621399	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:61621399T>G	ENST00000583023.1	+	11	2271	c.2260T>G	c.(2260-2262)Ttc>Gtc	p.F754V	KCNH6_ENST00000314672.5_Intron|KCNH6_ENST00000456941.2_Intron|KCNH6_ENST00000581784.1_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	754					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGGGCCCCAGTTCCCCTCTAA	0.642																																																	0													20.0	21.0	21.0					17																	61621399		2201	4298	6499	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2260T>G	17.37:g.61621399T>G	ENSP00000463533:p.Phe754Val		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.F754V	ENST00000583023.1	37	c.2260	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	t	9.723	1.160315	0.21454	.	.	ENSG00000173826	ENST00000314672	.	.	.	3.98	-7.95	0.01148	.	6.999440	0.00357	N	0.000037	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	9	0.15499	T	0.54	.	0.7634	0.01011	0.1979:0.2026:0.3061:0.2935	.	754	Q9H252	KCNH6_HUMAN	V	754	.	ENSP00000318212:F754V	F	+	1	0	KCNH6	58975131	0.000000	0.05858	0.000000	0.03702	0.452000	0.32318	-3.292000	0.00524	-2.604000	0.00449	-0.344000	0.07964	TTC	KCNH6	-	NULL	ENSG00000173826		0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	-	0.00	51	0	T	NM_030779		61621399	+1	tier1	-	no_errors	ENST00000583023	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.000	G
KDM2B	84678	genome.wustl.edu	37	12	121891050	121891050	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:121891050G>A	ENST00000377071.4	-	13	1904	c.1832C>T	c.(1831-1833)aCg>aTg	p.T611M	KDM2B_ENST00000536437.1_Missense_Mutation_p.T494M|KDM2B_ENST00000542973.1_De_novo_Start_InFrame|KDM2B_ENST00000377069.4_Missense_Mutation_p.T580M	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	611					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCGGCATCGCGTCCGGCGCCG	0.701																																																	0													13.0	17.0	16.0					12																	121891050		1965	4139	6104	SO:0001583	missense	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1832C>T	12.37:g.121891050G>A	ENSP00000366271:p.Thr611Met		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.T611M	ENST00000377071.4	37	c.1832	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927433	0.92389	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.48836	2.23;1.64;0.8	5.18	5.18	0.71444	Zinc finger, CXXC-type (2);	0.000000	0.53938	D	0.000054	T	0.67069	0.2854	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.966;0.999;0.966;0.999	T	0.68743	-0.5328	10	0.72032	D	0.01	-16.9356	18.8727	0.92322	0.0:0.0:1.0:0.0	.	51;494;611;580;51	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	M	611;580;611;494;611;51;611	ENSP00000366269:T580M;ENSP00000366271:T611M;ENSP00000445196:T494M	ENSP00000261824:T611M	T	-	2	0	KDM2B	120375433	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.521000	0.73778	2.694000	0.91930	0.555000	0.69702	ACG	KDM2B	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000089094		0.701	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	-	0.00	48	0	G	NM_032590		121891050	-1	tier1	-	no_errors	ENST00000377071	ensembl	human	known	74_37	missense	12.50	34	5	SNP	1.000	A
KEL	3792	genome.wustl.edu	37	7	142649645	142649645	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:142649645C>T	ENST00000355265.2	-	10	1628	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	385					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCTTTCTGCGTGCCTCCTG	0.537																																																	0													129.0	105.0	113.0					7																	142649645		2203	4300	6503	SO:0001583	missense	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1154G>A	7.37:g.142649645C>T	ENSP00000347409:p.Arg385His		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R385H	ENST00000355265.2	37	c.1154	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606768	0.28623	.	.	ENSG00000197993	ENST00000355265	T	0.74315	-0.83	5.28	-3.34	0.04943	Peptidase M13 (1);	0.577109	0.16657	N	0.204921	T	0.49440	0.1557	N	0.12471	0.22	0.23298	N	0.997953	B	0.19706	0.038	B	0.15484	0.013	T	0.33369	-0.9871	10	0.19590	T	0.45	-4.7168	11.0716	0.48006	0.0:0.3644:0.0:0.6356	.	385	P23276	KELL_HUMAN	H	385	ENSP00000347409:R385H	ENSP00000347409:R385H	R	-	2	0	KEL	142359767	0.012000	0.17670	0.164000	0.22755	0.922000	0.55478	-0.243000	0.08915	-0.563000	0.06078	-0.136000	0.14681	CGC	KEL	-	pfam_Peptidase_M13_N	ENSG00000197993		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	HGNC	protein_coding	OTTHUMT00000347671.2	-	0.00	49	0	C	NM_000420		142649645	-1	tier1	-	no_errors	ENST00000355265	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.084	T
KIAA0196	9897	genome.wustl.edu	37	8	126059506	126059506	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:126059506T>A	ENST00000318410.7	-	20	2796	c.2447A>T	c.(2446-2448)gAg>gTg	p.E816V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E668V|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	816					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CGTTACAGACTCATCCACAGG	0.428																																																	0													122.0	112.0	115.0					8																	126059506		2203	4300	6503	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2447A>T	8.37:g.126059506T>A	ENSP00000318016:p.Glu816Val		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.E816V	ENST00000318410.7	37	c.2447	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.38|16.38	3.105783|3.105783	0.56291|0.56291	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86562|.	-2.14;-2.14|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50837|0.50837	0.1639|0.1639	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;D|.	0.62365|.	0.014;0.991|.	B;D|.	0.78314|.	0.008;0.991|.	T|T	0.48080|0.48080	-0.9066|-0.9066	10|5	0.30078|.	T|.	0.28|.	-21.3073|-21.3073	15.4462|15.4462	0.75232|0.75232	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	668;816|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	V|C	816;668|433	ENSP00000318016:E816V;ENSP00000429676:E668V|.	ENSP00000318016:E816V|.	E|S	-|-	2|1	0|0	KIAA0196|KIAA0196	126128688|126128688	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.950000|0.950000	0.60333|0.60333	8.028000|8.028000	0.88798|0.88798	2.068000|2.068000	0.61886|0.61886	0.459000|0.459000	0.35465|0.35465	GAG|AGT	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.428	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	-	0.00	87	0	T	NM_014846		126059506	-1	tier1	-	no_errors	ENST00000318410	ensembl	human	known	74_37	missense	8.65	95	9	SNP	1.000	A
KIAA1549L	25758	genome.wustl.edu	37	11	33566864	33566864	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:33566864A>T	ENST00000321505.4	+	2	2614	c.2434A>T	c.(2434-2436)Act>Tct	p.T812S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T818S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T818S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	812						integral component of membrane (GO:0016021)											AGTGGTCACGACTGGCAAAAT	0.537																																																	0													32.0	38.0	36.0					11																	33566864		2121	4250	6371	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2434A>T	11.37:g.33566864A>T	ENSP00000315295:p.Thr812Ser		B0QYU0	Missense_Mutation	SNP	NULL	p.T818S	ENST00000321505.4	37	c.2452	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	A	2.365	-0.345727	0.05208	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.81	-0.962	0.10333	.	0.509084	0.21145	N	0.079407	T	0.29190	0.0726	L	0.60455	1.87	0.09310	N	1	B;B	0.18863	0.031;0.001	B;B	0.11329	0.006;0.002	T	0.15407	-1.0438	9	0.25751	T	0.34	-0.4002	2.8052	0.05425	0.5464:0.2189:0.1274:0.1073	.	818;818	E9PAT2;Q6ZVL6-2	.;.	S	812;818;818;651	.	ENSP00000265654:T818S	T	+	1	0	C11orf41	33523440	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.275000	0.18698	-0.372000	0.07992	-1.967000	0.00467	ACT	KIAA1549L	-	NULL	ENSG00000110427		0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0.00	42	0	A	NM_012194		33566864	+1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.000	T
KIAA2022	340533	genome.wustl.edu	37	X	73963510	73963510	+	Nonsense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:73963510G>C	ENST00000055682.6	-	3	1493	c.882C>G	c.(880-882)taC>taG	p.Y294*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	294					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATCAAACATGTAGTTATCCA	0.383																																																	0													120.0	104.0	109.0					X																	73963510		2203	4300	6503	SO:0001587	stop_gained	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.882C>G	X.37:g.73963510G>C	ENSP00000055682:p.Tyr294*		A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	NULL	p.Y294*	ENST00000055682.6	37	c.882	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.892277	0.98545	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	5.83	0.407	0.16371	.	0.144538	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3617	11.3508	0.49587	0.371:0.0:0.629:0.0	.	.	.	.	X	294	.	ENSP00000055682:Y294X	Y	-	3	2	KIAA2022	73880235	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	0.457000	0.21875	-0.008000	0.14320	-0.190000	0.12839	TAC	KIAA2022	-	NULL	ENSG00000050030		0.383	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2		0.00	18	0	G	NM_001008537		73963510	-1			no_errors	ENST00000055682	ensembl	human	known	74_37	nonsense	12.90	27	4	SNP	1.000	C
KIF26B	55083	genome.wustl.edu	37	1	245848714	245848714	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:245848714C>T	ENST00000407071.2	+	12	2869	c.2429C>T	c.(2428-2430)tCc>tTc	p.S810F	KIF26B_ENST00000366518.4_Missense_Mutation_p.S429F	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	810					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGTACACATCCAGCTCGTCC	0.652																																																	0													43.0	49.0	47.0					1																	245848714		2170	4262	6432	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2429C>T	1.37:g.245848714C>T	ENSP00000385545:p.Ser810Phe		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S810F	ENST00000407071.2	37	c.2429	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907970	0.52333	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.79749	-1.3;-1.26	5.84	5.84	0.93424	.	.	.	.	.	D	0.91267	0.7247	M	0.84683	2.71	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.78314	0.991;0.963	D	0.91743	0.5406	9	0.87932	D	0	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	429;810	B7WPD9;Q2KJY2	.;KI26B_HUMAN	F	810;429;426	ENSP00000385545:S810F;ENSP00000355475:S429F	ENSP00000355475:S429F	S	+	2	0	KIF26B	243915337	1.000000	0.71417	0.289000	0.24876	0.199000	0.23934	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	TCC	KIF26B	-	NULL	ENSG00000162849		0.652	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0.00	52	0	C	XM_371354		245848714	+1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.999	T
KLK1	3816	genome.wustl.edu	37	19	51323186	51323186	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:51323186C>T	ENST00000301420.2	-	4	637	c.602G>A	c.(601-603)gGa>gAa	p.G201E	KLK1_ENST00000448701.2_Missense_Mutation_p.G99E|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	201	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	TTCCAGGTGTCCGACACACAG	0.557																																																	0													92.0	74.0	80.0					19																	51323186		2203	4300	6503	SO:0001583	missense	0			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.602G>A	19.37:g.51323186C>T	ENSP00000301420:p.Gly201Glu		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G201E	ENST00000301420.2	37	c.602	CCDS12804.1	19	.	.	.	.	.	.	.	.	.	.	c	14.46	2.541120	0.45280	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.90324	-2.65;-2.65	2.91	2.91	0.33838	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95063	0.8401	M	0.88640	2.97	0.42549	D	0.993103	D	0.76494	0.999	D	0.83275	0.996	D	0.94924	0.8076	9	0.87932	D	0	.	9.5216	0.39138	0.0:1.0:0.0:0.0	.	201	P06870	KLK1_HUMAN	E	201;99	ENSP00000301420:G201E;ENSP00000400994:G99E	ENSP00000301420:G201E	G	-	2	0	KLK1	56014998	0.998000	0.40836	0.843000	0.33291	0.021000	0.10359	6.213000	0.72194	1.937000	0.56155	0.306000	0.20318	GGA	KLK1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167748		0.557	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK1	HGNC	protein_coding	OTTHUMT00000464135.2	-	0.00	58	0	C	NM_002257		51323186	-1	tier1	-	no_errors	ENST00000301420	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.992	T
LCE2C	353140	genome.wustl.edu	37	1	152648708	152648708	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:152648708C>G	ENST00000368783.1	+	2	272	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	73	Cys-rich.				keratinization (GO:0031424)			p.L73L(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGCTCCCTGAGCCACCA	0.662																																																	1	Substitution - coding silent(1)	skin(1)											52.0	62.0	58.0					1																	152648708		2203	4300	6503	SO:0001583	missense	0				CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.217C>G	1.37:g.152648708C>G	ENSP00000357772:p.Leu73Val			Missense_Mutation	SNP	NULL	p.L73V	ENST00000368783.1	37	c.217	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	C	0.917	-0.716984	0.03206	.	.	ENSG00000187180	ENST00000368783	T	0.09630	2.96	3.15	2.22	0.28083	.	.	.	.	.	T	0.06188	0.0160	M	0.79805	2.47	0.20489	N	0.999898	B	0.15141	0.012	B	0.15052	0.012	T	0.27123	-1.0083	9	0.54805	T	0.06	.	8.3725	0.32423	0.0:0.7569:0.2431:0.0	.	73	Q5TA81	LCE2C_HUMAN	V	73	ENSP00000357772:L73V	ENSP00000357772:L73V	L	+	1	2	LCE2C	150915332	0.992000	0.36948	0.998000	0.56505	0.027000	0.11550	0.121000	0.15667	0.667000	0.31107	-0.217000	0.12591	CTG	LCE2C	-	NULL	ENSG00000187180		0.662	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	HGNC	protein_coding	OTTHUMT00000034509.1	-	0.00	102	0	C	NM_178429		152648708	+1	tier1	-	no_errors	ENST00000368783	ensembl	human	known	74_37	missense	10.10	89	10	SNP	0.991	G
LCN2	3934	genome.wustl.edu	37	9	130913920	130913920	+	Silent	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:130913920A>G	ENST00000373017.1	+	4	516	c.279A>G	c.(277-279)aaA>aaG	p.K93K	LCN2_ENST00000372998.1_Intron|LCN2_ENST00000540948.1_Silent_p.K93K|LCN2_ENST00000373013.2_Silent_p.K95K|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Silent_p.K93K			P80188	NGAL_HUMAN	lipocalin 2	93					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						TCCCAAGGAAAAAGAAGTGTG	0.582																																																	0													62.0	49.0	53.0					9																	130913920		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.279A>G	9.37:g.130913920A>G			A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln	p.K95	ENST00000373017.1	37	c.285	CCDS6892.1	9																																																																																			LCN2	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000148346		0.582	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LCN2	HGNC	protein_coding	OTTHUMT00000054375.1		0.00	105	0	A	NM_005564		130913920	+1			no_errors	ENST00000373013	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.000	G
LDHD	197257	genome.wustl.edu	37	16	75149180	75149180	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:75149180C>T	ENST00000450168.2	-	3	293	c.243G>A	c.(241-243)ctG>ctA	p.L81L	LDHD_ENST00000300051.4_Silent_p.L81L	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						ACAGGGCTGCCAGCCGGCTGA	0.647																																																	0													98.0	99.0	98.0					16																	75149180		2198	4300	6498	SO:0001819	synonymous_variant	0			AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.243G>A	16.37:g.75149180C>T				Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.L81	ENST00000450168.2	37	c.243	CCDS45529.1	16																																																																																			LDHD	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	ENSG00000166816		0.647	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000434651.1	-	0.00	44	0	C	NM_153486		75149180	-1	tier1	-	no_errors	ENST00000300051	ensembl	human	known	74_37	silent	27.27	16	6	SNP	1.000	T
LEPRE1	64175	genome.wustl.edu	37	1	43212460	43212460	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:43212460G>T	ENST00000296388.5	-	15	2170	c.2119C>A	c.(2119-2121)Cag>Aag	p.Q707K	LEPRE1_ENST00000236040.4_3'UTR|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_3'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	707					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCTGCTCCTGGGAGAGGTCC	0.597																																																	0													56.0	67.0	63.0					1																	43212460		692	1591	2283	SO:0001583	missense	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.2119C>A	1.37:g.43212460G>T	ENSP00000296388:p.Gln707Lys		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.Q707K	ENST00000296388.5	37	c.2119	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926444	0.34002	.	.	ENSG00000117385	ENST00000296388;ENST00000540027	T	0.31769	1.48	5.12	3.14	0.36123	.	.	.	.	.	T	0.18759	0.0450	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05022	-1.0911	9	0.27785	T	0.31	.	10.5472	0.45066	0.0:0.0:0.6514:0.3486	.	707	Q32P28	P3H1_HUMAN	K	707;572	ENSP00000296388:Q707K	ENSP00000296388:Q707K	Q	-	1	0	LEPRE1	42985047	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.287000	0.33284	1.376000	0.46267	0.655000	0.94253	CAG	LEPRE1	-	NULL	ENSG00000117385		0.597	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2		0.00	58	0	G	NM_022356		43212460	-1			no_errors	ENST00000296388	ensembl	human	known	74_37	missense	5.13	72	4	SNP	1.000	T
LETM2	137994	genome.wustl.edu	37	8	38250446	38250446	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:38250446A>T	ENST00000379957.4	+	3	561	c.434A>T	c.(433-435)aAa>aTa	p.K145I	LETM2_ENST00000519476.2_Missense_Mutation_p.K145I|LETM2_ENST00000523983.2_Missense_Mutation_p.K98I|LETM2_ENST00000524874.1_Missense_Mutation_p.K145I|LETM2_ENST00000297720.5_Missense_Mutation_p.K98I	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	145	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ATTGACGCCAAAGTTGCTGCC	0.393																																																	0													63.0	63.0	63.0					8																	38250446		2203	4300	6503	SO:0001583	missense	0			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.434A>T	8.37:g.38250446A>T	ENSP00000369291:p.Lys145Ile		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	pfam_LETM1	p.K145I	ENST00000379957.4	37	c.434		8	.	.	.	.	.	.	.	.	.	.	A	32	5.153979	0.94645	.	.	ENSG00000165046	ENST00000519476;ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.75	5.75	0.90469	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.988;1.0;1.0	D	0.84770	0.0767	10	0.87932	D	0	.	16.0518	0.80769	1.0:0.0:0.0:0.0	.	145;145;145	Q2VYF4;E9PMA4;A8K1M9	LETM2_HUMAN;.;.	I	145;98;145;145;98	ENSP00000429269:K145I;ENSP00000297720:K98I;ENSP00000431211:K145I;ENSP00000369291:K145I;ENSP00000428765:K98I	ENSP00000297720:K98I	K	+	2	0	LETM2	38369603	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.942000	0.75928	2.191000	0.70037	0.533000	0.62120	AAA	LETM2	-	pfam_LETM1	ENSG00000165046		0.393	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	HGNC	protein_coding	OTTHUMT00000381816.1	-	0.00	54	0	A	NM_144652		38250446	+1	tier1	-	no_errors	ENST00000379957	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
LHCGR	3973	genome.wustl.edu	37	2	48982684	48982684	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:48982684G>A	ENST00000294954.7	-	1	148	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	LHCGR_ENST00000405626.1_Missense_Mutation_p.R43C|LHCGR_ENST00000344775.3_Missense_Mutation_p.R43C|LHCGR_ENST00000403273.1_Missense_Mutation_p.R43C|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.R43C	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	43	LRRNT.				activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCGGGGCAGCGCAGGGCGCCG	0.711																																																	0													5.0	8.0	7.0					2																	48982684		1567	2800	4367	SO:0001583	missense	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.127C>T	2.37:g.48982684G>A	ENSP00000294954:p.Arg43Cys		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R43C	ENST00000294954.7	37	c.127	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289437	0.59976	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907;ENST00000428232	D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.42	1.58	0.23477	Leucine-rich repeat-containing N-terminal (1);	0.717063	0.13807	N	0.361408	T	0.81418	0.4818	N	0.08118	0	0.40786	D	0.983214	D	0.69078	0.997	P	0.53988	0.739	T	0.73777	-0.3876	9	.	.	.	.	6.9181	0.24371	0.0:0.1722:0.4723:0.3555	.	43	P22888	LSHR_HUMAN	C	43;43;43;43;43;9	ENSP00000344301:R43C;ENSP00000294954:R43C;ENSP00000386033:R43C;ENSP00000385847:R43C;ENSP00000385406:R43C;ENSP00000403748:R9C	.	R	-	1	0	LHCGR	48836188	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	0.585000	0.23879	0.125000	0.18397	-1.094000	0.02160	CGC	LHCGR	-	prints_LSH_rcpt	ENSG00000138039		0.711	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	-	0.00	57	0	G	NM_000233.3		48982684	-1	tier1	-	no_errors	ENST00000294954	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	A
LINC01207	100505989	genome.wustl.edu	37	4	165691579	165691579	+	lincRNA	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:165691579G>C	ENST00000507311.1	+	0	290					NR_038834.1																						AGGTGAAGAAGTTTTCGGTGG	0.393																																																	0																																												0																															4.37:g.165691579G>C				RNA	SNP	-	NULL	ENST00000507311.1	37	NULL		4																																																																																			RP11-294O2.2	-	-	ENSG00000248771		0.393	RP11-294O2.2-001	KNOWN	basic	lincRNA	LOC100505989	Clone_based_vega_gene	lincRNA	OTTHUMT00000364323.1	-	0.00	74	0	G			165691579	+1	tier1	-	no_errors	ENST00000507311	ensembl	human	known	74_37	rna	11.76	30	4	SNP	0.000	C
CLIP3	25999	genome.wustl.edu	37	19	36510260	36510260	+	Intron	SNP	G	G	A	rs375643025		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:36510260G>A	ENST00000360535.4	-	8	1146				CLIP3_ENST00000593074.1_Intron|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3						chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGAGGCCAACGTGGAGTGCCC	0.617																																																	0								G	,	0,2654		0,0,1327	35.0	29.0	31.0		,	-2.8	0.0	19		31	1,4617		0,1,2308	no	intron,intron	CLIP3	NM_001199570.1,NM_015526.2	,	0,1,3635	AA,AG,GG		0.0217,0.0,0.0138	,	,	36510260	1,7271	1327	2309	3636	SO:0001627	intron_variant	0			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.919-52C>T	19.37:g.36510260G>A			A8K0E4|Q8WWL1|Q96C99|Q9UFT7	RNA	SNP	-	NULL	ENST00000360535.4	37	NULL	CCDS12486.1	19																																																																																			AC002116.7	-	-	ENSG00000267698		0.617	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927572	Clone_based_vega_gene	protein_coding	OTTHUMT00000457426.1	-	0.00	31	0	G	NM_015526		36510260	+1	tier1	-	no_errors	ENST00000586962	ensembl	human	known	74_37	rna	83.33	4	20	SNP	0.000	A
LOC202181	202181	genome.wustl.edu	37	5	177099140	177099140	+	RNA	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:177099140T>A	ENST00000515045.1	-	0	70					NR_026921.1																						GATCACGATGTAATCCTCCAT	0.756																																																	0																																												0																															5.37:g.177099140T>A				RNA	SNP	-	NULL	ENST00000515045.1	37	NULL		5																																																																																			RP11-1277A3.2	-	-	ENSG00000246596		0.756	RP11-1277A3.2-002	KNOWN	basic	processed_transcript	LOC202181	Clone_based_vega_gene	pseudogene	OTTHUMT00000373167.1		0.00	22	0	T			177099140	-1			no_errors	ENST00000515045	ensembl	human	known	74_37	rna	18.75	13	3	SNP	0.986	A
LOC285556	285556	genome.wustl.edu	37	4	100573624	100573624	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:100573624T>C	ENST00000511828.1	-	1	2181	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V																								ACATGTTTGATTTCCCCCTCG	0.597																																																	0																																										SO:0001583	missense	0																														ENST00000511828.1:c.2182A>G	4.37:g.100573624T>C	ENSP00000427555:p.Ile728Val			Missense_Mutation	SNP	NULL	p.I728V	ENST00000511828.1	37	c.2182		4	.	.	.	.	.	.	.	.	.	.	T	12.31	1.901032	0.33535	.	.	ENSG00000248713	ENST00000511828	T	0.17528	2.27	4.66	4.66	0.58398	.	.	.	.	.	T	0.13372	0.0324	N	0.14661	0.345	.	.	.	.	.	.	.	.	.	T	0.13202	-1.0518	6	0.54805	T	0.06	.	8.6399	0.33970	0.0:0.0861:0.0:0.9139	.	.	.	.	V	728	ENSP00000427555:I728V	ENSP00000427555:I728V	I	-	1	0	RP11-766F14.2	100792647	0.989000	0.36119	0.964000	0.40570	0.980000	0.70556	2.169000	0.42434	1.957000	0.56846	0.533000	0.62120	ATC	RP11-766F14.2	-	NULL	ENSG00000248713		0.597	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	-	0.00	101	0	T			100573624	-1	tier1	-	no_errors	ENST00000511828	ensembl	human	putative	74_37	missense	29.09	39	16	SNP	0.926	C
LPIN1	23175	genome.wustl.edu	37	2	11944685	11944685	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:11944685G>T	ENST00000256720.2	+	15	2135	c.2042G>T	c.(2041-2043)gGg>gTg	p.G681V	LPIN1_ENST00000449576.2_Missense_Mutation_p.G766V|LPIN1_ENST00000425416.2_Missense_Mutation_p.G687V|LPIN1_ENST00000396099.1_Missense_Mutation_p.G723V|LPIN1_ENST00000404113.2_Missense_Mutation_p.G182V|LPIN1_ENST00000396097.1_Missense_Mutation_p.G411V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	681	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GATATTGATGGGACAATTACC	0.527																																																	0													114.0	101.0	105.0					2																	11944685		2203	4300	6503	SO:0001583	missense	0			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2042G>T	2.37:g.11944685G>T	ENSP00000256720:p.Gly681Val		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.G766V	ENST00000256720.2	37	c.2297	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074055	0.55646	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	4.75	4.75	0.60458	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.995;0.997	D	0.98314	1.0525	10	0.87932	D	0	-29.4012	18.6476	0.91416	0.0:0.0:1.0:0.0	.	182;766;681	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	V	766;723;687;681;411;182	ENSP00000397908:G766V;ENSP00000379406:G723V;ENSP00000401522:G687V;ENSP00000256720:G681V;ENSP00000379404:G411V;ENSP00000386120:G182V	ENSP00000256720:G681V	G	+	2	0	LPIN1	11862136	1.000000	0.71417	0.137000	0.22149	0.027000	0.11550	9.345000	0.97053	2.586000	0.87340	0.655000	0.94253	GGG	LPIN1	-	pfam_LNS2,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	ENSG00000134324		0.527	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	-	0.00	66	0	G	NM_145693		11944685	+1	tier1	-	no_errors	ENST00000449576	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
LRIG3	121227	genome.wustl.edu	37	12	59270234	59270234	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:59270234G>A	ENST00000320743.3	-	16	2974	c.2688C>T	c.(2686-2688)gaC>gaT	p.D896D	LRIG3_ENST00000379141.4_Silent_p.D836D	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	896					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TACCACTACTGTCATGTTGTG	0.408			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													93.0	82.0	86.0					12																	59270234		2203	4300	6503	SO:0001819	synonymous_variant	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2688C>T	12.37:g.59270234G>A			Q6UXL7|Q8NC72	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D896	ENST00000320743.3	37	c.2688	CCDS8960.1	12																																																																																			LRIG3	-	NULL	ENSG00000139263		0.408	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	-	0.00	74	0	G	NM_153377		59270234	-1	tier1	-	no_errors	ENST00000320743	ensembl	human	known	74_37	silent	50.70	35	36	SNP	0.998	A
LRRC66	339977	genome.wustl.edu	37	4	52861277	52861277	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:52861277C>T	ENST00000343457.3	-	4	1917	c.1911G>A	c.(1909-1911)caG>caA	p.Q637Q		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	637						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACAGCCTTGGCTGCTGTATGC	0.532																																																	0													69.0	68.0	68.0					4																	52861277		2002	4174	6176	SO:0001819	synonymous_variant	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1911G>A	4.37:g.52861277C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q637	ENST00000343457.3	37	c.1911	CCDS43229.1	4																																																																																			LRRC66	-	NULL	ENSG00000188993		0.532	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	-	0.00	46	0	C	NM_001024611		52861277	-1	tier1	-	no_errors	ENST00000343457	ensembl	human	known	74_37	silent	18.18	17	4	SNP	0.017	T
LRRFIP2	9209	genome.wustl.edu	37	3	37154444	37154444	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:37154444T>A	ENST00000336686.4	-	8	480	c.400A>T	c.(400-402)Atg>Ttg	p.M134L	LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.M134L|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.M103L			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	134	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTCTTCTTCATTCCATGAGAG	0.333																																																	1	Whole gene deletion(1)	ovary(1)											123.0	126.0	125.0					3																	37154444		2203	4300	6503	SO:0001583	missense	0			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.400A>T	3.37:g.37154444T>A	ENSP00000338727:p.Met134Leu		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.M134L	ENST00000336686.4	37	c.400	CCDS2664.1	3	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467547	0.26335	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.39592	1.07;1.07;1.11	5.52	3.12	0.35913	.	0.858193	0.10594	N	0.656454	T	0.18759	0.0450	N	0.08118	0	0.19300	N	0.999975	B;B	0.10296	0.003;0.003	B;B	0.09377	0.002;0.004	T	0.24728	-1.0152	10	0.02654	T	1	-22.2789	7.6771	0.28492	0.0:0.2944:0.0:0.7056	.	103;134	A8MXR0;Q9Y608	.;LRRF2_HUMAN	L	134;134;103	ENSP00000392217:M134L;ENSP00000338727:M134L;ENSP00000379705:M103L	ENSP00000338727:M134L	M	-	1	0	LRRFIP2	37129448	0.011000	0.17503	0.876000	0.34364	0.977000	0.68977	0.214000	0.17541	1.024000	0.39682	0.482000	0.46254	ATG	LRRFIP2	-	NULL	ENSG00000093167		0.333	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	HGNC	protein_coding	OTTHUMT00000253335.3	-	0.00	46	0	T	NM_006309		37154444	-1	tier1	-	no_errors	ENST00000336686	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.819	A
LTF	4057	genome.wustl.edu	37	3	46480843	46480843	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:46480843C>T	ENST00000231751.4	-	15	2147	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	LTF_ENST00000493056.1_5'UTR|LTF_ENST00000426532.2_Missense_Mutation_p.V574M|LTF_ENST00000417439.1_Missense_Mutation_p.V616M	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	618	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CGAGACACCACGGCATGATTC	0.552																																																	0													147.0	119.0	129.0					3																	46480843		2203	4300	6503	SO:0001583	missense	0				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1852G>A	3.37:g.46480843C>T	ENSP00000231751:p.Val618Met		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.V618M	ENST00000231751.4	37	c.1852	CCDS33747.1	3	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246397	0.59103	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	H	0.95611	3.695	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	T	0.65586	-0.6132	10	0.87932	D	0	-3.0009	16.889	0.86082	0.0:1.0:0.0:0.0	.	616;605;618	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	M	618;574;616;605	ENSP00000231751:V618M;ENSP00000405719:V574M;ENSP00000405546:V616M;ENSP00000397427:V605M	ENSP00000231751:V618M	V	-	1	0	LTF	46455847	1.000000	0.71417	0.937000	0.37676	0.069000	0.16628	6.265000	0.72534	2.778000	0.95560	0.655000	0.94253	GTG	LTF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000012223		0.552	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LTF	HGNC	protein_coding	OTTHUMT00000343951.2	-	0.00	49	0	C	NM_002343		46480843	-1	tier1	-	no_errors	ENST00000231751	ensembl	human	known	74_37	missense	32.08	36	17	SNP	0.998	T
LUZP1	7798	genome.wustl.edu	37	1	23415507	23415507	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:23415507G>T	ENST00000302291.4	-	5	3913	c.3112C>A	c.(3112-3114)Caa>Aaa	p.Q1038K	LUZP1_ENST00000418342.1_Missense_Mutation_p.Q1038K|RP1-184J9.2_ENST00000427154.1_RNA|LUZP1_ENST00000374623.3_Missense_Mutation_p.Q1038K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1038					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGTGCAGTTGCCTGTAGACA	0.562																																																	0													123.0	114.0	117.0					1																	23415507		2203	4300	6503	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.3112C>A	1.37:g.23415507G>T	ENSP00000303758:p.Gln1038Lys		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.Q1038K	ENST00000302291.4	37	c.3112	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	G	4.038	0.004560	0.07866	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291	T;T;T	0.10477	2.87;2.87;2.87	5.53	4.6	0.57074	.	0.387393	0.19134	N	0.121848	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.13407	0.009	T	0.37888	-0.9686	10	0.06494	T	0.89	.	10.8203	0.46601	0.0911:0.0:0.9089:0.0	.	1038	Q86V48	LUZP1_HUMAN	K	1038	ENSP00000393460:Q1038K;ENSP00000363752:Q1038K;ENSP00000303758:Q1038K	ENSP00000303758:Q1038K	Q	-	1	0	LUZP1	23288094	0.052000	0.20516	0.194000	0.23346	0.196000	0.23810	2.779000	0.47734	2.769000	0.95229	0.655000	0.94253	CAA	LUZP1	-	NULL	ENSG00000169641		0.562	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	-	0.00	57	0	G	NM_033631		23415507	-1	tier1	-	no_errors	ENST00000302291	ensembl	human	known	74_37	missense	10.26	34	4	SNP	0.048	T
MALAT1	378938	genome.wustl.edu	37	11	65266463	65266463	+	lincRNA	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:65266463G>A	ENST00000534336.1	+	0	1231				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATCGAATTCCGGTGATGCGAG	0.512																																																	0													142.0	143.0	143.0					11																	65266463		874	1988	2862			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266463G>A				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.512	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	-	0.00	62	0	G	NR_002819		65266463	+1	tier1	-	no_errors	ENST00000534336	ensembl	human	known	74_37	rna	7.22	90	7	SNP	0.000	A
MAOA	4128	genome.wustl.edu	37	X	43587477	43587477	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:43587477C>G	ENST00000338702.3	+	6	684	c.561C>G	c.(559-561)caC>caG	p.H187Q	MAOA_ENST00000542639.1_Missense_Mutation_p.H54Q|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	187					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CTGAGCCTCACGAAGTGTCTG	0.478																																																	0													241.0	188.0	206.0					X																	43587477		2203	4300	6503	SO:0001583	missense	0				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.561C>G	X.37:g.43587477C>G	ENSP00000340684:p.His187Gln		B4DF46|Q16426	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.H187Q	ENST00000338702.3	37	c.561	CCDS14260.1	X	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172643	0.21704	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.92048	-2.96;-2.96	5.58	-5.09	0.02920	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	L	0.53780	1.695	0.58432	D	0.999996	B	0.32365	0.367	B	0.38712	0.28	T	0.77247	-0.2658	10	0.42905	T	0.14	.	14.5217	0.67853	0.0:0.4254:0.0:0.5746	.	187	P21397	AOFA_HUMAN	Q	187;54	ENSP00000340684:H187Q;ENSP00000440846:H54Q	ENSP00000340684:H187Q	H	+	3	2	MAOA	43472421	0.056000	0.20664	0.533000	0.28001	0.132000	0.20833	-0.749000	0.04813	-1.141000	0.02873	-1.131000	0.01979	CAC	MAOA	-	pfam_Amino_oxidase,prints_Flavin_amine_oxidase	ENSG00000189221		0.478	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	HGNC	protein_coding	OTTHUMT00000056300.1	-	0.00	29	0	C	NM_000240		43587477	+1	tier1	-	no_errors	ENST00000338702	ensembl	human	known	74_37	missense	53.70	25	29	SNP	0.827	G
MAP1B	4131	genome.wustl.edu	37	5	71495810	71495810	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:71495810C>G	ENST00000296755.7	+	5	6926	c.6628C>G	c.(6628-6630)Cct>Gct	p.P2210A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2210					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGACCGCAGCCCTTCGCCACG	0.542																																					Melanoma(17;367 822 11631 31730 47712)												0													131.0	120.0	123.0					5																	71495810		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6628C>G	5.37:g.71495810C>G	ENSP00000296755:p.Pro2210Ala		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.P2210A	ENST00000296755.7	37	c.6628	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425585	0.62733	.	.	ENSG00000131711	ENST00000296755	T	0.59638	0.25	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	T	0.79969	0.4538	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.996	T	0.81042	-0.1112	10	0.72032	D	0.01	-16.2992	20.3539	0.98825	0.0:1.0:0.0:0.0	.	2084;2210	A2BDK6;P46821	.;MAP1B_HUMAN	A	2210	ENSP00000296755:P2210A	ENSP00000296755:P2210A	P	+	1	0	MAP1B	71531566	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CCT	MAP1B	-	NULL	ENSG00000131711		0.542	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6		0.00	68	0	C	NM_005909		71495810	+1			no_errors	ENST00000296755	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	G
MAP1S	55201	genome.wustl.edu	37	19	17844002	17844002	+	Splice_Site	SNP	G	G	A	rs200058724	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:17844002G>A	ENST00000324096.4	+	6	2940	c.2789G>A	c.(2788-2790)gGg>gAg	p.G930E	MAP1S_ENST00000544059.2_Splice_Site_p.G904E|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	930	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCGCCCGCAGGGTCAGCCAGC	0.721																																																	0													9.0	9.0	9.0					19																	17844002		1997	3919	5916	SO:0001630	splice_region_variant	0			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2789-1G>A	19.37:g.17844002G>A			B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.G930E	ENST00000324096.4	37	c.2789	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091811	0.55968	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18502	2.21;2.21	4.49	3.41	0.39046	.	0.365789	0.20214	N	0.096833	T	0.28699	0.0711	L	0.48642	1.525	0.53688	D	0.999971	D;D	0.67145	0.982;0.996	P;P	0.62740	0.608;0.906	T	0.00844	-1.1543	9	.	.	.	.	10.121	0.42621	0.0:0.2049:0.7951:0.0	.	904;930	B4DH53;Q66K74	.;MAP1S_HUMAN	E	930;904	ENSP00000325313:G930E;ENSP00000439243:G904E	.	G	+	2	0	MAP1S	17705002	0.923000	0.31300	0.639000	0.29394	0.042000	0.13812	1.221000	0.32503	0.816000	0.34421	0.561000	0.74099	GGG	MAP1S	-	NULL	ENSG00000130479		0.721	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	-	0.00	93	0	G	NM_018174	Missense_Mutation	17844002	+1	tier1	-	no_errors	ENST00000324096	ensembl	human	known	74_37	missense	14.14	85	14	SNP	0.909	A
MAP3K13	9175	genome.wustl.edu	37	3	185198052	185198052	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:185198052A>T	ENST00000265026.3	+	13	2868	c.2534A>T	c.(2533-2535)tAt>tTt	p.Y845F	MAP3K13_ENST00000443863.1_Missense_Mutation_p.Y701F|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.Y638F|MAP3K13_ENST00000424227.1_Missense_Mutation_p.Y845F|MAP3K13_ENST00000535426.1_Missense_Mutation_p.Y701F	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGCCAGTCATATTCAACCTTT	0.438																																																	0													98.0	104.0	102.0					3																	185198052		2203	4300	6503	SO:0001583	missense	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2534A>T	3.37:g.185198052A>T	ENSP00000265026:p.Tyr845Phe			Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y845F	ENST00000265026.3	37	c.2534	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058986	0.55325	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.72	4.56	0.56223	.	0.067531	0.64402	D	0.000009	T	0.18257	0.0438	N	0.24115	0.695	0.80722	D	1	D;D;D	0.63046	0.987;0.987;0.992	P;P;P	0.55011	0.766;0.766;0.715	T	0.04373	-1.0956	10	0.13470	T	0.59	.	11.7914	0.52072	0.9311:0.0:0.0689:0.0	.	701;638;845	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	F	638;845;701;701;845	ENSP00000411483:Y638F;ENSP00000399910:Y845F;ENSP00000409325:Y701F;ENSP00000439257:Y701F;ENSP00000265026:Y845F	ENSP00000265026:Y845F	Y	+	2	0	MAP3K13	186680746	1.000000	0.71417	0.049000	0.19019	0.575000	0.36095	6.246000	0.72405	0.982000	0.38575	-0.274000	0.10170	TAT	MAP3K13	-	pirsf_MAP3K12_MAP3K13	ENSG00000073803		0.438	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1		0.00	62	0	A	NM_004721		185198052	+1			no_errors	ENST00000265026	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
MATK	4145	genome.wustl.edu	37	19	3784834	3784834	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:3784834T>A	ENST00000310132.6	-	3	519	c.121A>T	c.(121-123)Agg>Tgg	p.R41W	MATK_ENST00000585778.1_Missense_Mutation_p.R41W|MATK_ENST00000395045.2_Missense_Mutation_p.R42W|MATK_ENST00000590821.1_5'Flank|MATK_ENST00000395040.2_5'UTR	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	41					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGGCATCCTGGCTGAGACG	0.662																																																	0													26.0	27.0	27.0					19																	3784834		2159	4231	6390	SO:0001583	missense	0			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.121A>T	19.37:g.3784834T>A	ENSP00000308734:p.Arg41Trp		B3KNZ9|Q9NST8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R42W	ENST00000310132.6	37	c.124	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857636	0.51376	.	.	ENSG00000007264	ENST00000395045;ENST00000310132	T;T	0.75367	-0.9;-0.93	4.76	4.76	0.60689	.	0.782138	0.11624	U	0.545478	T	0.65893	0.2735	N	0.24115	0.695	0.27549	N	0.950565	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.46975	0.533;0.533;0.533	T	0.56637	-0.7946	10	0.37606	T	0.19	-23.0606	10.6661	0.45731	0.0:0.0:0.0:1.0	.	41;42;41	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	W	42;41	ENSP00000378485:R42W;ENSP00000308734:R41W	ENSP00000308734:R41W	R	-	1	2	MATK	3735834	0.517000	0.26226	0.994000	0.49952	0.063000	0.16089	0.689000	0.25437	1.779000	0.52309	0.374000	0.22700	AGG	MATK	-	NULL	ENSG00000007264		0.662	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	-	0.00	98	0	T	NM_139355		3784834	-1	tier1	-	no_errors	ENST00000395045	ensembl	human	known	74_37	missense	30.26	52	23	SNP	0.992	A
MARCH2	51257	genome.wustl.edu	37	19	8495623	8495623	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:8495623G>T	ENST00000602117.1	+	4	909	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S	MARCH2_ENST00000215555.2_Missense_Mutation_p.A152S|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.A152S			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	152					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CACACCGCTGGCCGCCATCTC	0.667																																																	0													106.0	88.0	94.0					19																	8495623		2203	4300	6503	SO:0001583	missense	0			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.454G>T	19.37:g.8495623G>T	ENSP00000471536:p.Ala152Ser		A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.A152S	ENST00000602117.1	37	c.454	CCDS12202.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.070692	0.93950	.	.	ENSG00000099785	ENST00000393944;ENST00000215555	T;T	0.20738	2.05;2.05	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	P	0.53689	0.732	T	0.52487	-0.8569	10	0.72032	D	0.01	-15.2812	15.7466	0.77949	0.0:0.0:1.0:0.0	.	152	Q9P0N8	MARH2_HUMAN	S	152	ENSP00000377518:A152S;ENSP00000215555:A152S	ENSP00000215555:A152S	A	+	1	0	MARCH2	8401623	1.000000	0.71417	0.975000	0.42487	0.974000	0.67602	9.592000	0.98245	2.364000	0.80123	0.448000	0.29417	GCC	MARCH2	-	NULL	ENSG00000099785		0.667	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH2	HGNC	protein_coding	OTTHUMT00000460361.2		0.00	64	0	G	NM_016496		8495623	+1			no_errors	ENST00000215555	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
MCCC2	64087	genome.wustl.edu	37	5	70898353	70898353	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:70898353C>T	ENST00000340941.6	+	5	533	c.404C>T	c.(403-405)gCc>gTc	p.A135V	MCCC2_ENST00000323375.8_Missense_Mutation_p.A135V|MCCC2_ENST00000509358.2_Missense_Mutation_p.A135V|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	135	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	ATGATTATTGCCAATGATGCC	0.413																																																	0													93.0	91.0	92.0					5																	70898353		2203	4300	6503	SO:0001583	missense	0			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.404C>T	5.37:g.70898353C>T	ENSP00000343657:p.Ala135Val		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.A135V	ENST00000340941.6	37	c.404	CCDS34184.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.155312	0.94686	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375	D;D;D	0.98835	-5.17;-5.17;-5.17	5.7	5.7	0.88788	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98295	0.9435	M	0.72576	2.205	0.80722	D	1	P;B;P	0.39551	0.678;0.267;0.678	P;B;P	0.44696	0.458;0.344;0.458	D	0.99274	1.0894	10	0.56958	D	0.05	-16.9475	18.6126	0.91291	0.0:1.0:0.0:0.0	.	135;4;135	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	V	135	ENSP00000343657:A135V;ENSP00000420994:A135V;ENSP00000327308:A135V	ENSP00000327308:A135V	A	+	2	0	MCCC2	70934109	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.749000	0.68704	2.683000	0.91414	0.655000	0.94253	GCC	MCCC2	-	pfam_Carboxyl_trans,pfscan_COA_CT_N	ENSG00000131844		0.413	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC2	HGNC	protein_coding	OTTHUMT00000369243.4		0.00	131	0	C			70898353	+1			no_errors	ENST00000340941	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
MCM10	55388	genome.wustl.edu	37	10	13214405	13214405	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:13214405A>T	ENST00000484800.2	+	4	482	c.379A>T	c.(379-381)Aag>Tag	p.K127*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.K127*|MCM10_ENST00000378694.1_Nonsense_Mutation_p.K127*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	127	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGAGCAAATGAAGGCCTTACA	0.403																																																	0													120.0	129.0	126.0					10																	13214405		2203	4300	6503	SO:0001587	stop_gained	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.379A>T	10.37:g.13214405A>T	ENSP00000418268:p.Lys127*		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.K127*	ENST00000484800.2	37	c.379	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	A	35	5.524031	0.96431	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000479669;ENST00000378694	.	.	.	5.72	4.58	0.56647	.	0.150196	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6862	13.0871	0.59146	0.866:0.134:0.0:0.0	.	.	.	.	X	127;127;127;47;127	.	ENSP00000354945:K127X	K	+	1	0	MCM10	13254411	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.880000	0.56145	0.977000	0.38444	0.460000	0.39030	AAG	MCM10	-	NULL	ENSG00000065328		0.403	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1		0.00	49	0	A	NM_182751		13214405	+1			no_errors	ENST00000484800	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T
MCM3	4172	genome.wustl.edu	37	6	52149415	52149415	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:52149415G>T	ENST00000229854.7	-	1	134	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	MCM3_ENST00000419835.2_Silent_p.T11T|MCM3_ENST00000596288.1_Missense_Mutation_p.L65M			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	20					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					AGGAAGTCCAGGTAATCTCTC	0.697																																																	0													36.0	35.0	35.0					6																	52149415		2203	4300	6503	SO:0001583	missense	0			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.58C>A	6.37:g.52149415G>T	ENSP00000229854:p.Leu20Met		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3	p.L65M	ENST00000229854.7	37	c.193		6	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006563	0.54361	.	.	ENSG00000112118	ENST00000229854	T	0.05717	3.4	5.36	2.55	0.30701	Nucleic acid-binding, OB-fold-like (1);	0.071702	0.56097	D	0.000026	T	0.05777	0.0151	M	0.81802	2.56	0.80722	D	1	P	0.41498	0.752	B	0.42163	0.378	T	0.09443	-1.0674	10	0.49607	T	0.09	-10.9905	10.3909	0.44168	0.2177:0.0:0.7823:0.0	.	20	P25205	MCM3_HUMAN	M	20	ENSP00000229854:L20M	ENSP00000229854:L20M	L	-	1	2	MCM3	52257374	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	1.916000	0.39986	0.809000	0.34255	-0.150000	0.13652	CTG	MCM3	-	superfamily_NA-bd_OB-fold	ENSG00000112118		0.697	MCM3-006	KNOWN	basic|appris_principal	protein_coding	MCM3	HGNC	protein_coding	OTTHUMT00000470784.1		0.00	52	0	G			52149415	-1			no_errors	ENST00000596288	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
MCM9	254394	genome.wustl.edu	37	6	119243235	119243235	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:119243235A>T	ENST00000316316.6	-	4	924	c.638T>A	c.(637-639)gTt>gAt	p.V213D	MCM9_ENST00000316068.3_Missense_Mutation_p.V213D	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	213					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AATACTTCCAACAGATAGCCT	0.348																																																	0													147.0	139.0	142.0					6																	119243235		2203	4300	6503	SO:0001583	missense	0			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.638T>A	6.37:g.119243235A>T	ENSP00000314505:p.Val213Asp		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	p.V213D	ENST00000316316.6	37	c.638	CCDS56447.1	6	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871209	0.72065	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.04406	3.63;3.63	5.58	5.58	0.84498	.	.	.	.	.	T	0.05777	0.0151	M	0.64997	1.995	0.80722	D	1	P	0.46706	0.883	P	0.46172	0.506	T	0.25293	-1.0136	9	0.44086	T	0.13	.	16.0334	0.80603	1.0:0.0:0.0:0.0	.	213	Q9NXL9-2	.	D	213	ENSP00000314505:V213D;ENSP00000312870:V213D	ENSP00000312870:V213D	V	-	2	0	MCM9	119284934	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.475000	0.90417	2.243000	0.73865	0.533000	0.62120	GTT	MCM9	-	superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase	ENSG00000111877		0.348	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM9	HGNC	protein_coding	OTTHUMT00000042005.4	-	0.00	80	0	A	NM_153255		119243235	-1	tier1	-	no_errors	ENST00000316316	ensembl	human	known	74_37	missense	39.44	43	28	SNP	1.000	T
MDH1	4190	genome.wustl.edu	37	2	63834065	63834065	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:63834065G>T	ENST00000233114.8	+	9	1384	c.949G>T	c.(949-951)Gca>Tca	p.A317S	MDH1_ENST00000409908.1_Missense_Mutation_p.A152S|MDH1_ENST00000544381.1_Missense_Mutation_p.A228S|MDH1_ENST00000539945.1_Missense_Mutation_p.A335S|MDH1_ENST00000409476.1_Missense_Mutation_p.A193S|MDH1_ENST00000394423.1_Missense_Mutation_p.A317S	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	317					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						GGATCTTACTGCAAAGGAACT	0.343																																																	0													79.0	79.0	79.0					2																	63834065		2203	4300	6503	SO:0001583	missense	0				CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.949G>T	2.37:g.63834065G>T	ENSP00000233114:p.Ala317Ser		B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	p.A335S	ENST00000233114.8	37	c.1003	CCDS1874.1	2	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862948	0.71949	.	.	ENSG00000014641	ENST00000233114;ENST00000409908;ENST00000409476;ENST00000539945;ENST00000544381;ENST00000394423	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.76	5.76	0.90799	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	L	0.49350	1.555	0.80722	D	1	B;B	0.18310	0.012;0.027	B;B	0.31101	0.108;0.124	T	0.59700	-0.7405	10	0.32370	T	0.25	-39.2956	20.3431	0.98773	0.0:0.0:1.0:0.0	.	335;317	F5H098;P40925	.;MDHC_HUMAN	S	317;152;193;335;228;317	ENSP00000233114:A317S;ENSP00000386743:A152S;ENSP00000386719:A193S;ENSP00000438144:A335S;ENSP00000446395:A228S;ENSP00000377945:A317S	ENSP00000233114:A317S	A	+	1	0	MDH1	63687569	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.648000	0.83479	2.880000	0.98712	0.650000	0.86243	GCA	MDH1	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	ENSG00000014641		0.343	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH1	HGNC	protein_coding	OTTHUMT00000251687.1		0.00	82	0	G			63834065	+1			no_errors	ENST00000539945	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90392997	90392997	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:90392997G>A	ENST00000369393.3	-	73	12071	c.11956C>T	c.(11956-11958)Cgg>Tgg	p.R3986W	MDN1_ENST00000428876.1_Missense_Mutation_p.R3986W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3986			R -> L (in dbSNP:rs17293121).		ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGGATGACCGGCAGGGTTCA	0.453																																																	0													71.0	64.0	66.0					6																	90392997		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11956C>T	6.37:g.90392997G>A	ENSP00000358400:p.Arg3986Trp		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R3986W	ENST00000369393.3	37	c.11956	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743690	0.49151	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.44881	0.91;0.91	5.7	4.75	0.60458	.	0.493902	0.21296	N	0.076889	T	0.37237	0.0996	M	0.65975	2.015	0.24986	N	0.991564	D	0.65815	0.995	P	0.47528	0.549	T	0.23404	-1.0189	10	0.62326	D	0.03	.	15.4976	0.75666	0.0:0.0:0.7722:0.2278	.	3986	Q9NU22	MDN1_HUMAN	W	3986	ENSP00000358400:R3986W;ENSP00000413970:R3986W	ENSP00000358400:R3986W	R	-	1	2	MDN1	90449718	0.990000	0.36364	1.000000	0.80357	0.980000	0.70556	1.894000	0.39768	2.701000	0.92244	0.561000	0.74099	CGG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0.00	74	0	G			90392997	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	52.04	47	51	SNP	0.997	A
MED13L	23389	genome.wustl.edu	37	12	116444176	116444176	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:116444176C>T	ENST00000281928.3	-	12	2485	c.2279G>A	c.(2278-2280)gGt>gAt	p.G760D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	760						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CGTGGAATGACCTGGTGTAGT	0.408																																																	0													107.0	103.0	105.0					12																	116444176		2203	4300	6503	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2279G>A	12.37:g.116444176C>T	ENSP00000281928:p.Gly760Asp		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.G760D	ENST00000281928.3	37	c.2279	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821766	0.50633	.	.	ENSG00000123066	ENST00000281928	T	0.74209	-0.82	5.83	5.83	0.93111	.	0.288817	0.41396	D	0.000899	T	0.59715	0.2214	N	0.24115	0.695	0.53005	D	0.999967	P	0.48834	0.916	B	0.38842	0.283	T	0.62840	-0.6769	10	0.39692	T	0.17	-16.7322	13.3368	0.60522	0.0:0.928:0.0:0.072	.	760	Q71F56	MD13L_HUMAN	D	760	ENSP00000281928:G760D	ENSP00000281928:G760D	G	-	2	0	MED13L	114928559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.086000	0.57664	2.771000	0.95319	0.591000	0.81541	GGT	MED13L	-	NULL	ENSG00000123066		0.408	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0.00	73	0	C			116444176	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
RILPL1	353116	genome.wustl.edu	37	12	124021053	124021053	+	5'Flank	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:124021053G>T	ENST00000376874.4	-	0	0				MIR3908_ENST00000579798.1_RNA	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1						epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		ttttttttttggagacagagt	0.408																																																	0																																										SO:0001631	upstream_gene_variant	0			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686		12.37:g.124021053G>T	Exception_encountered		Q66K36|Q8N1M0	RNA	SNP	-	NULL	ENST00000376874.4	37	NULL	CCDS45006.1	12																																																																																			MIR3908	-	-	ENSG00000266655		0.408	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3908	HGNC	protein_coding	OTTHUMT00000400595.1		0.00	46	0	G	NM_178314		124021053	+1			no_errors	ENST00000579798	ensembl	human	known	74_37	rna	13.04	40	6	SNP	0.107	T
MIR515-2	574465	genome.wustl.edu	37	19	54189728	54189729	+	RNA	DNP	GC	GC	AA			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:54189728_54189729GC>AA	ENST00000384883.1	+	0	83				MIR1283-1_ENST00000408494.1_RNA|MIR519C_ENST00000385053.1_RNA	NR_030184.1|NR_030187.1				microRNA 515-2																		GAAGATCTCAGCCTGTGACCCT	0.386																																																	0																																												0					19q13.42	2011-09-12		2008-12-18	ENSG00000207615	ENSG00000207615		"""ncRNAs / Micro RNAs"""	32097	non-coding RNA	RNA, micro				MIRN515-2			Standard	NR_030187		Approved	hsa-mir-515-2				Exception_encountered	19.37:g.54189728_54189729delinsAA				RNA	SNP	-	NULL	ENST00000384883.1	37	NULL		19																																																																																			MIR519C	-	-	ENSG00000207788		0.386	MIR515-2-201	KNOWN	basic	miRNA	MIR519C	HGNC	miRNA		-	0.00	225|229	0	G|C	NR_030187		54189728|54189729	+1	tier1	-	no_errors	ENST00000385053	ensembl	human	known	74_37	rna	32.89|32.21	100|101	49|48	SNP	0.004|0.002	A
MIR720	0	genome.wustl.edu	37	3	164059156	164059156	+	RNA	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:164059156C>A	ENST00000408828.1	+	0	28																											gtgttaatatctcgctggggc	0.567																																																	0													21.0	22.0	22.0					3																	164059156		1559	3558	5117			0																															3.37:g.164059156C>A				RNA	SNP	-	NULL	ENST00000408828.1	37	NULL		3																																																																																			MIR720	-	-	ENSG00000221755		0.567	MIR720-201	KNOWN	basic	miRNA	MIR720	HGNC	miRNA		-	0.00	178	0	C			164059156	+1	tier1	-	no_errors	ENST00000408828	ensembl	human	known	74_37	rna	22.96	104	31	SNP	0.048	A
MRE11A	4361	genome.wustl.edu	37	11	94153333	94153335	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	ATC	ATC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:94153333_94153335delATC	ENST00000323929.3	-	20	2305_2307	c.2083_2085delGAT	c.(2083-2085)gatdel	p.D695del	MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del|MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del|MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	695					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCATAAAAGGATCATCATCATCA	0.325								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																								0																																										SO:0001651	inframe_deletion	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.2083_2085delGAT	11.37:g.94153342_94153344delATC	ENSP00000325863:p.Asp695del		O43475	In_Frame_Del	DEL	pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.D695in_frame_del	ENST00000323929.3	37	c.2085_2083	CCDS8299.1	11																																																																																			MRE11A	-	pirsf_DNA_repair_Mre11	ENSG00000020922		0.325	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3		0.00	28	0	ATC	NM_005591		94153335	-1	tier1		no_errors	ENST00000323929	ensembl	human	known	74_37	in_frame_del	6.90	27	2	DEL	0.990:1.000:1.000	-
MST1R	4486	genome.wustl.edu	37	3	49924846	49924846	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:49924846delC	ENST00000296474.3	-	20	4124	c.4097delG	c.(4096-4098)agcfs	p.S1366fs	MST1R_ENST00000344206.4_Frame_Shift_Del_p.S1317fs	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1366					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATGCGAGGTGCTGGGGCCCAA	0.597																																																	0													131.0	118.0	122.0					3																	49924846		2203	4300	6503	SO:0001589	frameshift_variant	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4097delG	3.37:g.49924846delC	ENSP00000296474:p.Ser1366fs		B5A944|B5A945|B5A946|B5A947	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S1366fs	ENST00000296474.3	37	c.4097	CCDS2807.1	3																																																																																			MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt	ENSG00000164078		0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1		0.00	62	0	C			49924846	-1	tier1		no_errors	ENST00000296474	ensembl	human	known	74_37	frame_shift_del	10.71	75	9	DEL	0.003	-
MST1R	4486	genome.wustl.edu	37	3	49924847	49924848	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:49924847_49924848TG>AA	ENST00000296474.3	-	20	4122_4123	c.4095_4096CA>TT	c.(4093-4098)ccCAgc>ccTTgc	p.S1366C	MST1R_ENST00000344206.4_Missense_Mutation_p.S1317C	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1366					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCGAGGTGCTGGGGCCCAAGT	0.599																																																	0																																										SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4095_4096delinsAA	3.37:g.49924847_49924848delinsAA	ENSP00000296474:p.Ser1366Cys		B5A944|B5A945|B5A946|B5A947	Missense_Mutation|Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S1366C|p.P1365	ENST00000296474.3	37	c.4096|c.4095	CCDS2807.1	3																																																																																			MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt	ENSG00000164078		0.599	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	-	0.00	61|62	0	T|G			49924847|49924848	-1	tier1	-	no_errors	ENST00000296474	ensembl	human	known	74_37	missense|silent	12.94|11.76	74|75	11|10	SNP	0.002|0.012	A
MT-ATP6	4508	genome.wustl.edu	37	M	8635	8635	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrM:8635C>A	ENST00000361899.2	+	1	109	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	37			L -> P. {ECO:0000269|PubMed:12870132}.		ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						CCTCCAAATATCTCATCAACA	0.438																																																	0																																										SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.109C>A	M.37:g.8635C>A	ENSP00000354632:p.Leu37Ile		Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.L37I	ENST00000361899.2	37	c.109		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	ENSG00000198899		0.438	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		-	0.00	73	0	C	YP_003024031		8635	+1	tier1	-	no_errors	ENST00000361899	ensembl	human	known	74_37	missense	10.00	18	2	SNP	NULL	A
MT-CO1	4512	genome.wustl.edu	37	M	6262	6262	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrM:6262C>T	ENST00000361624.2	+	1	359	c.359C>T	c.(358-360)gCc>gTc	p.A120V	MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	120					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TATAGTGGAGGCCGGAGCAGG	0.542																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.359C>T	M.37:g.6262C>T	ENSP00000354499:p.Ala120Val		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.A120V	ENST00000361624.2	37	c.359		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.542	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	91	0	C	YP_003024028		6262	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	14.29	12	2	SNP	NULL	T
MT-CO1	4512	genome.wustl.edu	37	M	6409	6409	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrM:6409T>C	ENST00000361624.2	+	1	506	c.506T>C	c.(505-507)aTc>aCc	p.I169T	MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	169					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CACAACAATTATCAATATAAA	0.488																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.506T>C	M.37:g.6409T>C	ENSP00000354499:p.Ile169Thr		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.I169T	ENST00000361624.2	37	c.506		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	ENSG00000198804		0.488	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	59	0	T	YP_003024028		6409	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	10.53	17	2	SNP	NULL	C
MT-CO1	4512	genome.wustl.edu	37	M	6709	6709	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrM:6709G>A	ENST00000361624.2	+	1	806	c.806G>A	c.(805-807)gGa>gAa	p.G269E	MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	269					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AGAACCATTTGGATACATAGG	0.393																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.806G>A	M.37:g.6709G>A	ENSP00000354499:p.Gly269Glu		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.G269E	ENST00000361624.2	37	c.806		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.393	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	51	0	G	YP_003024028		6709	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	89.47	2	17	SNP	NULL	A
MT-CO1	4512	genome.wustl.edu	37	M	6871	6871	+	Nonstop_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrM:6871G>C	ENST00000361624.2	+	1	968	c.968G>C	c.(967-969)tGa>tCa	p.*323S	MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	323					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AGTATTTAGCTGACTCGCCAC	0.473																																																	0																																										SO:0001578	stop_lost	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.968G>C	M.37:g.6871G>C	Exception_encountered		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.W323S	ENST00000361624.2	37	c.968		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	ENSG00000198804		0.473	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	58	0	G	YP_003024028		6871	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	75.00	3	9	SNP	NULL	C
MT-ATP6	4508	genome.wustl.edu	37	M	9024	9024	+	Silent	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrM:9024A>G	ENST00000361899.2	+	1	498	c.498A>G	c.(496-498)gcA>gcG	p.A166A	MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	166					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						AACATTACTGCAGGCCACCTA	0.453																																																	0																																										SO:0001819	synonymous_variant	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.498A>G	M.37:g.9024A>G			Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Silent	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.A166	ENST00000361899.2	37	c.498		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	ENSG00000198899		0.453	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		-	0.00	53	0	A	YP_003024031		9024	+1	tier1	-	no_errors	ENST00000361899	ensembl	human	known	74_37	silent	18.18	9	2	SNP	NULL	G
MTOR	2475	genome.wustl.edu	37	1	11291476	11291476	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:11291476G>T	ENST00000361445.4	-	17	2606	c.2530C>A	c.(2530-2532)Ctg>Atg	p.L844M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	844					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AACTGTCCCAGGGTCCACAGA	0.453																																																	0													94.0	88.0	90.0					1																	11291476		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2530C>A	1.37:g.11291476G>T	ENSP00000354558:p.Leu844Met		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L844M	ENST00000361445.4	37	c.2530	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522270	0.44866	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.77098	-1.07	5.84	3.98	0.46160	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.68979	0.3060	L	0.53617	1.68	0.80722	D	1	P	0.34977	0.478	B	0.27608	0.081	T	0.68217	-0.5467	10	0.66056	D	0.02	0.2073	9.6685	0.39998	0.2103:0.0:0.7897:0.0	.	844	P42345	MTOR_HUMAN	M	844	ENSP00000354558:L844M	ENSP00000354558:L844M	L	-	1	2	MTOR	11214063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.200000	0.51051	0.824000	0.34613	0.655000	0.94253	CTG	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.453	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0.00	67	0	G	NM_004958		11291476	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
MUC5B	727897	genome.wustl.edu	37	11	1278475	1278475	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:1278475G>A	ENST00000529681.1	+	40	16301	c.16243G>A	c.(16243-16245)Gtg>Atg	p.V5415M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V5418M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5415	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCAGCCTGCGTGGGACCCGA	0.632																																																	0													98.0	107.0	104.0					11																	1278475		2027	4175	6202	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16243G>A	11.37:g.1278475G>A	ENSP00000436812:p.Val5415Met		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V5418M	ENST00000529681.1	37	c.16252	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149656	0.21288	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.57752	0.38;0.38	4.91	3.98	0.46160	.	.	.	.	.	T	0.70552	0.3237	M	0.78456	2.415	0.21064	N	0.999792	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.962	T	0.60434	-0.7264	9	0.87932	D	0	.	11.801	0.52126	0.092:0.0:0.908:0.0	.	5752;5418	A7Y9J9;E9PBJ0	.;.	M	5415;5418;5359;314;5127	ENSP00000436812:V5415M;ENSP00000415793:V5418M	ENSP00000343037:V5359M	V	+	1	0	MUC5B	1235051	0.022000	0.18835	1.000000	0.80357	0.342000	0.28953	0.348000	0.20031	2.444000	0.82710	0.549000	0.68633	GTG	MUC5B	-	smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000117983		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	52	0	G	XM_001126093		1278475	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	A
MVB12A	93343	genome.wustl.edu	37	19	17534606	17534606	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:17534606C>T	ENST00000317040.7	+	6	1693	c.638C>T	c.(637-639)tCa>tTa	p.S213L	MVB12A_ENST00000392702.2_Missense_Mutation_p.S173L|MVB12A_ENST00000529939.1_Missense_Mutation_p.S213L|MVB12A_ENST00000528515.1_Nonsense_Mutation_p.Q171*|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000543795.1_Missense_Mutation_p.S213L			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	213	Interaction with TSG101, VPS37B and VPS28.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										TATGGCATCTCAGGTGAGCAC	0.587																																																	0													36.0	33.0	34.0					19																	17534606		2203	4300	6503	SO:0001583	missense	0			BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.638C>T	19.37:g.17534606C>T	ENSP00000324810:p.Ser213Leu		Q96I18	Nonsense_Mutation	SNP	pfam_FAM125	p.Q171*	ENST00000317040.7	37	c.511	CCDS12359.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.6|21.6	4.179767|4.179767	0.78564|0.78564	.|.	.|.	ENSG00000141971|ENSG00000141971	ENST00000528515|ENST00000528911;ENST00000528604;ENST00000317040;ENST00000392702;ENST00000529939;ENST00000543795	.|T;T;T;T;T;T	.|0.54071	.|0.59;0.59;0.59;0.59;0.59;0.59	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.192976	.|0.43919	.|D	.|0.000502	.|T	.|0.70675	.|0.3251	M|M	0.70275|0.70275	2.135|2.135	0.43798|0.43798	D|D	0.996344|0.996344	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	.|T	.|0.74293	.|-0.3712	.|10	0.35671|0.87932	T|D	0.21|0	-0.542|-0.542	13.8911|13.8911	0.63740|0.63740	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|213	.|Q96EY5	.|F125A_HUMAN	X|L	171|121;74;213;173;213;213	.|ENSP00000433280:S121L;ENSP00000435052:S74L;ENSP00000324810:S213L;ENSP00000376466:S173L;ENSP00000432526:S213L;ENSP00000444653:S213L	ENSP00000433677:Q171X|ENSP00000324810:S213L	Q|S	+|+	1|2	0|0	FAM125A|FAM125A	17395606|17395606	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	4.453000|4.453000	0.60061|0.60061	2.342000|2.342000	0.79632|0.79632	0.456000|0.456000	0.33151|0.33151	CAG|TCA	MVB12A	-	NULL	ENSG00000141971		0.587	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVB12A	HGNC	protein_coding	OTTHUMT00000388723.2	-	0.00	42	0	C	NM_138401		17534606	+1	tier1	-	no_errors	ENST00000528515	ensembl	human	putative	74_37	nonsense	37.04	17	10	SNP	1.000	T
MYF6	4618	genome.wustl.edu	37	12	81101966	81101966	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:81101966G>A	ENST00000228641.3	+	1	690	c.468G>A	c.(466-468)aaG>aaA	p.K156K		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	156					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGCAGGAGAAGATGCAGGAGC	0.577																																																	0													35.0	40.0	38.0					12																	81101966		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.468G>A	12.37:g.81101966G>A			B2R898|Q53X80|Q6FHI9	Silent	SNP	pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.K156	ENST00000228641.3	37	c.468	CCDS9019.1	12																																																																																			MYF6	-	superfamily_bHLH_dom	ENSG00000111046		0.577	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	-	0.00	59	0	G	NM_002469		81101966	+1	tier1	-	no_errors	ENST00000228641	ensembl	human	known	74_37	silent	42.19	37	27	SNP	0.990	A
MYPOP	339344	genome.wustl.edu	37	19	46393982	46393982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:46393982delG	ENST00000322217.5	-	3	1185	c.1099delC	c.(1099-1101)cggfs	p.R367fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	367	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GGGGGGGGCCGGGGTGCCCCC	0.687																																																	0																																										SO:0001589	frameshift_variant	0			BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1099delC	19.37:g.46393982delG	ENSP00000325402:p.Arg367fs			Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R367fs	ENST00000322217.5	37	c.1099	CCDS33055.1	19																																																																																			MYPOP	-	NULL	ENSG00000176182		0.687	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYPOP	HGNC	protein_coding	OTTHUMT00000461684.1		0.00	11	0	G	NM_001012643		46393982	-1	tier1		no_errors	ENST00000322217	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	0.008	-
NCEH1	57552	genome.wustl.edu	37	3	172365675	172365675	+	Splice_Site	DEL	C	C	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:172365675delC	ENST00000475381.1	-	2	601		c.e2+1		NCEH1_ENST00000538775.1_Frame_Shift_Del_p.S155fs|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Splice_Site			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1						lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CCAGGACGCACTTGCACTTGC	0.537																																																	0													56.0	50.0	52.0					3																	172365675		2203	4300	6503	SO:0001630	splice_region_variant	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.367+1G>-	3.37:g.172365675delC			B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Frame_Shift_Del	DEL	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.S155fs	ENST00000475381.1	37	c.464		3																																																																																			NCEH1	-	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	ENSG00000144959		0.537	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3		0.00	68	0	C	NM_020792	Intron	172365675	-1	tier1		no_errors	ENST00000538775	ensembl	human	known	74_37	frame_shift_del	60.94	25	39	DEL	1.000	-
NCOA7	135112	genome.wustl.edu	37	6	126242133	126242133	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:126242133C>T	ENST00000368357.3	+	13	2641	c.2289C>T	c.(2287-2289)agC>agT	p.S763S	NCOA7_ENST00000229634.9_Silent_p.S648S|NCOA7_ENST00000392477.2_Silent_p.S763S	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	763					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GCACATGCAGCTACTATGAAG	0.512																																																	0													82.0	74.0	77.0					6																	126242133		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2289C>T	6.37:g.126242133C>T			B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc	p.S763	ENST00000368357.3	37	c.2289	CCDS5132.1	6																																																																																			NCOA7	-	NULL	ENSG00000111912		0.512	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4		0.00	21	0	C	XM_059748		126242133	+1			no_errors	ENST00000368357	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.985	T
NECAB3	63941	genome.wustl.edu	37	20	32245619	32245619	+	3'UTR	SNP	C	C	T	rs368221322		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:32245619C>T	ENST00000246190.6	-	0	1262				NECAB3_ENST00000375238.4_3'UTR|RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3						protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GGGCCCTCGGCGTGTGCAGGT	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14773	0.0		0.0	False		,,,				2504	0.001																0								C	,	0,3358		0,0,1679	23.0	28.0	27.0		,	0.2	0.0	20		27	1,7411		0,1,3705	no	utr-3,utr-3	NECAB3	NM_031231.3,NM_031232.3	,	0,1,5384	TT,TC,CC		0.0135,0.0,0.0093	,	,	32245619	1,10769	1679	3706	5385	SO:0001624	3_prime_UTR_variant	0			AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.*16G>A	20.37:g.32245619C>T			A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	RNA	SNP	-	NULL	ENST00000246190.6	37	NULL	CCDS42866.1	20																																																																																			NECAB3	-	-	ENSG00000125967		0.662	NECAB3-010	KNOWN	basic|CCDS	protein_coding	NECAB3	HGNC	protein_coding	OTTHUMT00000078724.2	-	0.00	190	0	C			32245619	-1	tier1	-	no_errors	ENST00000477778	ensembl	human	known	74_37	rna	10.81	164	20	SNP	0.001	T
NEK11	79858	genome.wustl.edu	37	3	131068486	131068486	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:131068486G>T	ENST00000510769.1	+	14	1742	c.1489G>T	c.(1489-1491)Gca>Tca	p.A497S	NEK11_ENST00000412440.2_Missense_Mutation_p.A418S|NEK11_ENST00000508196.1_Missense_Mutation_p.A602S|NEK11_ENST00000383366.4_Missense_Mutation_p.A602S|RP11-933H2.4_ENST00000502521.1_RNA|RP11-933H2.4_ENST00000513905.1_RNA|NEK11_ENST00000429253.2_Missense_Mutation_p.A602S|NEK11_ENST00000510688.1_Missense_Mutation_p.K569N					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGCTAGCGAAGCAGAGATCCG	0.463																																																	0													102.0	103.0	103.0					3																	131068486		2203	4300	6503	SO:0001583	missense	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1489G>T	3.37:g.131068486G>T	ENSP00000421549:p.Ala497Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A602S	ENST00000510769.1	37	c.1804		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.41|11.41	1.631033|1.631033	0.28978|0.28978	.|.	.|.	ENSG00000114670|ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000383366;ENST00000412440;ENST00000508196|ENST00000510688	T;T;T;T;T|T	0.71461|0.70986	-0.52;-0.32;-0.32;-0.57;-0.32|-0.53	5.65|5.65	3.45|3.45	0.39498|0.39498	.|.	0.640917|.	0.13015|.	N|.	0.420577|.	T|T	0.68016|0.68016	0.2955|0.2955	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|P	0.29988|0.42692	0.264;0.172;0.172|0.787	B;B;B|P	0.28011|0.44359	0.085;0.039;0.039|0.447	T|T	0.58092|0.58092	-0.7697|-0.7697	9|8	0.10111|0.62326	T|D	0.7|0.03	.|.	10.0225|10.0225	0.42053|0.42053	0.1954:0.0:0.8046:0.0|0.1954:0.0:0.8046:0.0	.|.	497;418;602|569	E9PHI8;B4DDN2;Q8NG66|Q8NG66-4	.;.;NEK11_HUMAN|.	S|N	497;602;602;418;602|569	ENSP00000421549:A497S;ENSP00000397180:A602S;ENSP00000372857:A602S;ENSP00000411888:A418S;ENSP00000421851:A602S|ENSP00000423458:K569N	ENSP00000372857:A602S|ENSP00000423458:K569N	A|K	+|+	1|3	0|2	NEK11|NEK11	132551176|132551176	0.079000|0.079000	0.21365|0.21365	0.020000|0.020000	0.16555|0.16555	0.446000|0.446000	0.32137|0.32137	2.534000|2.534000	0.45676|0.45676	0.492000|0.492000	0.27815|0.27815	0.561000|0.561000	0.74099|0.74099	GCA|AAG	NEK11	-	NULL	ENSG00000114670		0.463	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1	-	0.00	55	0	G	NM_024800		131068486	+1	tier1	-	no_errors	ENST00000383366	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.346	T
NEK8	284086	genome.wustl.edu	37	17	27065181	27065181	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27065181C>T	ENST00000268766.6	+	8	1174	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	380					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGCCCCAGTTCATCTCGCGTT	0.662																																					NSCLC(6;19 293 14866 25253 49845)												0													87.0	70.0	75.0					17																	27065181		2203	4300	6503	SO:0001819	synonymous_variant	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1140C>T	17.37:g.27065181C>T			A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H434Y	ENST00000268766.6	37	c.1300	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133829	0.21123	.	.	ENSG00000160602	ENST00000543014	T	0.70164	-0.46	5.69	1.44	0.22558	.	.	.	.	.	T	0.71298	0.3323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70389	-0.4885	6	0.62326	D	0.03	.	9.4494	0.38717	0.0:0.6088:0.0:0.3912	.	.	.	.	Y	434	ENSP00000465859:H434Y	ENSP00000446066:H434Y	H	+	1	0	NEK8	24089308	0.407000	0.25352	0.838000	0.33150	0.905000	0.53344	0.706000	0.25690	0.341000	0.23771	0.655000	0.94253	CAT	NEK8	-	NULL	ENSG00000160602		0.662	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0.00	27	0	C			27065181	+1	tier1	-	no_errors	ENST00000543014	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.848	T
NEK8	284086	genome.wustl.edu	37	17	27065702	27065702	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27065702C>G	ENST00000268766.6	+	9	1270	c.1236C>G	c.(1234-1236)atC>atG	p.I412M	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	412					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGGCATCATCATGACATTCG	0.567																																					NSCLC(6;19 293 14866 25253 49845)												0													63.0	56.0	58.0					17																	27065702		2203	4300	6503	SO:0001583	missense	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1236C>G	17.37:g.27065702C>G	ENSP00000268766:p.Ile412Met		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I412M	ENST00000268766.6	37	c.1236	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006653	0.35415	.	.	ENSG00000160602	ENST00000268766	T	0.81247	-1.47	5.97	2.95	0.34219	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	L	0.41356	1.27	0.53005	D	0.999968	B	0.31256	0.316	B	0.28553	0.091	T	0.66606	-0.5881	10	0.87932	D	0	.	8.7976	0.34890	0.0:0.7164:0.0:0.2836	.	412	Q86SG6	NEK8_HUMAN	M	412	ENSP00000268766:I412M	ENSP00000268766:I412M	I	+	3	3	NEK8	24089829	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	1.487000	0.35540	0.442000	0.26555	-0.742000	0.03525	ATC	NEK8	-	superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000160602		0.567	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0.00	88	0	C			27065702	+1	tier1	-	no_errors	ENST00000268766	ensembl	human	known	74_37	missense	22.45	37	11	SNP	1.000	G
NEK8	284086	genome.wustl.edu	37	17	27065186	27065186	+	Nonsense_Mutation	SNP	C	C	A	rs146989750	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27065186C>A	ENST00000268766.6	+	8	1179	c.1145C>A	c.(1144-1146)tCg>tAg	p.S382*	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	382					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAGTTCATCTCGCGTTTCCTG	0.657																																					NSCLC(6;19 293 14866 25253 49845)												0													87.0	70.0	76.0					17																	27065186		2203	4300	6503	SO:0001587	stop_gained	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1145C>A	17.37:g.27065186C>A	ENSP00000268766:p.Ser382*		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S382*	ENST00000268766.6	37	c.1145	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.398870	0.97533	.	.	ENSG00000160602	ENST00000268766	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	18.8036	0.92028	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000268766:S382X	S	+	2	0	NEK8	24089313	1.000000	0.71417	0.981000	0.43875	0.958000	0.62258	7.283000	0.78640	2.699000	0.92147	0.655000	0.94253	TCG	NEK8	-	superfamily_RCC1/BLIP-II	ENSG00000160602		0.657	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2		0.00	27	0	C			27065186	+1			no_errors	ENST00000268766	ensembl	human	known	74_37	nonsense	14.29	24	4	SNP	1.000	A
NEK8	284086	genome.wustl.edu	37	17	27065759	27065759	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27065759C>T	ENST00000268766.6	+	9	1327	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	431					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TCACTGACATCAGCCAGGTGG	0.597																																					NSCLC(6;19 293 14866 25253 49845)												0													57.0	51.0	53.0					17																	27065759		2203	4300	6503	SO:0001819	synonymous_variant	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1293C>T	17.37:g.27065759C>T			A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I431	ENST00000268766.6	37	c.1293	CCDS32597.1	17																																																																																			NEK8	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000160602		0.597	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0.00	94	0	C			27065759	+1	tier1	-	no_errors	ENST00000268766	ensembl	human	known	74_37	silent	17.14	58	12	SNP	0.993	T
NEO1	4756	genome.wustl.edu	37	15	73590919	73590919	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:73590919G>A	ENST00000339362.5	+	28	4579	c.4132G>A	c.(4132-4134)Gca>Aca	p.A1378T	NEO1_ENST00000261908.6_Missense_Mutation_p.A1378T|NEO1_ENST00000558964.1_Missense_Mutation_p.A1367T|NEO1_ENST00000560262.1_Missense_Mutation_p.A1325T			Q92859	NEO1_HUMAN	neogenin 1	1378					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTATGATCCTGCATTGCCAAG	0.592																																																	0													86.0	74.0	78.0					15																	73590919		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.4132G>A	15.37:g.73590919G>A	ENSP00000341198:p.Ala1378Thr		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1378T	ENST00000339362.5	37	c.4132	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107475	0.37145	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T	0.43294	0.95	5.22	4.31	0.51392	Neogenin, C-terminal (1);	0.156689	0.56097	N	0.000022	T	0.21267	0.0512	N	0.14661	0.345	0.49213	D	0.999768	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.14023	0.01;0.005;0.005;0.008	T	0.06716	-1.0811	10	0.13108	T	0.6	-7.7548	6.2228	0.20691	0.1576:0.0:0.6916:0.1508	.	1325;1367;1089;1378	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	T	1325;1089;1378	ENSP00000261908:A1378T	ENSP00000261908:A1378T	A	+	1	0	NEO1	71377972	1.000000	0.71417	0.970000	0.41538	0.985000	0.73830	3.584000	0.53936	1.215000	0.43411	0.655000	0.94253	GCA	NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.592	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2		0.00	66	0	G	NM_002499		73590919	+1			no_errors	ENST00000261908	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.937	A
NES	10763	genome.wustl.edu	37	1	156646855	156646855	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:156646855C>T	ENST00000368223.3	-	1	334	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	68	Coil 1B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCGTTGGTCAACGAGGGCC	0.741																																																	0													5.0	6.0	5.0					1																	156646855		1884	3837	5721	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.202G>A	1.37:g.156646855C>T	ENSP00000357206:p.Asp68Asn		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.D68N	ENST00000368223.3	37	c.202	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937340	0.73557	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.89810	-2.57	4.2	4.2	0.49525	Filament (1);	.	.	.	.	D	0.91136	0.7209	M	0.72353	2.195	0.53688	D	0.999972	D	0.58620	0.983	P	0.62649	0.905	D	0.92002	0.5611	9	0.72032	D	0.01	.	12.0475	0.53487	0.0:0.8242:0.1757:0.0	.	68	P48681	NEST_HUMAN	N	68	ENSP00000357206:D68N	ENSP00000255024:D68N	D	-	1	0	NES	154913479	1.000000	0.71417	0.631000	0.29282	0.316000	0.28119	3.714000	0.54889	2.129000	0.65627	0.462000	0.41574	GAC	NES	-	pfam_IF	ENSG00000132688		0.741	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0.00	16	0	C	NM_006617		156646855	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	T
NLRP13	126204	genome.wustl.edu	37	19	56410155	56410155	+	Missense_Mutation	SNP	G	G	A	rs565649099		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:56410155G>A	ENST00000342929.3	-	10	2937	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C	NLRP13_ENST00000588751.1_Missense_Mutation_p.R980C	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	980							ATP binding (GO:0005524)	p.R980C(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGCAATGCACGATGTGGTTTC	0.483																																																	1	Substitution - Missense(1)	endometrium(1)											180.0	144.0	156.0					19																	56410155		2203	4300	6503	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2938C>T	19.37:g.56410155G>A	ENSP00000343891:p.Arg980Cys		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R980C	ENST00000342929.3	37	c.2938	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.309014	0.01342	.	.	ENSG00000173572	ENST00000342929	T	0.52526	0.66	2.8	0.541	0.17168	.	.	.	.	.	T	0.07458	0.0188	N	0.00031	-2.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	9	0.02654	T	1	.	4.5712	0.12210	0.6235:0.0:0.3765:0.0	.	980	Q86W25	NAL13_HUMAN	C	980	ENSP00000343891:R980C	ENSP00000343891:R980C	R	-	1	0	NLRP13	61101967	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.035000	0.30216	0.058000	0.16222	-0.482000	0.04802	CGT	NLRP13	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000173572		0.483	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	-	0.00	33	0	G	NM_176810		56410155	-1	tier1	-	no_errors	ENST00000342929	ensembl	human	known	74_37	missense	55.56	28	35	SNP	0.001	A
NLRP3	114548	genome.wustl.edu	37	1	247588786	247588786	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:247588786C>A	ENST00000336119.3	+	3	2787	c.2041C>A	c.(2041-2043)Ctg>Atg	p.L681M	NLRP3_ENST00000391828.3_Missense_Mutation_p.L681M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L681M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L681M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L681M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.L681M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	681					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTCACTGTCCCTGGGGTTTCT	0.507																																																	0													93.0	82.0	86.0					1																	247588786		2203	4300	6503	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2041C>A	1.37:g.247588786C>A	ENSP00000337383:p.Leu681Met		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L681M	ENST00000336119.3	37	c.2041	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989152	0.35131	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;T;D;T	0.92805	-3.11;-3.11;-3.11;-0.25;-3.11;-0.25	3.96	2.09	0.27110	.	0.000000	0.38326	N	0.001738	D	0.95306	0.8477	M	0.89287	3.02	0.26693	N	0.97131	D;D;D;P;D	0.89917	0.998;1.0;1.0;0.907;0.999	D;D;D;P;D	0.85130	0.939;0.992;0.997;0.814;0.95	D	0.88123	0.2833	10	0.48119	T	0.1	.	6.3591	0.21419	0.0:0.7767:0.0:0.2233	.	681;681;681;681;681	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	681	ENSP00000375704:L681M;ENSP00000355453:L681M;ENSP00000337383:L681M;ENSP00000294752:L681M;ENSP00000355452:L681M;ENSP00000375703:L681M	ENSP00000337383:L681M	L	+	1	2	NLRP3	245655409	0.378000	0.25114	0.989000	0.46669	0.489000	0.33432	0.678000	0.25277	0.641000	0.30601	0.655000	0.94253	CTG	NLRP3	-	NULL	ENSG00000162711		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	-	0.00	118	0	C	NM_004895		247588786	+1	tier1	-	no_errors	ENST00000336119	ensembl	human	known	74_37	missense	50.54	46	47	SNP	0.998	A
NLRP9	338321	genome.wustl.edu	37	19	56244334	56244334	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:56244334C>A	ENST00000332836.2	-	2	890	c.863G>T	c.(862-864)cGg>cTg	p.R288L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	288	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R288Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTTGGATGCCGCAACATAAA	0.383																																																	1	Substitution - Missense(1)	lung(1)											57.0	57.0	57.0					19																	56244334		2203	4300	6503	SO:0001583	missense	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.863G>T	19.37:g.56244334C>A	ENSP00000331857:p.Arg288Leu		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R288L	ENST00000332836.2	37	c.863	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	6.398	0.441535	0.12164	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.75477	-0.94	2.46	-4.92	0.03075	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.49541	0.1563	N	0.11560	0.145	0.09310	N	1	B	0.11235	0.004	B	0.20577	0.03	T	0.28364	-1.0046	9	0.32370	T	0.25	.	6.7229	0.23340	0.1412:0.5202:0.0:0.3386	.	288	Q7RTR0	NALP9_HUMAN	L	288	ENSP00000331857:R288L	ENSP00000331857:R288L	R	-	2	0	NLRP9	60936146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.464000	0.06688	-1.759000	0.01313	-0.259000	0.10710	CGG	NLRP9	-	pfscan_NACHT_NTPase	ENSG00000185792		0.383	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1		0.00	51	0	C	NM_176820		56244334	-1			no_errors	ENST00000332836	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	A
NLRX1	79671	genome.wustl.edu	37	11	119044614	119044614	+	Missense_Mutation	SNP	G	G	T	rs146004436	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:119044614G>T	ENST00000409109.1	+	5	1243	c.656G>T	c.(655-657)cGc>cTc	p.R219L	NLRX1_ENST00000409265.4_Missense_Mutation_p.R219L|NLRX1_ENST00000409991.1_Missense_Mutation_p.R219L|NLRX1_ENST00000292199.2_Missense_Mutation_p.R219L|NLRX1_ENST00000525863.1_Missense_Mutation_p.R219L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	219	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTGGCCCAGCGCTACACGCCC	0.647																																																	0													65.0	56.0	59.0					11																	119044614		2200	4295	6495	SO:0001583	missense	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.656G>T	11.37:g.119044614G>T	ENSP00000387334:p.Arg219Leu		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R219L	ENST00000409109.1	37	c.656	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448142	0.43429	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.93	3.08	0.35506	NACHT nucleoside triphosphatase (1);	0.537282	0.19401	N	0.115168	T	0.64951	0.2645	N	0.11927	0.2	0.40655	D	0.982071	D;D	0.61697	0.99;0.974	P;P	0.53861	0.736;0.734	T	0.59177	-0.7503	10	0.11485	T	0.65	.	6.5667	0.22515	0.3626:0.0:0.6374:0.0	.	219;219	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	L	219	ENSP00000386851:R219L;ENSP00000292199:R219L;ENSP00000386858:R219L;ENSP00000387334:R219L;ENSP00000433442:R219L	ENSP00000292199:R219L	R	+	2	0	NLRX1	118549824	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	4.498000	0.60373	0.856000	0.35383	-0.224000	0.12420	CGC	NLRX1	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000160703		0.647	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	-	0.00	38	0	G	NM_170722		119044614	+1	tier1	-	no_errors	ENST00000292199	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	T
NR4A2	4929	genome.wustl.edu	37	2	157186128	157186128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:157186128delG	ENST00000339562.4	-	3	933	c.571delC	c.(571-573)cagfs	p.Q191fs	NR4A2_ENST00000429376.1_Frame_Shift_Del_p.Q128fs|NR4A2_ENST00000409108.2_Frame_Shift_Del_p.Q191fs|NR4A2_ENST00000409572.1_Frame_Shift_Del_p.Q191fs|NR4A2_ENST00000539077.1_Frame_Shift_Del_p.Q202fs|NR4A2_ENST00000426264.1_Frame_Shift_Del_p.Q128fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	191	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AAGCGCATCTGGCAACTAGAC	0.652																																																	0													62.0	75.0	71.0					2																	157186128		2203	4300	6503	SO:0001589	frameshift_variant	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.571delC	2.37:g.157186128delG	ENSP00000344479:p.Gln191fs		Q16311|Q53RZ2|Q6NXU0	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.Q202fs	ENST00000339562.4	37	c.604	CCDS2201.1	2																																																																																			NR4A2	-	prints_NURR_rcpt	ENSG00000153234		0.652	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2		0.00	98	0	G			157186128	-1	tier1		no_errors	ENST00000539077	ensembl	human	known	74_37	frame_shift_del	19.77	69	17	DEL	1.000	-
NT5C1A	84618	genome.wustl.edu	37	1	40129067	40129067	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:40129067C>T	ENST00000235628.1	-	4	472	c.473G>A	c.(472-474)aGc>aAc	p.S158N		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	158					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCAGATCGGGCTGTTCCCACC	0.542																																																	0													127.0	112.0	117.0					1																	40129067		2203	4300	6503	SO:0001583	missense	0			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.473G>A	1.37:g.40129067C>T	ENSP00000235628:p.Ser158Asn		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	pfam_5-nucleotidase	p.S158N	ENST00000235628.1	37	c.473	CCDS440.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.092647	0.94149	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	M	0.84082	2.675	0.80722	D	1	P	0.44344	0.833	P	0.49085	0.6	T	0.75830	-0.3179	9	0.40728	T	0.16	-1.4557	19.2534	0.93935	0.0:1.0:0.0:0.0	.	158	Q9BXI3	5NT1A_HUMAN	N	158	.	ENSP00000235628:S158N	S	-	2	0	NT5C1A	39901654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.630000	0.89119	0.655000	0.94253	AGC	NT5C1A	-	pfam_5-nucleotidase	ENSG00000116981		0.542	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C1A	HGNC	protein_coding	OTTHUMT00000025626.1	-	0.00	100	0	C	NM_032526		40129067	-1	tier1	-	no_errors	ENST00000235628	ensembl	human	known	74_37	missense	19.83	93	23	SNP	1.000	T
NUP43	348995	genome.wustl.edu	37	6	150052823	150052823	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:150052823C>T	ENST00000340413.2	-	7	915	c.839G>A	c.(838-840)tGc>tAc	p.C280Y	NUP43_ENST00000367404.4_Missense_Mutation_p.C184Y|NUP43_ENST00000460354.2_Missense_Mutation_p.C280Y|NUP43_ENST00000367403.3_3'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	280					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ATCTTCAGAGCAGGTAAAAAG	0.423																																																	0													122.0	111.0	115.0					6																	150052823		2203	4300	6503	SO:0001583	missense	0			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.839G>A	6.37:g.150052823C>T	ENSP00000342262:p.Cys280Tyr		B4E2F0|Q9H8S0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C280Y	ENST00000340413.2	37	c.839	CCDS5218.1	6	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955188	0.92726	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367404	T;T;T	0.61274	0.12;0.12;0.12	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81077	-0.1096	10	0.87932	D	0	-17.8277	19.9405	0.97159	0.0:1.0:0.0:0.0	.	184;280	B4E2F0;Q8NFH3	.;NUP43_HUMAN	Y	280;280;184	ENSP00000342262:C280Y;ENSP00000432401:C280Y;ENSP00000356374:C184Y	ENSP00000342262:C280Y	C	-	2	0	NUP43	150094516	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.380000	0.79704	2.708000	0.92522	0.655000	0.94253	TGC	NUP43	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000120253		0.423	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP43	HGNC	protein_coding	OTTHUMT00000396947.1	-	0.00	102	0	C	NM_198887		150052823	-1	tier1	-	no_errors	ENST00000340413	ensembl	human	known	74_37	missense	15.89	90	17	SNP	1.000	T
OMA1	115209	genome.wustl.edu	37	1	59002262	59002262	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:59002262G>C	ENST00000371226.3	-	3	765	c.652C>G	c.(652-654)Cca>Gca	p.P218A	OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Missense_Mutation_p.P218A|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	218					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CCTGTGATTGGACTTACTTCC	0.348																																																	0													77.0	78.0	77.0					1																	59002262		2203	4300	6503	SO:0001583	missense	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.652C>G	1.37:g.59002262G>C	ENSP00000360270:p.Pro218Ala		D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	pfam_Peptidase_M48	p.P218A	ENST00000371226.3	37	c.652	CCDS608.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.2|24.2	4.510119|4.510119	0.85282|0.85282	.|.	.|.	ENSG00000162600|ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139|ENST00000421528	T;T;T;D;D|T	0.81996|0.23552	0.81;0.82;-0.26;-1.56;-1.51|1.9	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47377|0.47377	0.1442|0.1442	M|M	0.63843|0.63843	1.955|1.955	0.53688|0.53688	D|D	0.999979|0.999979	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.77557|.	0.986;0.99|.	T|T	0.31110|0.31110	-0.9955|-0.9955	10|7	0.56958|0.59425	D|D	0.05|0.04	-15.2931|-15.2931	19.5951|19.5951	0.95533|0.95533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	218;218|.	Q96E52;Q96E52-2|.	OMA1_HUMAN;.|.	A|C	218|59	ENSP00000351417:P218A;ENSP00000360270:P218A;ENSP00000395053:P218A;ENSP00000409589:P218A;ENSP00000416495:P218A|ENSP00000391941:S59C	ENSP00000351417:P218A|ENSP00000391941:S59C	P|S	-|-	1|2	0|0	OMA1|OMA1	58774850|58774850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.685000|7.685000	0.84117|0.84117	2.865000|2.865000	0.98341|0.98341	0.552000|0.552000	0.68991|0.68991	CCA|TCC	OMA1	-	NULL	ENSG00000162600		0.348	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	-	0.00	88	0	G	NM_145243		59002262	-1	tier1	-	no_errors	ENST00000371226	ensembl	human	known	74_37	missense	17.44	69	15	SNP	1.000	C
OLFML2B	25903	genome.wustl.edu	37	1	161967645	161967645	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:161967645C>T	ENST00000294794.3	-	6	1867	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	OLFML2B_ENST00000367940.2_Missense_Mutation_p.E483K	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	482					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCTTCTTCTTCGGGGCTCAGC	0.552																																																	0													156.0	157.0	157.0					1																	161967645		2203	4300	6503	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1444G>A	1.37:g.161967645C>T	ENSP00000294794:p.Glu482Lys		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.E482K	ENST00000294794.3	37	c.1444	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908656	0.52439	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.87256	-2.23;-2.23	4.52	4.52	0.55395	.	.	.	.	.	T	0.69305	0.3096	L	0.32530	0.975	0.32639	N	0.5209440000000001	P;P	0.43750	0.816;0.816	B;B	0.32677	0.113;0.15	T	0.72653	-0.4228	8	0.35671	T	0.21	.	14.7911	0.69844	0.0:1.0:0.0:0.0	.	483;482	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	K	482;483	ENSP00000294794:E482K;ENSP00000356917:E483K	ENSP00000294794:E482K	E	-	1	0	OLFML2B	160234269	0.963000	0.33076	0.600000	0.28864	0.904000	0.53231	4.325000	0.59234	2.348000	0.79779	0.462000	0.41574	GAA	OLFML2B	-	NULL	ENSG00000162745		0.552	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	-	0.00	42	0	C	NM_015441		161967645	-1	tier1	-	no_errors	ENST00000294794	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.645	T
OR10P1	121130	genome.wustl.edu	37	12	56030744	56030744	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:56030744G>A	ENST00000309675.2	+	1	101	c.69G>A	c.(67-69)ctG>ctA	p.L23L	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCAAGGCCCTGCAGGGCCCCC	0.582																																																	0													105.0	99.0	101.0					12																	56030744		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.69G>A	12.37:g.56030744G>A			B9EGY4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L23	ENST00000309675.2	37	c.69	CCDS31828.1	12																																																																																			OR10P1	-	NULL	ENSG00000175398		0.582	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10P1	HGNC	protein_coding	OTTHUMT00000406680.1	-	0.00	63	0	G			56030744	+1	tier1	-	no_errors	ENST00000309675	ensembl	human	known	74_37	silent	5.19	72	4	SNP	0.000	A
OR4K1	79544	genome.wustl.edu	37	14	20404162	20404162	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:20404162A>G	ENST00000285600.4	+	1	396	c.337A>G	c.(337-339)Atg>Gtg	p.M113V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	113						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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GAGTGAGATGATGTTGCTTGT	0.413																																																	0													142.0	138.0	139.0					14																	20404162		2203	4300	6503	SO:0001583	missense	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.337A>G	14.37:g.20404162A>G	ENSP00000285600:p.Met113Val		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M113V	ENST00000285600.4	37	c.337	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.563082	0.00903	.	.	ENSG00000155249	ENST00000285600	T	0.02863	4.13	4.94	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.168912	0.42294	D	0.000723	T	0.00496	0.0016	N	0.00071	-2.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43621	-0.9380	10	0.02654	T	1	.	1.8552	0.03177	0.5724:0.1719:0.0904:0.1653	.	113	Q8NGD4	OR4K1_HUMAN	V	113	ENSP00000285600:M113V	ENSP00000285600:M113V	M	+	1	0	OR4K1	19474002	0.000000	0.05858	0.997000	0.53966	0.995000	0.86356	-0.353000	0.07691	0.354000	0.24105	0.533000	0.62120	ATG	OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000155249		0.413	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0.00	42	0	A			20404162	+1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	missense	70.83	7	17	SNP	0.061	G
OR52A4	390053	genome.wustl.edu	37	11	5142749	5142749	+	RNA	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:5142749C>G	ENST00000498233.1	-	0	649							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACCGGGGATCCCAATAAATG	0.428																																																	0													121.0	121.0	121.0					11																	5142749		2201	4298	6499			0					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142749C>G				RNA	SNP	-	NULL	ENST00000498233.1	37	NULL		11																																																																																			OR52A4	-	-	ENSG00000205494		0.428	OR52A4-002	KNOWN	basic	processed_transcript	OR52A4	HGNC	pseudogene	OTTHUMT00000268565.1	-	0.00	75	0	C	NG_029079		5142749	-1	tier1	-	no_errors	ENST00000481634	ensembl	human	known	74_37	rna	20.00	36	9	SNP	0.976	G
OR6P1	128366	genome.wustl.edu	37	1	158533368	158533368	+	Silent	SNP	G	G	C	rs527393568		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:158533368G>C	ENST00000334632.1	-	1	26	c.27C>G	c.(25-27)gtC>gtG	p.V9V		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	9						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)|endometrium(4)|lung(1)	6						CAAACTCCTCGACATGGCCTC	0.453																																																	0													50.0	59.0	56.0					1																	158533368		692	1591	2283	SO:0001819	synonymous_variant	0			BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.27C>G	1.37:g.158533368G>C			Q6IFR9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V9	ENST00000334632.1	37	c.27	CCDS53391.1	1																																																																																			OR6P1	-	NULL	ENSG00000186440		0.453	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6P1	HGNC	protein_coding	OTTHUMT00000051848.1		0.00	57	0	G			158533368	-1			no_errors	ENST00000334632	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.000	C
OR8K3	219473	genome.wustl.edu	37	11	56086212	56086212	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:56086212C>T	ENST00000312711.1	+	1	430	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	144						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(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGTCAGGTGCTGGTAGCAAT	0.408																																																	0													121.0	117.0	118.0					11																	56086212		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.430C>T	11.37:g.56086212C>T			Q6IFC4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L144	ENST00000312711.1	37	c.430	CCDS31527.1	11																																																																																			OR8K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181689		0.408	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	-	0.00	39	0	C	NM_001005202		56086212	+1	tier1	-	no_errors	ENST00000312711	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.158	T
ORC3	23595	genome.wustl.edu	37	6	88318993	88318993	+	Intron	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:88318993G>C	ENST00000392844.3	+	7	761				ORC3_ENST00000417380.2_Intron|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000257789.4_Intron|ORC3_ENST00000546266.1_Intron	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3						DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CCCTTTTTAAGAAAATACTAC	0.279																																																	0													32.0	32.0	32.0					6																	88318993		2203	4299	6502	SO:0001627	intron_variant	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.713+46G>C	6.37:g.88318993G>C			A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	RNA	SNP	-	NULL	ENST00000392844.3	37	NULL	CCDS43486.1	6																																																																																			ORC3	-	-	ENSG00000135336		0.279	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2	-	0.00	104	0	G			88318993	+1	tier1	-	no_errors	ENST00000478028	ensembl	human	known	74_37	rna	9.74	139	15	SNP	0.000	C
OTUD4	54726	genome.wustl.edu	37	4	146077125	146077125	+	Missense_Mutation	SNP	G	G	T	rs150581210		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:146077125G>T	ENST00000447906.2	-	8	840	c.653C>A	c.(652-654)gCt>gAt	p.A218D	OTUD4_ENST00000454497.2_Missense_Mutation_p.A153D|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATTCACATCAGCAGCAGCAGC	0.338																																																	0													60.0	64.0	63.0					4																	146077125		2202	4300	6502	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653C>A	4.37:g.146077125G>T	ENSP00000395487:p.Ala218Asp		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.A218D	ENST00000447906.2	37	c.653		4	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710490	0.00712	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.32515	1.46;1.47;1.45	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.14743	0.0356	N	0.14661	0.345	0.80722	D	1	B;B	0.20988	0.05;0.017	B;B	0.18871	0.023;0.009	T	0.13737	-1.0498	8	0.16420	T	0.52	-6.3701	.	.	.	.	218;218	G3V0I6;Q01804	.;OTUD4_HUMAN	D	153;218;153	ENSP00000409279:A153D;ENSP00000395487:A218D;ENSP00000425972:A153D	ENSP00000395487:A218D	A	-	2	0	OTUD4	146296575	0.999000	0.42202	0.716000	0.30569	0.443000	0.32047	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	GCT	OTUD4	-	NULL	ENSG00000164164		0.338	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2		0.00	110	0	G	NM_017493		146077125	-1			no_errors	ENST00000447906	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.904	T
PACS1	55690	genome.wustl.edu	37	11	65983997	65983999	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:65983997_65983999delCTC	ENST00000320580.4	+	6	845_847	c.812_814delCTC	c.(811-816)tctcct>tct	p.P272del		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	272					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCAGATCGTTCTCCTGATATTGA	0.453																																																	0																																										SO:0001651	inframe_deletion	0			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.812_814delCTC	11.37:g.65983997_65983999delCTC	ENSP00000316454:p.Pro272del		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	In_Frame_Del	DEL	pfam_Phosphofurin_acidic_CS-1	p.P272in_frame_del	ENST00000320580.4	37	c.812_814	CCDS8129.1	11																																																																																			PACS1	-	NULL	ENSG00000175115		0.453	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2		0.00	80	0	CTC	NM_018026		65983999	+1	tier1		no_errors	ENST00000320580	ensembl	human	known	74_37	in_frame_del	22.89	64	19	DEL	1.000:0.940:1.000	-
PAPSS2	9060	genome.wustl.edu	37	10	89475508	89475508	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:89475508A>G	ENST00000361175.4	+	7	1142	c.773A>G	c.(772-774)cAg>cGg	p.Q258R	PAPSS2_ENST00000427144.2_Missense_Mutation_p.Q262R|PAPSS2_ENST00000456849.1_Missense_Mutation_p.Q258R	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	258					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAGTGGGTCCAGGTTTTGAGC	0.468																																																	0													120.0	113.0	115.0					10																	89475508		2203	4300	6503	SO:0001583	missense	0			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.773A>G	10.37:g.89475508A>G	ENSP00000354436:p.Gln258Arg		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.Q258R	ENST00000361175.4	37	c.773	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622384	0.87460	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.22743	1.94;1.94;1.94	5.44	5.44	0.79542	Sulphate adenylyltransferase (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.92507	3.315	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.91635	0.999;0.995	T	0.68872	-0.5294	10	0.87932	D	0	-19.1868	15.5104	0.75776	1.0:0.0:0.0:0.0	.	258;258	O95340;O95340-2	PAPS2_HUMAN;.	R	258;258;262;257	ENSP00000354436:Q258R;ENSP00000406157:Q258R;ENSP00000397123:Q262R	ENSP00000354436:Q258R	Q	+	2	0	PAPSS2	89465488	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	8.855000	0.92236	2.056000	0.61249	0.459000	0.35465	CAG	PAPSS2	-	superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase	ENSG00000198682		0.468	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	-	0.00	88	0	A			89475508	+1	tier1	-	no_errors	ENST00000456849	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G
PAOX	196743	genome.wustl.edu	37	10	135202509	135202509	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:135202509A>T	ENST00000278060.5	+	5	1254	c.1171A>T	c.(1171-1173)Atg>Ttg	p.M391L	RP11-108K14.8_ENST00000468317.2_5'Flank|PAOX_ENST00000357296.3_Missense_Mutation_p.M391L|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.S306S|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	529					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GTCTGAGTTCATGGAGACTCT	0.542																																																	0													300.0	299.0	299.0					10																	135202509		2203	4300	6503	SO:0001583	missense	0			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1171A>T	10.37:g.135202509A>T	ENSP00000278060:p.Met391Leu		D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	pfam_Amino_oxidase	p.M391L	ENST00000278060.5	37	c.1171	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	a	21.0	4.075936	0.76415	.	.	ENSG00000148832	ENST00000368542;ENST00000368538;ENST00000278060;ENST00000357296	D;D	0.91996	-2.95;-2.95	5.54	5.54	0.83059	.	0.075117	0.85682	D	0.000000	D	0.89012	0.6594	.	.	.	0.80722	D	1	B;P	0.40638	0.009;0.725	B;B	0.36666	0.091;0.23	D	0.89621	0.3848	9	0.59425	D	0.04	-58.5921	13.6352	0.62219	1.0:0.0:0.0:0.0	.	391;391	Q6QHF9-4;Q6QHF9-2	.;.	L	343;112;391;391	ENSP00000278060:M391L;ENSP00000349847:M391L	ENSP00000278060:M391L	M	+	1	0	PAOX	135052499	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.704000	0.91351	2.097000	0.63578	0.533000	0.62120	ATG	PAOX	-	pfam_Amino_oxidase	ENSG00000148832		0.542	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	HGNC	protein_coding	OTTHUMT00000051146.2	-	0.00	71	0	A	NM_152911		135202509	+1	tier1	-	no_errors	ENST00000278060	ensembl	human	known	74_37	missense	19.30	46	11	SNP	1.000	T
PBX3	5090	genome.wustl.edu	37	9	128724437	128724437	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:128724437A>T	ENST00000373489.5	+	7	1082	c.1066A>T	c.(1066-1068)Agt>Tgt	p.S356C	PBX3_ENST00000373487.4_Missense_Mutation_p.S377C|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000373483.2_Missense_Mutation_p.S175C|PBX3_ENST00000447726.2_Missense_Mutation_p.S281C	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	356					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GAACATGCAGAGTCTGAATGG	0.478																																																	0													93.0	85.0	88.0					9																	128724437		2203	4300	6503	SO:0001583	missense	0				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1066A>T	9.37:g.128724437A>T	ENSP00000362588:p.Ser356Cys		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S356C	ENST00000373489.5	37	c.1066	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254503	0.80135	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.89875	-2.35;1.73;-2.53;-2.58	5.83	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.63880	0.993;0.97	P;P	0.60012	0.867;0.566	D	0.91097	0.4911	10	0.66056	D	0.02	.	12.1689	0.54146	0.8717:0.0:0.0:0.1283	.	377;356	Q5JS98;P40426	.;PBX3_HUMAN	C	356;377;175;281	ENSP00000362588:S356C;ENSP00000362586:S377C;ENSP00000362582:S175C;ENSP00000387456:S281C	ENSP00000362582:S175C	S	+	1	0	PBX3	127764258	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.023000	0.76437	0.988000	0.38734	0.528000	0.53228	AGT	PBX3	-	NULL	ENSG00000167081		0.478	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	-	0.00	66	0	A			128724437	+1	tier1	-	no_errors	ENST00000373489	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	T
PCDHGB4	8641	genome.wustl.edu	37	5	140768871	140768871	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:140768871G>C	ENST00000519479.1	+	1	1420	c.1420G>C	c.(1420-1422)Gct>Cct	p.A474P	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	474	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGTCAGGGCTTCTGATCC	0.547																																																	0													73.0	83.0	80.0					5																	140768871		1916	4112	6028	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1420G>C	5.37:g.140768871G>C	ENSP00000428288:p.Ala474Pro		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A474P	ENST00000519479.1	37	c.1420	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	19.69	3.873881	0.72180	.	.	ENSG00000253953	ENST00000519479	T	0.61980	0.06	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89326	0.6683	H	0.99634	4.67	0.47065	D	0.999309	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94193	0.7443	9	0.87932	D	0	.	18.7006	0.91619	0.0:0.0:1.0:0.0	.	474;474	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	P	474	ENSP00000428288:A474P	ENSP00000428288:A474P	A	+	1	0	PCDHGB4	140749055	1.000000	0.71417	0.991000	0.47740	0.039000	0.13416	6.456000	0.73501	2.572000	0.86782	0.655000	0.94253	GCT	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.547	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1		0.00	38	0	G	NM_003736		140768871	+1			no_errors	ENST00000519479	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	C
CFAP221	200373	genome.wustl.edu	37	2	120388409	120388409	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:120388409T>G	ENST00000413369.3	+	19	1993	c.1906T>G	c.(1906-1908)Tca>Gca	p.S636A	PCDP1_ENST00000602047.1_Missense_Mutation_p.S350A	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TGGCAAAACATCAGTCTTGAG	0.458																																																	0													190.0	178.0	182.0					2																	120388409		2203	4300	6503	SO:0001583	missense	0																														ENST00000413369.3:c.1906T>G	2.37:g.120388409T>G	ENSP00000393222:p.Ser636Ala			Missense_Mutation	SNP	NULL	p.S636A	ENST00000413369.3	37	c.1906	CCDS33282.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.46|15.46	2.841186|2.841186	0.51057|0.51057	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000443972;ENST00000413057|ENST00000295220;ENST00000413369	.|T	.|0.35605	.|1.3	4.91|4.91	3.75|3.75	0.43078|0.43078	.|.	.|0.413275	.|0.20834	.|N	.|0.084832	T|T	0.41743|0.41743	0.1172|0.1172	L|L	0.46157|0.46157	1.445|1.445	0.34786|0.34786	D|D	0.73525|0.73525	.|D;P	.|0.69078	.|0.997;0.952	.|P;P	.|0.55391	.|0.775;0.718	T|T	0.54268|0.54268	-0.8319|-0.8319	5|10	.|0.56958	.|D	.|0.05	-7.0816|-7.0816	7.3573|7.3573	0.26727|0.26727	0.0:0.0986:0.0:0.9014|0.0:0.0986:0.0:0.9014	.|.	.|480;636	.|Q4G0U5-3;Q4G0U5	.|.;PCDP1_HUMAN	Q|A	194;183|350;636	.|ENSP00000393222:S636A	.|ENSP00000295220:S350A	H|S	+|+	3|1	2|0	AC069154.2|AC069154.2	120104879|120104879	0.006000|0.006000	0.16342|0.16342	0.131000|0.131000	0.22000|0.22000	0.091000|0.091000	0.18340|0.18340	0.835000|0.835000	0.27531|0.27531	0.893000|0.893000	0.36288|0.36288	0.460000|0.460000	0.39030|0.39030	CAT|TCA	PCDP1	-	NULL	ENSG00000163075		0.458	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_gn	protein_coding	OTTHUMT00000464236.1	-	0.00	44	0	T			120388409	+1	tier1	-	no_errors	ENST00000413369	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.280	G
PCNXL3	399909	genome.wustl.edu	37	11	65396125	65396125	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:65396125C>T	ENST00000355703.3	+	23	4301	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1254						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCTGGCAGATCACCTGGGGCT	0.612																																																	0													63.0	66.0	65.0					11																	65396125		2111	4222	6333	SO:0001819	synonymous_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3762C>T	11.37:g.65396125C>T			Q6MZN8	Silent	SNP	pfam_Pecanex	p.I1254	ENST00000355703.3	37	c.3762	CCDS44650.1	11																																																																																			PCNXL3	-	NULL	ENSG00000197136		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0.00	63	0	C	NM_032223		65396125	+1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	silent	46.15	35	30	SNP	1.000	T
PDE4C	5143	genome.wustl.edu	37	19	18366121	18366122	+	5'UTR	INS	-	-	GCG			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:18366121_18366122insGCG	ENST00000355502.3	-	0	107_108				PDE4C_ENST00000596647.1_5'UTR			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ACGCCATTCCTGCGCCGGGAGG	0.629																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.-765->CGC	19.37:g.18366122_18366124dupGCG			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	RNA	INS	-	NULL	ENST00000355502.3	37	NULL	CCDS12373.1	19																																																																																			PDE4C	-	-	ENSG00000105650		0.629	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1		0.00	20	0	-			18366122	-1	tier1		no_errors	ENST00000596647	ensembl	human	known	74_37	rna	27.50	29	11	INS	0.111:0.055	GCG
PDZD2	23037	genome.wustl.edu	37	5	32058012	32058012	+	Missense_Mutation	SNP	C	C	T	rs375591884		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:32058012C>T	ENST00000438447.1	+	12	2391	c.2003C>T	c.(2002-2004)aCg>aTg	p.T668M	PDZD2_ENST00000282493.3_Missense_Mutation_p.T668M			O15018	PDZD2_HUMAN	PDZ domain containing 2	668	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTGTTTTAACGGTACGCACA	0.478											OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	MET/THR	0,4406		0,0,2203	66.0	60.0	62.0		2003	5.2	0.6	5		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDZD2	NM_178140.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	668/2840	32058012	1,13005	2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2003C>T	5.37:g.32058012C>T	ENSP00000402033:p.Thr668Met	829	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T668M	ENST00000438447.1	37	c.2003	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995606	0.54147	0.0	1.16E-4	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.43688	0.94;0.94	6.06	5.2	0.72013	PDZ/DHR/GLGF (3);	0.000000	0.48286	D	0.000194	T	0.64057	0.2564	M	0.79475	2.455	0.51767	D	0.999934	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.65352	-0.6189	10	0.40728	T	0.16	.	13.1409	0.59434	0.0:0.9233:0.0:0.0767	.	494;668	B4E3P2;O15018	.;PDZD2_HUMAN	M	668;487;668	ENSP00000402033:T668M;ENSP00000282493:T668M	ENSP00000282493:T668M	T	+	2	0	PDZD2	32093769	1.000000	0.71417	0.587000	0.28692	0.072000	0.16883	7.134000	0.77268	1.583000	0.49898	-0.142000	0.14014	ACG	PDZD2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000133401		0.478	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0.00	50	0	C			32058012	+1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	40.00	27	18	SNP	0.987	T
PEX5	5830	genome.wustl.edu	37	12	7343151	7343151	+	Intron	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:7343151G>C	ENST00000455147.2	+	3	727				PEX5_ENST00000266563.5_Intron|PEX5_ENST00000434354.2_Missense_Mutation_p.A60P|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000420616.2_Intron|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000412720.2_Intron|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000266564.3_Intron	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AAGCCCAGGTGCAGCCTCTGA	0.632																																																	0													10.0	12.0	12.0					12																	7343151		2163	4228	6391	SO:0001627	intron_variant	0			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.147+31G>C	12.37:g.7343151G>C			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A60P	ENST00000455147.2	37	c.178	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	4.863	0.160424	0.09287	.	.	ENSG00000139197	ENST00000434354;ENST00000396637	D;D	0.87650	-2.28;-2.1	.	.	.	.	.	.	.	.	T	0.73024	0.3534	.	.	.	0.09310	N	0.999999	P	0.42993	0.797	B	0.31191	0.125	T	0.61525	-0.7045	5	.	.	.	.	.	.	.	.	60	B4DZ45	.	P	60	ENSP00000407401:A60P;ENSP00000379877:A60P	.	A	+	1	0	PEX5	7234418	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	0.032000	0.13732	0.502000	0.28037	0.000000	0.15137	GCA	PEX5	-	NULL	ENSG00000139197		0.632	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	-	0.00	47	0	G	NM_000319		7343151	+1	tier1	-	no_errors	ENST00000434354	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.005	C
PHF13	148479	genome.wustl.edu	37	1	6680031	6680031	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:6680031A>G	ENST00000377648.4	+	3	692	c.310A>G	c.(310-312)Agt>Ggt	p.S104G	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	104					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCAAGCCCAGTAACTTCCT	0.572																																																	0													46.0	49.0	48.0					1																	6680031		2203	4300	6503	SO:0001583	missense	0			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.310A>G	1.37:g.6680031A>G	ENSP00000366876:p.Ser104Gly		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.S104G	ENST00000377648.4	37	c.310	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270950	0.40194	.	.	ENSG00000116273	ENST00000377648	T	0.49432	0.78	5.47	5.47	0.80525	.	0.248012	0.46758	D	0.000266	T	0.33702	0.0872	L	0.28115	0.83	0.39075	D	0.96078	B	0.15930	0.015	B	0.14023	0.01	T	0.19484	-1.0304	10	0.28530	T	0.3	-0.0417	10.7709	0.46321	0.9235:0.0:0.0765:0.0	.	104	Q86YI8	PHF13_HUMAN	G	104	ENSP00000366876:S104G	ENSP00000366876:S104G	S	+	1	0	PHF13	6602618	0.945000	0.32115	0.986000	0.45419	0.939000	0.58152	1.534000	0.36051	2.071000	0.62044	0.459000	0.35465	AGT	PHF13	-	NULL	ENSG00000116273		0.572	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1	-	0.00	48	0	A	NM_153812		6680031	+1	tier1	-	no_errors	ENST00000377648	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G
PHF19	26147	genome.wustl.edu	37	9	123632171	123632171	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:123632171delC	ENST00000373896.3	-	5	669	c.417delG	c.(415-417)ctgfs	p.L140fs	PHF19_ENST00000312189.6_Frame_Shift_Del_p.L140fs|PHF19_ENST00000419155.1_5'Flank|PHF19_ENST00000487555.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	140					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTGTGAGCAGGGGCTGGT	0.662																																																	0													37.0	31.0	33.0					9																	123632171		2199	4299	6498	SO:0001589	frameshift_variant	0			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.417delG	9.37:g.123632171delC	ENSP00000363003:p.Leu140fs		Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD	p.L140fs	ENST00000373896.3	37	c.417	CCDS35116.1	9																																																																																			PHF19	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000119403		0.662	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF19	HGNC	protein_coding	OTTHUMT00000053838.3		0.00	45	0	C	XM_045308		123632171	-1	tier1		no_errors	ENST00000373896	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-
PHF21B	112885	genome.wustl.edu	37	22	45279122	45279122	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr22:45279122G>T	ENST00000313237.5	-	13	1590	c.1440C>A	c.(1438-1440)gaC>gaA	p.D480E	PHF21B_ENST00000404079.2_Missense_Mutation_p.D426E|PHF21B_ENST00000403565.1_Missense_Mutation_p.D276E|PHF21B_ENST00000396103.3_Missense_Mutation_p.D438E	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	480							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)		CCCGCAGGCGGTCCAGGGATG	0.637																																																	0													50.0	58.0	55.0					22																	45279122		2203	4300	6503	SO:0001583	missense	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.1440C>A	22.37:g.45279122G>T	ENSP00000324403:p.Asp480Glu		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D480E	ENST00000313237.5	37	c.1440	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	g	6.607	0.480407	0.12581	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079	D;T;T;T	0.84873	-1.91;-1.34;-1.32;-1.32	3.49	1.05	0.20165	.	0.172012	0.36101	U	0.002800	T	0.61961	0.2389	N	0.05534	-0.03	0.80722	D	1	B;B;B;B	0.14805	0.011;0.007;0.007;0.005	B;B;B;B	0.17433	0.018;0.008;0.008;0.003	T	0.53704	-0.8401	10	0.05436	T	0.98	-18.1793	6.3255	0.21240	0.0:0.4138:0.2957:0.2905	.	438;426;480;276	Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;PF21B_HUMAN;.	E	276;480;438;426	ENSP00000385053:D276E;ENSP00000324403:D480E;ENSP00000379410:D438E;ENSP00000385105:D426E	ENSP00000324403:D480E	D	-	3	2	PHF21B	43657786	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.730000	0.26043	0.634000	0.30469	0.299000	0.19835	GAC	PHF21B	-	NULL	ENSG00000056487		0.637	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0.00	65	0	G	NM_138415		45279122	-1	tier1	-	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	40.32	37	25	SNP	0.997	T
PI4K2B	55300	genome.wustl.edu	37	4	25254044	25254044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:25254044G>T	ENST00000264864.6	+	2	559	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	PI4K2B_ENST00000512921.1_Nonsense_Mutation_p.E28*	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	124					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AATTTTTCCAGAAAGAATCTC	0.373																																																	0													112.0	118.0	116.0					4																	25254044		2203	4300	6503	SO:0001587	stop_gained	0			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.370G>T	4.37:g.25254044G>T	ENSP00000264864:p.Glu124*		Q9NUW2	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom	p.E124*	ENST00000264864.6	37	c.370	CCDS3433.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.760157	0.97817	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	.	.	.	5.43	4.58	0.56647	.	0.046025	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-16.1394	16.1209	0.81357	0.0:0.1341:0.8659:0.0	.	.	.	.	X	28;124;93	.	ENSP00000264864:E124X	E	+	1	0	PI4K2B	24863142	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.666000	0.61554	1.275000	0.44379	0.467000	0.42956	GAA	PI4K2B	-	NULL	ENSG00000038210		0.373	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2B	HGNC	protein_coding	OTTHUMT00000250415.1	-	0.00	41	0	G	NM_018323		25254044	+1	tier1	-	no_errors	ENST00000264864	ensembl	human	known	74_37	nonsense	9.68	28	3	SNP	1.000	T
PIK3CD	5293	genome.wustl.edu	37	1	9778916	9778916	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:9778916C>T	ENST00000377346.4	+	9	1380	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	PIK3CD_ENST00000536656.1_Silent_p.Y360Y|PIK3CD_ENST00000543390.1_Silent_p.Y62Y|PIK3CD_ENST00000361110.2_Silent_p.Y360Y	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	395	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TTGCGCTGTACGCCGTGATCG	0.642																																																	0													85.0	75.0	78.0					1																	9778916		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1185C>T	1.37:g.9778916C>T			A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Y360	ENST00000377346.4	37	c.1080	CCDS104.1	1																																																																																			PIK3CD	-	pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom	ENSG00000171608		0.642	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	-	0.00	81	0	C	NM_005026		9778916	+1	tier1	-	no_errors	ENST00000536656	ensembl	human	known	74_37	silent	5.31	107	6	SNP	0.982	T
PIKFYVE	200576	genome.wustl.edu	37	2	209195411	209195411	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:209195411G>A	ENST00000264380.4	+	23	4114	c.3956G>A	c.(3955-3957)tGc>tAc	p.C1319Y		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1319					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGTAGAATCTGCAAACAGGTA	0.363																																																	0													136.0	137.0	137.0					2																	209195411		2203	4300	6503	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3956G>A	2.37:g.209195411G>A	ENSP00000264380:p.Cys1319Tyr		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.C1319Y	ENST00000264380.4	37	c.3956	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415631	0.83449	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.75367	-0.93;-0.93	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	M	0.90145	3.09	0.80722	D	1	D;D	0.71674	0.998;0.992	D;D	0.74023	0.944;0.982	D	0.90697	0.4617	10	0.87932	D	0	-10.2216	19.861	0.96785	0.0:0.0:1.0:0.0	.	1319;1263	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	Y	1319;895;1263	ENSP00000264380:C1319Y;ENSP00000405736:C1263Y	ENSP00000264380:C1319Y	C	+	2	0	PIKFYVE	208903656	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.675000	0.98638	2.767000	0.95098	0.655000	0.94253	TGC	PIKFYVE	-	NULL	ENSG00000115020		0.363	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2		0.00	85	0	G	NM_015040		209195411	+1			no_errors	ENST00000264380	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A
PIP5K1C	23396	genome.wustl.edu	37	19	3653585	3653585	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:3653585G>A	ENST00000335312.3	-	7	712	c.624C>T	c.(622-624)aaC>aaT	p.N208N	PIP5K1C_ENST00000537021.1_Silent_p.N208N|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.N208N|PIP5K1C_ENST00000589578.1_Silent_p.N208N	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	208	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTGGTTGAGGTTCTGCCGGG	0.652																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													53.0	52.0	52.0					19																	3653585		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.624C>T	19.37:g.3653585G>A			B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.N208	ENST00000335312.3	37	c.624	CCDS32872.1	19																																																																																			PIP5K1C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000186111		0.652	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	-	0.00	76	0	G	NM_012398		3653585	-1	tier1	-	no_errors	ENST00000537021	ensembl	human	known	74_37	silent	60.58	41	63	SNP	1.000	A
PITPNM2	57605	genome.wustl.edu	37	12	123471955	123471955	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:123471955T>A	ENST00000542749.1	-	21	3349	c.3286A>T	c.(3286-3288)Agc>Tgc	p.S1096C	PITPNM2_ENST00000392428.1_Missense_Mutation_p.S817C|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S1096C|PITPNM2_ENST00000280562.5_Missense_Mutation_p.S1090C			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1096					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGATGTAGCTGTCGGCAAAC	0.622																																																	0													94.0	85.0	88.0					12																	123471955		2203	4300	6503	SO:0001583	missense	0			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3286A>T	12.37:g.123471955T>A	ENSP00000437611:p.Ser1096Cys		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.S1096C	ENST00000542749.1	37	c.3286	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207811	0.58343	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.46451	1.2;1.2;0.87;1.2	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.49126	1.545	0.58432	D	0.999999	P;D	0.89917	0.48;1.0	B;D	0.76575	0.204;0.988	T	0.54622	-0.8266	10	0.35671	T	0.21	-42.5235	14.9483	0.71050	0.0:0.0:0.0:1.0	.	1090;1096	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	C	1090;1096;817;1096	ENSP00000280562:S1090C;ENSP00000322218:S1096C;ENSP00000376223:S817C;ENSP00000437611:S1096C	ENSP00000280562:S1090C	S	-	1	0	PITPNM2	122037908	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	4.646000	0.61411	2.117000	0.64856	0.459000	0.35465	AGC	PITPNM2	-	NULL	ENSG00000090975		0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0.00	44	0	T	NM_020845		123471955	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A
PKP4	8502	genome.wustl.edu	37	2	159537052	159537052	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:159537052G>T	ENST00000389759.3	+	22	3554	c.3442G>T	c.(3442-3444)Gtt>Ttt	p.V1148F	AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.V1105F	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1148					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGATGACCGAGTTCACTTTCC	0.368										HNSCC(62;0.18)																																							0													138.0	133.0	135.0					2																	159537052		2203	4300	6503	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3442G>T	2.37:g.159537052G>T	ENSP00000374409:p.Val1148Phe		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V1148F	ENST00000389759.3	37	c.3442	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666646	0.67814	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.77620	-1.11;-1.05	5.49	5.49	0.81192	.	0.136815	0.50627	D	0.000104	T	0.80188	0.4577	L	0.29908	0.895	0.58432	D	0.999999	D;P;D	0.56287	0.975;0.919;0.975	P;P;P	0.55508	0.736;0.682;0.777	T	0.82236	-0.0557	10	0.87932	D	0	-9.2757	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1103;1105;1148	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	F	1105;1148	ENSP00000374407:V1105F;ENSP00000374409:V1148F	ENSP00000374407:V1105F	V	+	1	0	PKP4	159245298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.419000	0.52728	2.733000	0.93635	0.655000	0.94253	GTT	PKP4	-	NULL	ENSG00000144283		0.368	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	-	0.00	86	0	G			159537052	+1	tier1	-	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
PLEC	5339	genome.wustl.edu	37	8	145018819	145018819	+	Intron	SNP	G	G	A	rs564343432		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:145018819G>A	ENST00000322810.4	-	1	693				PLEC_ENST00000398774.2_Missense_Mutation_p.P5S|PLEC_ENST00000354589.3_5'Flank|PLEC_ENST00000357649.2_5'Flank|MIR661_ENST00000384842.1_RNA|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCTACCGGGCACGATCTTC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		13661	0.0		0.001	False		,,,				2504	0.0																0													20.0	22.0	21.0					8																	145018819		1933	4122	6055	SO:0001627	intron_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.523+5532C>T	8.37:g.145018819G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.P5S	ENST00000322810.4	37	c.13	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	g	13.23	2.176269	0.38413	.	.	ENSG00000178209	ENST00000398774	D	0.95238	-3.65	3.94	3.04	0.35103	.	.	.	.	.	D	0.94321	0.8175	.	.	.	0.80722	D	1	D	0.54207	0.965	P	0.50136	0.632	D	0.92997	0.6420	8	0.66056	D	0.02	.	9.8711	0.41175	0.0:0.2089:0.7911:0.0	.	5	Q15149-7	.	S	5	ENSP00000381756:P5S	ENSP00000381756:P5S	P	-	1	0	PLEC	145090807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.544000	0.53640	0.719000	0.32188	0.556000	0.70494	CCC	PLEC	-	superfamily_CH-domain	ENSG00000178209		0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0.00	36	0	G	NM_000445		145018819	-1	tier1	-	no_errors	ENST00000398774	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A
PLEKHG5	57449	genome.wustl.edu	37	1	6531119	6531119	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:6531119C>A	ENST00000400915.3	-	14	1557	c.1491G>T	c.(1489-1491)gaG>gaT	p.E497D	PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E518D|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.E518D|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E478D|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E520D|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E441D|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E441D|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E441D|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E441D|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E441D|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E441D|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E510D	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	497	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCCTCCTCCTCCATGCAGT	0.711																																																	0													25.0	23.0	23.0					1																	6531119		2201	4295	6496	SO:0001583	missense	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1491G>T	1.37:g.6531119C>A	ENSP00000383706:p.Glu497Asp		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E520D	ENST00000400915.3	37	c.1560	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110693	0.77210	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.11	0.976	0.19727	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	L	0.49350	1.555	0.52501	D	0.999954	P;D;P;D;D	0.89917	0.533;1.0;0.771;1.0;1.0	B;D;P;D;D	0.91635	0.434;0.998;0.667;0.998;0.999	T	0.65853	-0.6067	10	0.22706	T	0.39	-28.5397	9.5959	0.39573	0.0:0.6914:0.0:0.3086	.	510;441;518;518;497	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	D	518;441;441;497;518;478;441;441;510;441;347;520;441	ENSP00000366977:E518D;ENSP00000344570:E441D;ENSP00000383704:E441D;ENSP00000383706:E497D;ENSP00000366969:E518D;ENSP00000366961:E478D;ENSP00000366957:E441D;ENSP00000366954:E441D;ENSP00000441445:E510D;ENSP00000366966:E441D;ENSP00000439625:E520D;ENSP00000437710:E441D	ENSP00000344570:E441D	E	-	3	2	PLEKHG5	6453706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.724000	0.38064	0.519000	0.28406	0.462000	0.41574	GAG	PLEKHG5	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000171680		0.711	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1		0.00	24	0	C	NM_020631		6531119	-1			no_errors	ENST00000537245	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	A
PLIN5	440503	genome.wustl.edu	37	19	4529803	4529803	+	Nonsense_Mutation	SNP	G	G	T	rs200136383		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:4529803G>T	ENST00000381848.3	-	4	412	c.332C>A	c.(331-333)tCg>tAg	p.S111*	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	111	Essential for lipid droplet targeting. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)		p.S111L(1)		endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TACCGTCTCCGAAGGTTGCTG	0.612																																																	1	Substitution - Missense(1)	endometrium(1)											80.0	83.0	82.0					19																	4529803		1931	4126	6057	SO:0001587	stop_gained	0			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.332C>A	19.37:g.4529803G>T	ENSP00000371272:p.Ser111*		A2RRC1|Q6ZS68	Nonsense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.S111*	ENST00000381848.3	37	c.332	CCDS42473.1	19	.	.	.	.	.	.	.	.	.	.	.	19.31	3.802653	0.70682	.	.	ENSG00000214456	ENST00000381848	.	.	.	4.2	4.2	0.49525	.	14.299300	0.01109	U	0.005535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9789	14.0444	0.64695	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000371272:S111X	S	-	2	0	PLIN5	4480803	0.999000	0.42202	0.991000	0.47740	0.151000	0.21798	7.538000	0.82048	1.897000	0.54924	0.462000	0.41574	TCG	PLIN5	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000214456		0.612	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	-	0.00	108	0	G	NM_001013706		4529803	-1	tier1	-	no_errors	ENST00000381848	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	0.995	T
PLXND1	23129	genome.wustl.edu	37	3	129284760	129284760	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:129284760T>A	ENST00000324093.4	-	24	4470	c.4292A>T	c.(4291-4293)gAg>gTg	p.E1431V	PLXND1_ENST00000393239.1_Missense_Mutation_p.E1431V	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1431					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTTCTGCTGCTCCAGCGCGTG	0.567																																					Ovarian(97;366 1484 3738 22084 39045)												0													112.0	94.0	100.0					3																	129284760		2203	4300	6503	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4292A>T	3.37:g.129284760T>A	ENSP00000317128:p.Glu1431Val		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E1431V	ENST00000324093.4	37	c.4292	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736092	0.89482	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.24908	1.83;1.83	4.86	4.86	0.63082	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	T	0.67158	-0.5741	10	0.87932	D	0	.	14.4915	0.67654	0.0:0.0:0.0:1.0	.	26;1431	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	V	1431	ENSP00000317128:E1431V;ENSP00000376931:E1431V	ENSP00000317128:E1431V	E	-	2	0	PLXND1	130767450	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.643000	0.83403	1.819000	0.53055	0.460000	0.39030	GAG	PLXND1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000004399		0.567	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0.00	71	0	T	NM_015103		129284760	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	12.50	70	10	SNP	1.000	A
PNISR	25957	genome.wustl.edu	37	6	99857222	99857222	+	Splice_Site	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:99857222T>C	ENST00000369239.5	-	6	706		c.e6-2		PNISR_ENST00000466057.1_5'Flank|PNISR_ENST00000438806.1_Splice_Site	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGCCCCATGCTGAAAGAGTAT	0.458																																																	1	Unknown(1)	lung(1)											71.0	74.0	73.0					6																	99857222		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.502-2A>G	6.37:g.99857222T>C			A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Splice_Site	SNP	-	e4-2	ENST00000369239.5	37	c.502-2	CCDS5043.1	6	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303430	0.60195	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.275	0.82640	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNISR	99963943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.705000	0.74644	2.248000	0.74166	0.477000	0.44152	.	PNISR	-	-	ENSG00000132424		0.458	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1		0.00	11	0	T	NM_032870	Intron	99857222	-1			no_errors	ENST00000369239	ensembl	human	known	74_37	splice_site	9.52	19	2	SNP	1.000	C
POLR3G	10622	genome.wustl.edu	37	5	89802443	89802443	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:89802443C>T	ENST00000399107.1	+	7	737	c.537C>T	c.(535-537)gaC>gaT	p.D179D	POLR3G_ENST00000504930.1_Silent_p.D179D	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	179	Glu-rich.|Poly-Asp.				cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		atgacgatgacgatgatgccg	0.373																																																	0													115.0	119.0	118.0					5																	89802443		2002	4161	6163	SO:0001819	synonymous_variant	0			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"""RNA polymerase subunits"""	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.537C>T	5.37:g.89802443C>T			A8MTH0	Silent	SNP	pfam_RNA_pol_III_Rpc31	p.D179	ENST00000399107.1	37	c.537	CCDS43337.1	5																																																																																			POLR3G	-	pfam_RNA_pol_III_Rpc31	ENSG00000113356		0.373	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3G	HGNC	protein_coding	OTTHUMT00000370462.1		0.00	129	0	C	NM_006467		89802443	+1			no_errors	ENST00000399107	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.000	T
POSTN	10631	genome.wustl.edu	37	13	38144910	38144910	+	Intron	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:38144910C>A	ENST00000379747.4	-	19	2297				POSTN_ENST00000379743.4_Intron|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000379742.4_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACAAATATTACCATTTAAGAT	0.303																																																	0																																										SO:0001627	intron_variant	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2180-104G>T	13.37:g.38144910C>A			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	RNA	SNP	-	NULL	ENST00000379747.4	37	NULL	CCDS9364.1	13																																																																																			POSTN	-	-	ENSG00000133110		0.303	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0.00	25	0	C	NM_006475		38144910	-1	tier1	-	no_errors	ENST00000473823	ensembl	human	known	74_37	rna	47.06	9	8	SNP	0.000	A
PRND	23627	genome.wustl.edu	37	20	4705275	4705275	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:4705275G>A	ENST00000305817.2	+	2	149	c.78G>A	c.(76-78)acG>acA	p.T26T		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	26			T -> P. {ECO:0000269|PubMed:10825657}.		protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGGTCCAGACGAGGGGCATCA	0.617																																																	0													62.0	56.0	58.0					20																	4705275		2203	4300	6503	SO:0001819	synonymous_variant	0			AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.78G>A	20.37:g.4705275G>A			A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom	p.T26	ENST00000305817.2	37	c.78	CCDS13081.1	20																																																																																			PRND	-	pfam_Doppel	ENSG00000171864		0.617	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRND	HGNC	protein_coding	OTTHUMT00000077827.2	-	0.00	102	0	G	NM_012409		4705275	+1	tier1	-	no_errors	ENST00000305817	ensembl	human	known	74_37	silent	13.85	56	9	SNP	0.000	A
PTPN9	5780	genome.wustl.edu	37	15	75798224	75798224	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:75798224C>T	ENST00000306726.2	-	7	1272	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	PTPN9_ENST00000564970.1_5'Flank	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	254					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGCCGTTCACCTGGGGTAGG	0.542																																																	0													98.0	93.0	95.0					15																	75798224		2197	4294	6491	SO:0001583	missense	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.760G>A	15.37:g.75798224C>T	ENSP00000303554:p.Val254Met		Q53XR9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.V254M	ENST00000306726.2	37	c.760	CCDS10280.1	15	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764359	0.31228	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84370	-1.84	5.92	2.79	0.32731	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.359432	0.31847	N	0.006962	T	0.74703	0.3751	L	0.36672	1.1	0.24983	N	0.99159	B	0.13594	0.008	B	0.09377	0.004	T	0.56062	-0.8041	10	0.17369	T	0.5	.	9.0662	0.36465	0.0:0.6065:0.2949:0.0986	.	254	P43378	PTN9_HUMAN	M	254;244	ENSP00000303554:V254M	ENSP00000303554:V254M	V	-	1	0	PTPN9	73585279	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.380000	0.52448	0.280000	0.22209	0.650000	0.86243	GTG	PTPN9	-	superfamily_CRAL-TRIO_dom	ENSG00000169410		0.542	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1		0.00	125	0	C			75798224	-1			no_errors	ENST00000306726	ensembl	human	known	74_37	missense	8.54	75	7	SNP	1.000	T
PTPRD	5789	genome.wustl.edu	37	9	8500925	8500925	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:8500925C>G	ENST00000381196.4	-	21	2500	c.1957G>C	c.(1957-1959)Gat>Cat	p.D653H	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D640H|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Missense_Mutation_p.D640H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.D653H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D653H|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	653	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTTCCCCATCCACTGCAGTG	0.448										TSP Lung(15;0.13)																																							0													238.0	226.0	230.0					9																	8500925		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1957G>C	9.37:g.8500925C>G	ENSP00000370593:p.Asp653His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.D653H	ENST00000381196.4	37	c.1957	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001905	0.74932	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050396	0.85682	D	0.000000	T	0.69242	0.3089	L	0.54863	1.705	0.80722	D	1	P;P;P	0.51057	0.941;0.928;0.851	P;P;P	0.57152	0.785;0.814;0.796	T	0.65619	-0.6124	9	.	.	.	.	19.7063	0.96072	0.0:1.0:0.0:0.0	.	640;653;653	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	H	653;653;640;640;653	ENSP00000370593:D653H;ENSP00000348812:D653H;ENSP00000353187:D640H;ENSP00000351293:D640H;ENSP00000438164:D653H	.	D	-	1	0	PTPRD	8490925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.484000	0.81180	2.644000	0.89710	0.561000	0.74099	GAT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	133	0	C			8500925	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	8.27	122	11	SNP	1.000	G
PTPRH	5794	genome.wustl.edu	37	19	55715273	55715273	+	Silent	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:55715273G>T	ENST00000376350.3	-	5	785	c.763C>A	c.(763-765)Cga>Aga	p.R255R	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	255	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GTTGTGTTTCGAGTCTCTGTT	0.552																																																	0													220.0	184.0	196.0					19																	55715273		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.763C>A	19.37:g.55715273G>T			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R255	ENST00000376350.3	37	c.763	CCDS33110.1	19																																																																																			PTPRH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080031		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	-	0.00	66	0	G			55715273	-1	tier1	-	no_errors	ENST00000376350	ensembl	human	known	74_37	silent	10.00	45	5	SNP	0.000	T
PXDN	7837	genome.wustl.edu	37	2	1667391	1667391	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:1667391G>T	ENST00000252804.4	-	12	1603	c.1553C>A	c.(1552-1554)aCt>aAt	p.T518N	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	518	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGGCTGCACAGTCAGGTGGGC	0.527																																																	0													86.0	93.0	91.0					2																	1667391		2027	4158	6185	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1553C>A	2.37:g.1667391G>T	ENSP00000252804:p.Thr518Asn		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.T518N	ENST00000252804.4	37	c.1553	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.526|8.526	0.869860|0.869860	0.17322|0.17322	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.68479	.|-0.33	5.79|5.79	2.03|2.03	0.26663|0.26663	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.355310	.|0.32952	.|N	.|0.005452	T|T	0.49321|0.49321	0.1550|0.1550	L|L	0.45051|0.45051	1.395|1.395	0.24258|0.24258	N|N	0.995297|0.995297	.|B;B	.|0.17038	.|0.02;0.003	.|B;B	.|0.23150	.|0.044;0.02	T|T	0.26573|0.26573	-1.0099|-1.0099	5|10	.|0.21014	.|T	.|0.42	-21.5257|-21.5257	2.0139|2.0139	0.03493|0.03493	0.2673:0.123:0.4828:0.127|0.2673:0.123:0.4828:0.127	.|.	.|518;518	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	M|N	514|518	.|ENSP00000252804:T518N	.|ENSP00000252804:T518N	L|T	-|-	1|2	2|0	PXDN|PXDN	1646398|1646398	1.000000|1.000000	0.71417|0.71417	0.137000|0.137000	0.22149|0.22149	0.704000|0.704000	0.40688|0.40688	3.888000|3.888000	0.56204|0.56204	0.098000|0.098000	0.17522|0.17522	-0.165000|-0.165000	0.13383|0.13383	CTG|ACT	PXDN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000130508		0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0.00	73	0	G	XM_056455		1667391	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.026	T
QPRT	23475	genome.wustl.edu	37	16	29708754	29708754	+	3'UTR	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:29708754C>T	ENST00000395384.4	+	0	1077				QPRT_ENST00000562473.1_3'UTR|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	AAGAGGATGACACCGGCCATG	0.567																																																	0													36.0	34.0	35.0					16																	29708754		2197	4300	6497	SO:0001624	3_prime_UTR_variant	0			D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"""nicotinate-nucleotide pyrophosphorylase (carboxylating)"""	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.*22C>T	16.37:g.29708754C>T			Q53XW7|Q96G22|Q9BSG6	RNA	SNP	-	NULL	ENST00000395384.4	37	NULL	CCDS10651.1	16																																																																																			QPRT	-	-	ENSG00000103485		0.567	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPRT	HGNC	protein_coding	OTTHUMT00000215011.2	-	0.00	65	0	C	NM_014298		29708754	+1	tier1	-	no_errors	ENST00000219771	ensembl	human	known	74_37	rna	23.81	32	10	SNP	0.000	T
QSOX1	5768	genome.wustl.edu	37	1	180151330	180151330	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:180151330C>G	ENST00000367602.3	+	6	702	c.628C>G	c.(628-630)Cac>Gac	p.H210D	QSOX1_ENST00000367600.5_Missense_Mutation_p.H210D			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	210					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTGTCCCAGCACAAAGGCGT	0.632																																																	0													150.0	123.0	132.0					1																	180151330		2203	4300	6503	SO:0001583	missense	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.628C>G	1.37:g.180151330C>G	ENSP00000356574:p.His210Asp		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.H210D	ENST00000367602.3	37	c.628	CCDS1337.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151450	0.38021	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.04654	3.69;3.58	5.28	0.485	0.16830	.	0.477728	0.27384	N	0.019604	T	0.04724	0.0128	L	0.60455	1.87	0.26240	N	0.978881	P;B;P	0.39282	0.536;0.437;0.666	B;B;B	0.32980	0.074;0.096;0.156	T	0.31251	-0.9950	10	0.44086	T	0.13	-2.6068	7.5196	0.27620	0.0:0.3138:0.0:0.6862	.	210;210;210	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	D	210	ENSP00000356574:H210D;ENSP00000356572:H210D	ENSP00000356572:H210D	H	+	1	0	QSOX1	178417953	0.999000	0.42202	0.209000	0.23619	0.772000	0.43724	1.501000	0.35693	0.109000	0.17891	0.603000	0.83216	CAC	QSOX1	-	NULL	ENSG00000116260		0.632	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	-	0.00	75	0	C	NM_002826		180151330	+1	tier1	-	no_errors	ENST00000367602	ensembl	human	known	74_37	missense	28.40	58	23	SNP	0.804	G
RARA	5914	genome.wustl.edu	37	17	38508238	38508238	+	Silent	SNP	G	G	A	rs200393055		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:38508238G>A	ENST00000254066.5	+	5	1001	c.546G>A	c.(544-546)ccG>ccA	p.P182P	RARA_ENST00000394086.3_Silent_p.P198P|RARA_ENST00000394089.2_Silent_p.P182P|RARA_ENST00000394081.3_Silent_p.P177P|RARA_ENST00000425707.3_Silent_p.P85P|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	182	Hinge.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|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)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CGCTGACGCCGGAGGTGGGGG	0.592			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																			Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	0													35.0	35.0	35.0					17																	38508238		2201	4298	6499	SO:0001819	synonymous_variant	0			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.546G>A	17.37:g.38508238G>A			B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.P182	ENST00000254066.5	37	c.546	CCDS11366.1	17																																																																																			RARA	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt	ENSG00000131759		0.592	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARA	HGNC	protein_coding	OTTHUMT00000257136.2	-	0.00	64	0	G			38508238	+1	tier1	rs200393055	no_errors	ENST00000254066	ensembl	human	known	74_37	silent	11.27	63	8	SNP	0.220	A
RASAL3	64926	genome.wustl.edu	37	19	15572331	15572331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:15572331delC	ENST00000343625.7	-	3	501	c.416delG	c.(415-417)ggcfs	p.G139fs		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	139					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGGGTGAAGCCCCCAATGTC	0.622																																																	0													10.0	12.0	12.0					19																	15572331		1913	4095	6008	SO:0001589	frameshift_variant	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.416delG	19.37:g.15572331delC	ENSP00000341905:p.Gly139fs		Q8N2T9|Q9H735	Frame_Shift_Del	DEL	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP	p.G139fs	ENST00000343625.7	37	c.416	CCDS46006.1	19																																																																																			RASAL3	-	NULL	ENSG00000105122		0.622	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3		0.00	134	0	C	NM_022904		15572331	-1	tier1		no_errors	ENST00000343625	ensembl	human	known	74_37	frame_shift_del	11.11	72	9	DEL	0.977	-
RASGRF2	5924	genome.wustl.edu	37	5	80363981	80363981	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:80363981G>A	ENST00000265080.4	+	3	593	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	176					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E176K(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CACAGAAATCGAAAGGCTTAA	0.383																																																	1	Substitution - Missense(1)	ovary(1)											123.0	117.0	119.0					5																	80363981		2203	4300	6503	SO:0001583	missense	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.526G>A	5.37:g.80363981G>A	ENSP00000265080:p.Glu176Lys		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E176K	ENST00000265080.4	37	c.526	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271995	0.59649	.	.	ENSG00000113319	ENST00000265080	T	0.41065	1.01	5.91	5.91	0.95273	.	0.088972	0.85682	D	0.000000	T	0.31857	0.0810	N	0.20986	0.625	0.52099	D	0.999947	B	0.22800	0.075	B	0.11329	0.006	T	0.11470	-1.0586	10	0.13470	T	0.59	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	176	O14827	RGRF2_HUMAN	K	176	ENSP00000265080:E176K	ENSP00000265080:E176K	E	+	1	0	RASGRF2	80399737	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.058000	0.89460	2.794000	0.96219	0.655000	0.94253	GAA	RASGRF2	-	NULL	ENSG00000113319		0.383	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2		0.00	56	0	G	NM_006909		80363981	+1			no_errors	ENST00000265080	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A
RBM12B	389677	genome.wustl.edu	37	8	94746686	94746686	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:94746686G>A	ENST00000399300.2	-	3	2166	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	651							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGGTTGCCTGAAGTCCTCCT	0.637																																																	0													88.0	90.0	89.0					8																	94746686		1868	4102	5970	SO:0001819	synonymous_variant	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1953C>T	8.37:g.94746686G>A			A8MYB5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F651	ENST00000399300.2	37	c.1953	CCDS43755.1	8																																																																																			RBM12B	-	NULL	ENSG00000183808		0.637	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	-	0.00	155	0	G	NM_203390		94746686	-1	tier1	-	no_errors	ENST00000399300	ensembl	human	known	74_37	silent	12.69	172	25	SNP	0.000	A
RBMXL2	27288	genome.wustl.edu	37	11	7111237	7111237	+	Missense_Mutation	SNP	C	C	T	rs376176065		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:7111237C>T	ENST00000306904.5	+	1	1073	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	296	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCCCCAGGACGGGGGACACC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		12922	0.0		0.0	False		,,,				2504	0.001																0								C	TRP/ARG	0,4384		0,0,2192	16.0	20.0	19.0		886	2.4	0.1	11		19	1,8561		0,1,4280	no	missense	RBMXL2	NM_014469.4	101	0,1,6472	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	296/393	7111237	1,12945	2192	4281	6473	SO:0001583	missense	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.886C>T	11.37:g.7111237C>T	ENSP00000304139:p.Arg296Trp		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R296W	ENST00000306904.5	37	c.886	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272150	0.23221	0.0	1.17E-4	ENSG00000170748	ENST00000306904	T	0.80994	-1.44	3.32	2.4	0.29515	.	0.000000	0.64402	U	0.000001	D	0.84005	0.5377	L	0.50333	1.59	0.42130	D	0.991461	D	0.89917	1.0	D	0.83275	0.996	T	0.82792	-0.0282	10	0.54805	T	0.06	.	8.3188	0.32117	0.4298:0.5702:0.0:0.0	.	296	O75526	HNRGT_HUMAN	W	296	ENSP00000304139:R296W	ENSP00000304139:R296W	R	+	1	2	RBMXL2	7067813	0.944000	0.32072	0.133000	0.22050	0.040000	0.13550	1.794000	0.38774	0.962000	0.38057	-0.224000	0.12420	CGG	RBMXL2	-	NULL	ENSG00000170748		0.667	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0.00	90	0	C	NM_014469		7111237	+1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	missense	60.40	40	61	SNP	0.672	T
RBP3	5949	genome.wustl.edu	37	10	48389059	48389059	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:48389059G>T	ENST00000224600.4	-	1	1932	c.1819C>A	c.(1819-1821)Ctg>Atg	p.L607M	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	607	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCACCACCCAGCCAGGCCTCG	0.672																																																	0													35.0	38.0	37.0					10																	48389059		2197	4295	6492	SO:0001583	missense	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1819C>A	10.37:g.48389059G>T	ENSP00000224600:p.Leu607Met		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.L607M	ENST00000224600.4	37	c.1819	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181658	0.21787	.	.	ENSG00000107618	ENST00000224600	T	0.62941	-0.01	5.43	4.53	0.55603	Interphotoreceptor retinol-binding (2);	0.083806	0.48286	D	0.000193	T	0.57651	0.2068	L	0.57536	1.79	0.46542	D	0.999098	D	0.64830	0.994	P	0.46685	0.524	T	0.58645	-0.7600	10	0.42905	T	0.14	-17.8418	5.5249	0.16953	0.1647:0.0:0.6652:0.1701	.	607	P10745	RET3_HUMAN	M	607	ENSP00000224600:L607M	ENSP00000224600:L607M	L	-	1	2	RBP3	48009065	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.521000	0.45563	1.310000	0.45006	0.561000	0.74099	CTG	RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	-	0.00	38	0	G	NM_002900		48389059	-1	tier1	-	no_errors	ENST00000224600	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	T
RSRC2	65117	genome.wustl.edu	37	12	122995710	122995710	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:122995710C>G	ENST00000331738.7	-	7	896	c.751G>C	c.(751-753)Gaa>Caa	p.E251Q	RSRC2_ENST00000354654.2_Missense_Mutation_p.E203Q|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	251							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTCGCTGTTCTTGTAATTTC	0.289																																																	0													92.0	85.0	87.0					12																	122995710		2202	4299	6501	SO:0001583	missense	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.751G>C	12.37:g.122995710C>G	ENSP00000330188:p.Glu251Gln		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.E251Q	ENST00000331738.7	37	c.751	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209124	0.79240	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.17370	2.28;2.28;2.28	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D;D	0.61080	0.989;0.968;0.989;0.968;0.968	D;D;D;D;P	0.70487	0.969;0.969;0.969;0.969;0.859	T	0.01133	-1.1441	10	0.37606	T	0.19	.	17.9941	0.89177	0.0:1.0:0.0:0.0	.	251;203;251;192;19	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4;B3KMH4	.;.;RSRC2_HUMAN;.;.	Q	251;203;251;192	ENSP00000330188:E251Q;ENSP00000346678:E203Q;ENSP00000343315:E192Q	ENSP00000330188:E251Q	E	-	1	0	RSRC2	121561663	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.920000	0.70017	2.656000	0.90262	0.591000	0.81541	GAA	RSRC2	-	NULL	ENSG00000111011		0.289	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	-	0.00	56	0	C	NM_023012		122995710	-1	tier1	-	no_errors	ENST00000331738	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	G
SCARNA2	677766	genome.wustl.edu	37	1	109643014	109643014	+	lincRNA	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:109643014G>A	ENST00000458748.1	+	0	200					NR_003023.1				small Cajal body-specific RNA 2																		ATCGGATCGTGACCCCAGCCC	0.667																																																	0													39.0	40.0	39.0					1																	109643014		876	1991	2867			0			BK005568		1q13.1	2013-09-05			ENSG00000238881	ENSG00000270066		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32558	non-coding RNA	RNA, small nucleolar						15556860	Standard	NR_003023		Approved	mgU2-25/61, HBII-382	uc001dwo.1				1.37:g.109643014G>A				RNA	SNP	-	NULL	ENST00000458748.1	37	NULL		1																																																																																			SCARNA2	-	-	ENSG00000270066		0.667	SCARNA2-201	KNOWN	basic	snoRNA	SCARNA2	HGNC	lincRNA			0.00	23	0	G	NR_003023		109643014	+1			no_errors	ENST00000458748	ensembl	human	known	74_37	rna	8.00	45	4	SNP	0.981	A
SCN9A	6335	genome.wustl.edu	37	2	167056026	167056026	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:167056026A>C	ENST00000409435.1	-	26	5122	c.5123T>G	c.(5122-5124)cTt>cGt	p.L1708R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1709R|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1697R|SCN9A_ENST00000375387.4_Missense_Mutation_p.L1709R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1708					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTACTGTTAAGAATAGGTGC	0.413																																																	0													200.0	213.0	209.0					2																	167056026		2203	4300	6503	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5123T>G	2.37:g.167056026A>C	ENSP00000386330:p.Leu1708Arg		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.L1709R	ENST00000409435.1	37	c.5126	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252308	0.59212	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27	5.86	5.86	0.93980	.	0.000000	0.53938	D	0.000053	D	0.99363	0.9776	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98748	1.0719	10	0.87932	D	0	.	16.2479	0.82454	1.0:0.0:0.0:0.0	.	1697	E7EUN6	.	R	1697;1709;1709;1708	ENSP00000386306:L1697R;ENSP00000364536:L1709R;ENSP00000304748:L1709R;ENSP00000386330:L1708R	ENSP00000304748:L1709R	L	-	2	0	SCN9A	166764272	1.000000	0.71417	0.999000	0.59377	0.535000	0.34838	9.031000	0.93731	2.241000	0.73720	0.533000	0.62120	CTT	SCN9A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000169432		0.413	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0.00	99	0	A	NM_002977		167056026	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	10.14	62	7	SNP	1.000	C
SDK2	54549	genome.wustl.edu	37	17	71389755	71389755	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:71389755C>T	ENST00000392650.3	-	27	3842	c.3842G>A	c.(3841-3843)cGc>cAc	p.R1281H	SDK2_ENST00000388726.3_Missense_Mutation_p.R1281H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1281	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1281H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCCCCGATGCGTGTGAAGGC	0.637																																																	1	Substitution - Missense(1)	large_intestine(1)											61.0	55.0	57.0					17																	71389755		2203	4300	6503	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3842G>A	17.37:g.71389755C>T	ENSP00000376421:p.Arg1281His		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1281H	ENST00000392650.3	37	c.3842	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.215483	0.95104	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57595	0.39;0.39;0.39	5.41	5.41	0.78517	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.058360	0.64402	D	0.000002	T	0.76856	0.4046	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.994	T	0.79364	-0.1834	10	0.54805	T	0.06	.	19.1974	0.93695	0.0:1.0:0.0:0.0	.	1281;1281;1281	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	H	905;1281;1281;457;1281	ENSP00000376421:R1281H;ENSP00000373378:R1281H;ENSP00000407098:R457H	ENSP00000324967:R1281H	R	-	2	0	SDK2	68901350	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.324000	0.79115	2.527000	0.85204	0.563000	0.77884	CGC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	-	0.00	21	0	C	NM_019064		71389755	-1	tier1	-	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T
SEC16B	89866	genome.wustl.edu	37	1	177911145	177911145	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:177911145C>A	ENST00000308284.6	-	16	2001	c.1912G>T	c.(1912-1914)Gca>Tca	p.A638S	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	638					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCATAATCTGCCAGACGGGAA	0.498																																																	0													66.0	64.0	65.0					1																	177911145		1954	4141	6095	SO:0001583	missense	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1912G>T	1.37:g.177911145C>A	ENSP00000308339:p.Ala638Ser		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	NULL	p.A638S	ENST00000308284.6	37	c.1912	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380693	0.82792	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.26810	1.71	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000002	T	0.50326	0.1609	M	0.67517	2.055	0.80722	D	1	D;D;P;D	0.76494	0.999;0.996;0.942;0.993	D;D;P;D	0.76575	0.988;0.953;0.829;0.931	T	0.45920	-0.9228	10	0.56958	D	0.05	-14.6468	16.6607	0.85240	0.0:1.0:0.0:0.0	.	193;639;638;335	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	S	638;322;353	ENSP00000308339:A638S	ENSP00000239472:A353S	A	-	1	0	AL359075.1	176177768	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.279000	0.43435	2.669000	0.90835	0.655000	0.94253	GCA	SEC16B	-	NULL	ENSG00000120341		0.498	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16	-	0.00	78	0	C	NM_033127		177911145	-1	tier1	-	no_errors	ENST00000308284	ensembl	human	known	74_37	missense	27.59	63	24	SNP	1.000	A
SEC61A1	29927	genome.wustl.edu	37	3	127788479	127788479	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:127788479G>A	ENST00000243253.3	+	12	1589	c.1405G>A	c.(1405-1407)Ggc>Agc	p.G469S	SEC61A1_ENST00000464451.1_Missense_Mutation_p.G475S|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Missense_Mutation_p.G349S	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	469					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AAGCGAGGTTGGCAGCATGGG	0.587																																																	0													90.0	98.0	95.0					3																	127788479		2203	4300	6503	SO:0001583	missense	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1405G>A	3.37:g.127788479G>A	ENSP00000243253:p.Gly469Ser		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.G469S	ENST00000243253.3	37	c.1405	CCDS3046.1	3	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834020	0.71373	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.96	4.19	0.49359	.	0.093846	0.64402	N	0.000001	T	0.67627	0.2913	M	0.64567	1.98	0.80722	D	1	P	0.48911	0.917	P	0.56434	0.798	T	0.68985	-0.5265	9	0.59425	D	0.04	.	12.6812	0.56922	0.1329:0.0:0.8671:0.0	.	469	P61619	S61A1_HUMAN	S	475;469;349	.	ENSP00000243253:G469S	G	+	1	0	SEC61A1	129271169	1.000000	0.71417	0.853000	0.33588	0.002000	0.02628	9.869000	0.99810	0.875000	0.35847	-0.145000	0.13849	GGC	SEC61A1	-	pirsf_SecY/SEC61-alpha	ENSG00000058262		0.587	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2	-	0.00	54	0	G	NM_013336		127788479	+1	tier1	-	no_errors	ENST00000243253	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.998	A
SERINC4	619189	genome.wustl.edu	37	15	44087925	44087925	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:44087925G>A	ENST00000319327.6	-	10	1384	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Silent_p.L140L|SERF2_ENST00000409291.1_Intron|MIR1282_ENST00000408865.1_RNA|RP11-296A16.1_ENST00000417761.2_3'UTR|SERINC4_ENST00000299969.6_Silent_p.H309H|HYPK_ENST00000406925.1_5'Flank	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	384					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGAAACACAGTGAGGGCTTC	0.468																																																	0													106.0	102.0	103.0					15																	44087925		2198	4298	6496	SO:0001819	synonymous_variant	0			DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1150C>T	15.37:g.44087925G>A			B2RN41|Q3YL75	Silent	SNP	pfam_TMS_TDE	p.L140	ENST00000319327.6	37	c.418	CCDS58360.1	15																																																																																			SERINC4	-	pfam_TMS_TDE	ENSG00000184716		0.468	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SERINC4	HGNC	protein_coding	OTTHUMT00000133485.2		0.00	17	0	G			44087925	-1			no_errors	ENST00000249714	ensembl	human	known	74_37	silent	43.75	9	7	SNP	0.875	A
LOC101928517	101928517	genome.wustl.edu	37	19	51671595	51671595	+	RNA	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:51671595C>T	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							GGTGTGACCACGGAGAGAACC	0.617																																																	0																																												0																															19.37:g.51671595C>T				RNA	SNP	-	NULL	ENST00000600074.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	12.48	1.951496	0.34471	.	.	ENSG00000171101	ENST00000305812;ENST00000341811	.	.	.	3.26	-4.43	0.03568	.	2.375910	0.02246	U	0.066227	T	0.57844	0.2081	.	.	.	.	.	.	D;D	0.64830	0.994;0.97	P;P	0.59595	0.86;0.713	T	0.59573	-0.7429	7	0.38643	T	0.18	.	10.5833	0.45267	0.0:0.7283:0.0:0.2717	.	199;225	B4DW22;Q9P0F8	.;.	M	224;199	.	ENSP00000303760:T224M	T	+	2	0	AC063977.1	56363407	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.608000	0.05641	-0.962000	0.03604	0.454000	0.30748	ACG	SIGLEC17P	-	-	ENSG00000171101		0.617	CTD-3187F8.14-001	KNOWN	basic	antisense	SIGLEC17P	HGNC	antisense	OTTHUMT00000465635.1	-	0.00	59	0	C			51671595	+1	tier1	-	no_errors	ENST00000341811	ensembl	human	known	74_37	rna	19.35	50	12	SNP	0.000	T
SIGLEC22P	114195	genome.wustl.edu	37	19	51714747	51714747	+	RNA	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:51714747C>A	ENST00000602065.1	+	0	350									sialic acid binding Ig-like lectin 22, pseudogene																		GCATCGTAGACGCCAGGAGGA	0.507																																																	0																																												0					19q13.41	2014-03-20	2010-02-04	2010-02-04	ENSG00000268849	ENSG00000268849		"""Sialic acid binding Ig-like lectins"""	15611	pseudogene	pseudogene			"""sialic acid binding Ig-like lectin, pseudogene 6"""	SIGLECP6		11546777	Standard	NG_004737		Approved				OTTHUMG00000183132		19.37:g.51714747C>A				RNA	SNP	-	NULL	ENST00000602065.1	37	NULL		19																																																																																			SIGLEC22P	-	-	ENSG00000268849		0.507	SIGLEC22P-001	KNOWN	basic	processed_transcript	SIGLEC22P	HGNC	pseudogene	OTTHUMT00000465192.1	-	0.00	81	0	C	NG_004737		51714747	+1	tier1	-	no_errors	ENST00000602065	ensembl	human	known	74_37	rna	31.43	24	11	SNP	0.000	A
SIK2	23235	genome.wustl.edu	37	11	111594680	111594680	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:111594680G>T	ENST00000304987.3	+	15	2781	c.2608G>T	c.(2608-2610)Gat>Tat	p.D870Y		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	870					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATCCTGTGGATGGAGCCCA	0.617																																																	0													50.0	52.0	51.0					11																	111594680		2201	4297	6498	SO:0001583	missense	0			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2608G>T	11.37:g.111594680G>T	ENSP00000305976:p.Asp870Tyr		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D870Y	ENST00000304987.3	37	c.2608	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	7.727	0.698399	0.15106	.	.	ENSG00000170145	ENST00000304987	T	0.76578	-1.03	5.13	4.2	0.49525	.	0.104155	0.64402	D	0.000005	T	0.69744	0.3145	L	0.54323	1.7	0.51012	D	0.999902	B	0.09022	0.002	B	0.08055	0.003	T	0.67669	-0.5611	10	0.62326	D	0.03	.	6.362	0.21433	0.0905:0.0:0.7258:0.1837	.	870	Q9H0K1	SIK2_HUMAN	Y	870	ENSP00000305976:D870Y	ENSP00000305976:D870Y	D	+	1	0	SIK2	111099890	1.000000	0.71417	0.630000	0.29268	0.015000	0.08874	2.329000	0.43876	1.361000	0.45981	0.655000	0.94253	GAT	SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000170145		0.617	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3		0.00	64	0	G	NM_015191		111594680	+1			no_errors	ENST00000304987	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
SIMC1	375484	genome.wustl.edu	37	5	175740726	175740726	+	Silent	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:175740726G>T	ENST00000443967.1	+	7	2117	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	SIMC1_ENST00000332772.4_Silent_p.L31L|SIMC1_ENST00000341199.6_Silent_p.L155L|SIMC1_ENST00000430704.2_Silent_p.L155L			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	570							SUMO polymer binding (GO:0032184)										TCCTTTTCCTGCGTTATGTCG	0.502																																																	0													196.0	203.0	201.0					5																	175740726		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1710G>T	5.37:g.175740726G>T			J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	NULL	p.L570	ENST00000443967.1	37	c.1710		5																																																																																			SIMC1	-	NULL	ENSG00000170085		0.502	SIMC1-001	KNOWN	basic	protein_coding	SIMC1	HGNC	protein_coding	OTTHUMT00000253155.2		0.00	57	0	G	NM_198567		175740726	+1			no_errors	ENST00000443967	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.998	T
SLC17A4	10050	genome.wustl.edu	37	6	25777055	25777055	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:25777055C>T	ENST00000377905.4	+	10	1255	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	SLC17A4_ENST00000397076.2_Missense_Mutation_p.S177F|SLC17A4_ENST00000439485.2_Missense_Mutation_p.S149F	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	379					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCTTCCCATCCGTGATCCTC	0.557																																																	0													187.0	148.0	161.0					6																	25777055		2203	4300	6503	SO:0001583	missense	0			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1136C>T	6.37:g.25777055C>T	ENSP00000367137:p.Ser379Phe		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S379F	ENST00000377905.4	37	c.1136	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031073	0.75504	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.60672	0.32;0.41;0.17	5.62	2.79	0.32731	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.580980	0.15678	N	0.250079	T	0.61248	0.2332	M	0.77820	2.39	0.09310	N	1	D;D;P	0.71674	0.984;0.998;0.956	D;D;D	0.72075	0.923;0.976;0.928	T	0.54430	-0.8295	10	0.87932	D	0	.	7.9996	0.30288	0.0:0.6118:0.3053:0.083	.	149;177;379	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	F	379;149;177	ENSP00000367137:S379F;ENSP00000391345:S149F;ENSP00000380266:S177F	ENSP00000367137:S379F	S	+	2	0	SLC17A4	25885034	0.000000	0.05858	0.000000	0.03702	0.590000	0.36582	0.795000	0.26972	0.370000	0.24538	0.650000	0.86243	TCC	SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146039		0.557	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	-	0.00	54	0	C			25777055	+1	tier1	-	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.002	T
SLC17A9	63910	genome.wustl.edu	37	20	61588799	61588799	+	Silent	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:61588799G>T	ENST00000370351.4	+	3	395	c.264G>T	c.(262-264)ggG>ggT	p.G88G	SLC17A9_ENST00000370349.3_Silent_p.G82G|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	88					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCAGGATTGGGGGTGAGAAGG	0.642																																																	0													73.0	81.0	78.0					20																	61588799		2177	4260	6437	SO:0001819	synonymous_variant	0			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.264G>T	20.37:g.61588799G>T			B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G88	ENST00000370351.4	37	c.264	CCDS42901.1	20																																																																																			SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000101194		0.642	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	-	0.00	19	0	G	NM_022082		61588799	+1	tier1	-	no_errors	ENST00000370351	ensembl	human	known	74_37	silent	50.00	12	12	SNP	0.983	T
SLC17A9	63910	genome.wustl.edu	37	20	61588815	61588815	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:61588815C>G	ENST00000370351.4	+	3	411	c.280C>G	c.(280-282)Ctg>Gtg	p.L94V	SLC17A9_ENST00000370349.3_Missense_Mutation_p.L88V|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	94					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAAGGTCATCCTGCTGTCAGC	0.637																																																	0													77.0	85.0	82.0					20																	61588815		2177	4257	6434	SO:0001583	missense	0			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.280C>G	20.37:g.61588815C>G	ENSP00000359376:p.Leu94Val		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L94V	ENST00000370351.4	37	c.280	CCDS42901.1	20	.	.	.	.	.	.	.	.	.	.	C	9.518	1.107411	0.20714	.	.	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.59502	0.26;0.26;0.26	4.57	-2.47	0.06442	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.294682	0.32608	N	0.005867	T	0.43986	0.1272	M	0.65975	2.015	0.49582	D	0.999806	B;B;B	0.12630	0.006;0.002;0.006	B;B;B	0.21151	0.033;0.021;0.012	T	0.09250	-1.0683	10	0.31617	T	0.26	.	1.7721	0.03014	0.1265:0.3771:0.1235:0.373	.	114;94;88	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	V	94;88;114	ENSP00000359376:L94V;ENSP00000359374:L88V;ENSP00000388215:L114V	ENSP00000359374:L88V	L	+	1	2	SLC17A9	61059260	0.934000	0.31675	0.970000	0.41538	0.516000	0.34256	0.124000	0.15728	-0.505000	0.06568	-2.070000	0.00385	CTG	SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000101194		0.637	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	-	0.00	20	0	C	NM_022082		61588815	+1	tier1	-	no_errors	ENST00000370351	ensembl	human	known	74_37	missense	53.85	12	14	SNP	0.994	G
SLC26A8	116369	genome.wustl.edu	37	6	35923059	35923059	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:35923059G>A	ENST00000490799.1	-	17	2455	c.2102C>T	c.(2101-2103)gCg>gTg	p.A701V	SLC26A8_ENST00000394602.2_Missense_Mutation_p.A596V|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A701V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGCTTTCCGCCACATCAGG	0.502																																																	0													171.0	164.0	166.0					6																	35923059		2203	4300	6503	SO:0001583	missense	0			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2102C>T	6.37:g.35923059G>A	ENSP00000417638:p.Ala701Val			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.A701V	ENST00000490799.1	37	c.2102	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736714	0.30774	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95205	-3.31;-3.64;-3.31	4.25	-2.79	0.05841	Sulphate transporter/antisigma-factor antagonist STAS (3);	3.220400	0.00604	N	0.000383	D	0.82268	0.5000	L	0.42245	1.32	0.09310	N	1	P;D;D	0.57899	0.919;0.981;0.958	B;B;B	0.41412	0.278;0.356;0.281	T	0.76929	-0.2777	10	0.49607	T	0.09	.	0.6772	0.00869	0.1896:0.2875:0.2307:0.2921	.	701;596;283	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	701;596;701	ENSP00000417638:A701V;ENSP00000378100:A596V;ENSP00000347778:A701V	ENSP00000347778:A701V	A	-	2	0	SLC26A8	36031037	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.722000	0.04958	-0.350000	0.08262	-1.130000	0.01982	GCG	SLC26A8	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	ENSG00000112053		0.502	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	-	0.00	63	0	G			35923059	-1	tier1	-	no_errors	ENST00000355574	ensembl	human	known	74_37	missense	7.25	64	5	SNP	0.000	A
SLC7A1	6541	genome.wustl.edu	37	13	30088667	30088667	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:30088667C>A	ENST00000380752.5	-	13	2226	c.1840G>T	c.(1840-1842)Gat>Tat	p.D614Y	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	614					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGGTCGGCATCCAGGGACGCC	0.667																																																	0													57.0	45.0	49.0					13																	30088667		2203	4300	6503	SO:0001583	missense	0			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1840G>T	13.37:g.30088667C>A	ENSP00000370128:p.Asp614Tyr		Q5JR50	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.D614Y	ENST00000380752.5	37	c.1840	CCDS9333.1	13	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231447	0.39399	.	.	ENSG00000139514	ENST00000380752	D	0.86366	-2.11	4.27	4.27	0.50696	.	0.816587	0.11212	N	0.587646	D	0.82986	0.5156	L	0.47716	1.5	0.25267	N	0.989546	B	0.11235	0.004	B	0.08055	0.003	T	0.74051	-0.3789	10	0.66056	D	0.02	.	9.9362	0.41552	0.0:0.9063:0.0:0.0937	.	614	P30825	CTR1_HUMAN	Y	614	ENSP00000370128:D614Y	ENSP00000370128:D614Y	D	-	1	0	SLC7A1	28986667	.	.	0.958000	0.39756	0.768000	0.43524	.	.	2.387000	0.81309	0.561000	0.74099	GAT	SLC7A1	-	NULL	ENSG00000139514		0.667	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	-	0.00	65	0	C	NM_003045		30088667	-1	tier1	-	no_errors	ENST00000380752	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.899	A
SLC7A14	57709	genome.wustl.edu	37	3	170204024	170204024	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:170204024G>T	ENST00000231706.5	-	5	1208	c.893C>A	c.(892-894)aCa>aAa	p.T298K	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	298					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.T298R(1)		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)			CACATATGCTGTCAGGCAGAT	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											255.0	188.0	211.0					3																	170204024		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.893C>A	3.37:g.170204024G>T	ENSP00000231706:p.Thr298Lys		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.T298K	ENST00000231706.5	37	c.893	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474828	0.84640	.	.	ENSG00000013293	ENST00000231706	D	0.89939	-2.59	5.95	5.08	0.68730	Amino acid permease domain (1);	0.042850	0.85682	D	0.000000	D	0.92420	0.7594	L	0.49640	1.575	0.58432	D	0.999999	D	0.76494	0.999	D	0.72338	0.977	D	0.93028	0.6446	10	0.66056	D	0.02	.	15.2667	0.73666	0.0673:0.0:0.9327:0.0	.	298	Q8TBB6	S7A14_HUMAN	K	298	ENSP00000231706:T298K	ENSP00000231706:T298K	T	-	2	0	SLC7A14	171686718	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.587000	0.82613	1.526000	0.49068	0.563000	0.77884	ACA	SLC7A14	-	pfam_AA-permease/SLC12A_dom	ENSG00000013293		0.532	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2		0.00	46	0	G	NM_020949		170204024	-1			no_errors	ENST00000231706	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T
SLCO5A1	81796	genome.wustl.edu	37	8	70585409	70585409	+	Missense_Mutation	SNP	C	C	T	rs376766213		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:70585409C>T	ENST00000260126.4	-	10	2948	c.2242G>A	c.(2242-2244)Gtt>Att	p.V748I	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V693I|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	748						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATAAACCCAACGAATTTGAGG	0.493																																																	0													88.0	91.0	90.0					8																	70585409		2203	4300	6503	SO:0001583	missense	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2242G>A	8.37:g.70585409C>T	ENSP00000260126:p.Val748Ile		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.V748I	ENST00000260126.4	37	c.2242	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836603	0.32421	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.80480	-1.38;-1.38	5.93	2.96	0.34315	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.208186	0.40144	N	0.001166	T	0.68595	0.3018	L	0.48642	1.525	0.38278	D	0.942349	B;B	0.32918	0.291;0.39	B;B	0.24394	0.015;0.053	T	0.64158	-0.6473	10	0.19590	T	0.45	.	10.1775	0.42948	0.2524:0.5012:0.2464:0.0	.	693;748	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	I	748;693	ENSP00000260126:V748I;ENSP00000431611:V693I	ENSP00000260126:V748I	V	-	1	0	SLCO5A1	70747963	0.930000	0.31532	0.473000	0.27253	0.852000	0.48524	1.867000	0.39499	0.820000	0.34516	-0.175000	0.13238	GTT	SLCO5A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000137571		0.493	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	-	0.00	40	0	C	NM_030958		70585409	-1	tier1	-	no_errors	ENST00000260126	ensembl	human	known	74_37	missense	25.00	30	10	SNP	0.984	T
SLITRK1	114798	genome.wustl.edu	37	13	84455420	84455420	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:84455420G>A	ENST00000377084.2	-	1	1108	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	75					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACTCATTAGGGAAAAGTCGA	0.463																																																	0													67.0	69.0	68.0					13																	84455420		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.223C>T	13.37:g.84455420G>A	ENSP00000366288:p.Pro75Ser		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P75S	ENST00000377084.2	37	c.223	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442766	0.43326	.	.	ENSG00000178235	ENST00000377084	T	0.59083	0.29	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.49350	1.555	0.58432	D	0.999999	B	0.28900	0.227	B	0.27715	0.082	T	0.54456	-0.8291	10	0.44086	T	0.13	-5.6919	16.5743	0.84633	0.0:0.0:1.0:0.0	.	75	Q96PX8	SLIK1_HUMAN	S	75	ENSP00000366288:P75S	ENSP00000366288:P75S	P	-	1	0	SLITRK1	83353421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.477000	0.83638	0.561000	0.74099	CCT	SLITRK1	-	NULL	ENSG00000178235		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1		0.00	49	0	G	NM_052910		84455420	-1			no_errors	ENST00000377084	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	A
SMO	6608	genome.wustl.edu	37	7	128845112	128845112	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:128845112C>A	ENST00000249373.3	+	3	886	c.606C>A	c.(604-606)aaC>aaA	p.N202K		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	202					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GGACAGACAACCCCAAGAGCT	0.577			Mis		skin basal cell																																			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													87.0	76.0	80.0					7																	128845112		2203	4300	6503	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.606C>A	7.37:g.128845112C>A	ENSP00000249373:p.Asn202Lys		A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.N202K	ENST00000249373.3	37	c.606	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389347	0.61956	.	.	ENSG00000128602	ENST00000249373	T	0.78481	-1.18	5.75	5.75	0.90469	.	0.085210	0.85682	D	0.000000	T	0.80428	0.4621	L	0.58810	1.83	0.58432	D	0.999998	D	0.54207	0.965	P	0.47827	0.558	T	0.80402	-0.1397	10	0.45353	T	0.12	.	18.9302	0.92561	0.0:1.0:0.0:0.0	.	202	Q99835	SMO_HUMAN	K	202	ENSP00000249373:N202K	ENSP00000249373:N202K	N	+	3	2	SMO	128632348	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.546000	0.45778	2.720000	0.93068	0.555000	0.69702	AAC	SMO	-	NULL	ENSG00000128602		0.577	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	-	0.00	54	0	C	NM_005631		128845112	+1	tier1	-	no_errors	ENST00000249373	ensembl	human	known	74_37	missense	16.92	54	11	SNP	1.000	A
SNTG2	54221	genome.wustl.edu	37	2	1271152	1271152	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:1271152G>T	ENST00000308624.5	+	14	1222	c.1093G>T	c.(1093-1095)Gac>Tac	p.D365Y	SNTG2_ENST00000407292.1_Missense_Mutation_p.D238Y	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	365	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTCACAGAGGACTGCTGGTT	0.542																																																	0													58.0	55.0	56.0					2																	1271152		1952	4173	6125	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1093G>T	2.37:g.1271152G>T	ENSP00000311837:p.Asp365Tyr		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D365Y	ENST00000308624.5	37	c.1093	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976804	0.53720	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.70164	1.11;-0.46	4.6	3.7	0.42460	Pleckstrin homology domain (1);	0.115582	0.56097	D	0.000022	T	0.74007	0.3660	L	0.56769	1.78	0.46096	D	0.998866	D;D	0.69078	0.997;0.994	P;P	0.60415	0.874;0.751	T	0.75187	-0.3406	10	0.66056	D	0.02	.	11.3616	0.49646	0.0924:0.0:0.9076:0.0	.	238;365	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	Y	365;238	ENSP00000311837:D365Y;ENSP00000385020:D238Y	ENSP00000311837:D365Y	D	+	1	0	SNTG2	1253733	1.000000	0.71417	0.921000	0.36526	0.561000	0.35649	5.778000	0.68940	0.861000	0.35504	0.643000	0.83706	GAC	SNTG2	-	NULL	ENSG00000172554		0.542	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0.00	57	0	G	NM_018968		1271152	+1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131339485	131339485	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:131339485C>G	ENST00000372731.4	+	7	973	c.863C>G	c.(862-864)gCa>gGa	p.A288G	SPTAN1_ENST00000372739.3_Missense_Mutation_p.A288G|SPTAN1_ENST00000358161.5_Missense_Mutation_p.A288G	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	288					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CGAGACCTGGCAAGTGTTCAG	0.468																																					NSCLC(120;833 1744 2558 35612 37579)												0													137.0	141.0	140.0					9																	131339485		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.863C>G	9.37:g.131339485C>G	ENSP00000361816:p.Ala288Gly		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.A288G	ENST00000372731.4	37	c.863	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974414	0.92919	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51325	0.71;0.71;0.71	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	L	0.39898	1.24	0.80722	D	1	P;B;B;B;B	0.40398	0.716;0.098;0.235;0.405;0.392	B;B;B;B;B	0.43701	0.376;0.117;0.203;0.428;0.238	T	0.27365	-1.0076	10	0.36615	T	0.2	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	288;288;288;288;288	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	G	288	ENSP00000350882:A288G;ENSP00000361816:A288G;ENSP00000361824:A288G	ENSP00000350882:A288G	A	+	2	0	SPTAN1	130379306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCA	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0.00	88	0	C	NM_003127		131339485	+1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	G
STAM	8027	genome.wustl.edu	37	10	17750914	17750914	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:17750914C>T	ENST00000377524.3	+	13	1564	c.1349C>T	c.(1348-1350)gCc>gTc	p.A450V	STAM_ENST00000540523.1_Missense_Mutation_p.A339V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	450					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAAACCCAGCCCTTCCTAGT	0.542																																																	0													87.0	86.0	86.0					10																	17750914		2203	4300	6503	SO:0001583	missense	0			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1349C>T	10.37:g.17750914C>T	ENSP00000366746:p.Ala450Val		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.A450V	ENST00000377524.3	37	c.1349	CCDS7122.1	10	.	.	.	.	.	.	.	.	.	.	C	13.03	2.113969	0.37339	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.39997	1.34;1.05	5.68	4.77	0.60923	.	0.708493	0.14059	N	0.344213	T	0.19087	0.0458	N	0.12182	0.205	0.28924	N	0.891955	B;B	0.21071	0.051;0.001	B;B	0.14023	0.01;0.001	T	0.23154	-1.0196	10	0.10902	T	0.67	-12.8049	2.5727	0.04798	0.1534:0.5341:0.1482:0.1643	.	339;450	B4DZT2;Q92783	.;STAM1_HUMAN	V	450;339	ENSP00000366746:A450V;ENSP00000438073:A339V	ENSP00000366746:A450V	A	+	2	0	STAM	17790920	0.993000	0.37304	0.886000	0.34754	0.953000	0.61014	1.637000	0.37155	1.386000	0.46466	0.591000	0.81541	GCC	STAM	-	NULL	ENSG00000136738		0.542	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1		0.00	32	0	C	NM_003473		17750914	+1			no_errors	ENST00000377524	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.602	T
SUV420H1	51111	genome.wustl.edu	37	11	67939153	67939153	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:67939153A>T	ENST00000304363.4	-	7	1030	c.677T>A	c.(676-678)tTa>tAa	p.L226*	SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.L226*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.L226*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.L203*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.L226*	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	226	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACCCACCAGTAATTCTATTTT	0.313																																																	0													94.0	92.0	93.0					11																	67939153		2200	4294	6494	SO:0001587	stop_gained	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.677T>A	11.37:g.67939153A>T	ENSP00000305899:p.Leu226*		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Nonsense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L226*	ENST00000304363.4	37	c.677	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	A	29.2	4.983531	0.93044	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	.	.	.	5.73	5.73	0.89815	.	0.223506	0.38164	N	0.001784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.287	16.3197	0.82945	1.0:0.0:0.0:0.0	.	.	.	.	X	226;226;226;226;203;54	.	ENSP00000305899:L226X	L	-	2	0	SUV420H1	67695729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.321000	0.65846	2.302000	0.77476	0.533000	0.62120	TTA	SUV420H1	-	smart_SET_dom	ENSG00000110066		0.313	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	-	0.00	88	0	A	NM_017635		67939153	-1	tier1	-	no_errors	ENST00000304363	ensembl	human	known	74_37	nonsense	53.16	37	42	SNP	1.000	T
SV2A	9900	genome.wustl.edu	37	1	149882465	149882465	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:149882465C>G	ENST00000369146.3	-	4	1358	c.868G>C	c.(868-870)Ggg>Cgg	p.G290R	SV2A_ENST00000369145.1_Missense_Mutation_p.G290R	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	290					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AAATGCTCCCCTCGTTTCTCC	0.527																																																	0													61.0	59.0	59.0					1																	149882465		2203	4300	6503	SO:0001583	missense	0			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.868G>C	1.37:g.149882465C>G	ENSP00000358142:p.Gly290Arg		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.G290R	ENST00000369146.3	37	c.868	CCDS940.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928184	0.92389	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	D;D	0.81739	-1.53;-1.53	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	H	0.96970	3.915	0.80722	D	1	D	0.56287	0.975	P	0.61940	0.896	D	0.93763	0.7068	10	0.72032	D	0.01	-22.4325	15.8174	0.78615	0.0:1.0:0.0:0.0	.	290	Q7L0J3	SV2A_HUMAN	R	290	ENSP00000358142:G290R;ENSP00000358141:G290R	ENSP00000358141:G290R	G	-	1	0	SV2A	148149089	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.651000	0.83577	2.591000	0.87537	0.585000	0.79938	GGG	SV2A	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	ENSG00000159164		0.527	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	HGNC	protein_coding	OTTHUMT00000033754.1		0.00	61	0	C			149882465	-1			no_errors	ENST00000369146	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	G
SYCP1	6847	genome.wustl.edu	37	1	115438067	115438067	+	Splice_Site	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:115438067A>G	ENST00000369522.3	+	16	1498		c.e16-1		SYCP1_ENST00000369518.1_Splice_Site	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTCATTTTAGAAGAGATGA	0.294																																																	0													23.0	22.0	22.0					1																	115438067		2150	4252	6402	SO:0001630	splice_region_variant	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1259-1A>G	1.37:g.115438067A>G			O14963|Q5VXJ6	Splice_Site	SNP	-	e15-2	ENST00000369522.3	37	c.1259-2	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608792	0.66558	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2629	0.49093	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYCP1	115239590	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.552000	0.60747	1.983000	0.57843	0.528000	0.53228	.	SYCP1	-	-	ENSG00000198765		0.294	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	-	0.00	85	0	A	NM_003176	Intron	115438067	+1	tier1	-	no_errors	ENST00000369518	ensembl	human	known	74_37	splice_site	5.26	72	4	SNP	1.000	G
SWT1	54823	genome.wustl.edu	37	1	185183639	185183639	+	Splice_Site	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:185183639C>A	ENST00000367500.4	+	14	2138	c.1973C>A	c.(1972-1974)gCt>gAt	p.A658D	SWT1_ENST00000367501.3_Splice_Site_p.A658D	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	658										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTGTTACCAGCTAATAAGGCA	0.289																																																	0													73.0	76.0	75.0					1																	185183639		2203	4300	6503	SO:0001630	splice_region_variant	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1973-1C>A	1.37:g.185183639C>A			Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PIN_dom	p.A658D	ENST00000367500.4	37	c.1973	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599607	0.28534	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19105	2.17;2.17	5.07	5.07	0.68467	.	0.482973	0.21628	N	0.071537	T	0.23727	0.0574	M	0.63428	1.95	0.38441	D	0.946694	B	0.21821	0.061	B	0.19666	0.026	T	0.03807	-1.1002	9	.	.	.	.	13.9938	0.64382	0.0:0.8479:0.1521:0.0	.	658	Q5T5J6	SWT1_HUMAN	D	658	ENSP00000356471:A658D;ENSP00000356470:A658D	.	A	+	2	0	SWT1	183450262	1.000000	0.71417	0.959000	0.39883	0.448000	0.32197	1.050000	0.30404	2.736000	0.93811	0.655000	0.94253	GCT	SWT1	-	NULL	ENSG00000116668		0.289	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	-	0.00	55	0	C	NM_017673	Missense_Mutation	185183639	+1	tier1	-	no_errors	ENST00000367500	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A
TTC23	64927	genome.wustl.edu	37	15	99675526	99675526	+	IGR	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:99675526C>G	ENST00000394132.2	-	0	3849				SYNM_ENST00000328642.7_3'UTR|SYNM_ENST00000560674.1_3'UTR|SYNM_ENST00000336292.6_3'UTR|SYNM_ENST00000561323.1_3'UTR			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23											endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AGCTCCATGTCCTTTAAAATC	0.433																																																	0																																										SO:0001628	intergenic_variant	0				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344		15.37:g.99675526C>G			A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	RNA	SNP	-	NULL	ENST00000394132.2	37	NULL	CCDS10379.2	15																																																																																			SYNM	-	-	ENSG00000182253		0.433	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000303953.2	-	0.00	100	0	C	NM_022905		99675526	+1	tier1	-	no_errors	ENST00000558420	ensembl	human	known	74_37	rna	33.73	55	28	SNP	0.001	G
TACC2	10579	genome.wustl.edu	37	10	123845396	123845396	+	Silent	SNP	C	C	T	rs140254775		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:123845396C>T	ENST00000369005.1	+	4	3721	c.3381C>T	c.(3379-3381)gcC>gcT	p.A1127A	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.A1127A|TACC2_ENST00000334433.3_Silent_p.A1127A|TACC2_ENST00000515273.1_Silent_p.A1127A|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.A1127A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1127					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGGTGAAGCCGGGGCTGCTG	0.602																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	41.0	44.0	43.0		,3381	-9.8	0.0	10	dbSNP_134	43	0,8600		0,0,4300	no	intron,coding-synonymous	TACC2	NM_206861.1,NM_206862.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,1127/2949	123845396	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3381C>T	10.37:g.123845396C>T			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.A1127	ENST00000369005.1	37	c.3381	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	-	0.00	132	0	C			123845396	+1	tier1	rs140254775	no_errors	ENST00000334433	ensembl	human	known	74_37	silent	14.00	86	14	SNP	0.000	T
TAOK1	57551	genome.wustl.edu	37	17	27822698	27822698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27822698C>T	ENST00000261716.3	+	11	1471	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.Q318*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	318					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.Q318*(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACTCCTTTTCCAGGAGGCACA	0.408																																																	4	Substitution - Nonsense(4)	lung(4)											89.0	82.0	84.0					17																	27822698		2203	4300	6503	SO:0001587	stop_gained	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.952C>T	17.37:g.27822698C>T	ENSP00000261716:p.Gln318*		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q318*	ENST00000261716.3	37	c.952	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.699256	0.99241	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	.	.	.	5.21	5.21	0.72293	.	0.055003	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.1313	0.93408	0.0:1.0:0.0:0.0	.	.	.	.	X	318	.	ENSP00000261716:Q318X	Q	+	1	0	TAOK1	24846824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.659000	0.83766	2.595000	0.87683	0.557000	0.71058	CAG	TAOK1	-	superfamily_Kinase-like_dom	ENSG00000160551		0.408	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	-	0.00	58	0	C	NM_020791		27822698	+1	tier1	-	no_errors	ENST00000261716	ensembl	human	known	74_37	nonsense	28.00	36	14	SNP	1.000	T
TAP2	6891	genome.wustl.edu	37	6	32797731	32797731	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:32797731C>T	ENST00000452392.2	-	10	1944	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	TAP2_ENST00000374897.2_Missense_Mutation_p.E591K|TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Missense_Mutation_p.E591K			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	TGCTCCATTTCCTGGATGAAG	0.468																																																	0													150.0	160.0	157.0					6																	32797731		1511	2709	4220	SO:0001583	missense	0			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1771G>A	6.37:g.32797731C>T	ENSP00000391806:p.Glu591Lys		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2	p.E591K	ENST00000452392.2	37	c.1771		6	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742838	0.69418	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.93307	-3.2;-3.2;-3.2	5.29	2.09	0.27110	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.607232	0.14659	N	0.306044	T	0.75591	0.3870	N	0.01076	-1.035	0.28639	N	0.907242	B;P;P;P	0.51653	0.392;0.947;0.947;0.947	B;P;P;P	0.54270	0.262;0.747;0.747;0.747	T	0.73212	-0.4054	9	0.17369	T	0.5	-53.7861	9.5986	0.39589	0.0:0.7201:0.0:0.2799	.	591;592;591;591	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	K	591	ENSP00000364034:E591K;ENSP00000364032:E591K;ENSP00000391806:E591K	ENSP00000364032:E591K	E	-	1	0	XXbac-BPG246D15.9;TAP2	32905709	0.002000	0.14202	0.006000	0.13384	0.461000	0.32589	0.746000	0.26275	0.616000	0.30141	-0.375000	0.07067	GAA	TAP2	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2	ENSG00000204267		0.468	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	TAP2	HGNC	protein_coding	OTTHUMT00000361828.1	-	0.00	60	0	C	NM_000544		32797731	-1	tier1	-	no_errors	ENST00000374897	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.015	T
TAS1R2	80834	genome.wustl.edu	37	1	19180780	19180780	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:19180780A>G	ENST00000375371.3	-	3	1205	c.1184T>C	c.(1183-1185)gTg>gCg	p.V395A	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	395					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCATGGGCCACAGCATAGAC	0.602																																																	0													96.0	85.0	88.0					1																	19180780		2203	4300	6503	SO:0001583	missense	0				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1184T>C	1.37:g.19180780A>G	ENSP00000364520:p.Val395Ala		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.V395A	ENST00000375371.3	37	c.1184	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373918	0.42105	.	.	ENSG00000179002	ENST00000375371	D	0.83506	-1.73	4.41	3.27	0.37495	Extracellular ligand-binding receptor (1);	0.000000	0.36555	N	0.002531	D	0.86209	0.5878	L	0.52905	1.665	0.40582	D	0.981401	D	0.67145	0.996	D	0.67548	0.952	D	0.85379	0.1118	10	0.66056	D	0.02	.	8.1188	0.30959	0.9015:0.0:0.0985:0.0	.	395	Q8TE23	TS1R2_HUMAN	A	395	ENSP00000364520:V395A	ENSP00000364520:V395A	V	-	2	0	TAS1R2	19053367	1.000000	0.71417	0.999000	0.59377	0.114000	0.19823	8.502000	0.90505	0.724000	0.32296	0.379000	0.24179	GTG	TAS1R2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179002		0.602	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	-	0.00	32	0	A			19180780	-1	tier1	-	no_errors	ENST00000375371	ensembl	human	novel	74_37	missense	7.58	61	5	SNP	0.998	G
TBPL1	9519	genome.wustl.edu	37	6	134305574	134305574	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:134305574A>G	ENST00000237264.4	+	5	618	c.343A>G	c.(343-345)Atc>Gtc	p.I115V	TBPL1_ENST00000367871.1_Missense_Mutation_p.I115V|TBPL1_ENST00000477527.1_Intron	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	115					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		GCCATTTGAAATCCGTTTGCC	0.313																																																	0													68.0	66.0	67.0					6																	134305574		2203	4300	6503	SO:0001583	missense	0			AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.343A>G	6.37:g.134305574A>G	ENSP00000237264:p.Ile115Val		A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.I115V	ENST00000237264.4	37	c.343	CCDS5168.1	6	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533365	0.64972	.	.	ENSG00000028839	ENST00000416965;ENST00000367871;ENST00000237264	.	.	.	5.93	5.93	0.95920	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.64997	1.995	0.80722	D	1	B	0.27229	0.172	B	0.33620	0.167	T	0.60229	-0.7304	9	0.72032	D	0.01	-7.5412	15.6133	0.76744	1.0:0.0:0.0:0.0	.	115	P62380	TBPL1_HUMAN	V	115	.	ENSP00000237264:I115V	I	+	1	0	TBPL1	134347267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.156000	0.77453	2.281000	0.76405	0.529000	0.55759	ATC	TBPL1	-	pfam_TBP,prints_TBP	ENSG00000028839		0.313	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL1	HGNC	protein_coding	OTTHUMT00000042294.2	-	0.00	180	0	A			134305574	+1	tier1	-	no_errors	ENST00000237264	ensembl	human	known	74_37	missense	8.54	182	17	SNP	1.000	G
TCEA1	6917	genome.wustl.edu	37	8	54891668	54891668	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:54891668G>T	ENST00000521604.2	-	8	1145	c.742C>A	c.(742-744)Cat>Aat	p.H248N	TCEA1_ENST00000522635.1_Missense_Mutation_p.H64N|TCEA1_ENST00000396401.3_Missense_Mutation_p.H227N|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	248	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H64Y(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GCCATCTGATGCTCTCTGATG	0.433			T	PLAG1	salivary adenoma																																			Dom	yes		8	8q11.2	6917	"""transcription elongation factor A (SII), 1"""		E	1	Substitution - Missense(1)	large_intestine(1)											124.0	113.0	117.0					8																	54891668		1863	4116	5979	SO:0001583	missense	0			X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.742C>A	8.37:g.54891668G>T	ENSP00000428426:p.His248Asn		A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.H248N	ENST00000521604.2	37	c.742	CCDS47858.1	8	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332706	0.81801	.	.	ENSG00000187735	ENST00000396401;ENST00000521604;ENST00000522635	.	.	.	5.07	5.07	0.68467	Transcription elongation factor S-II, central domain (2);	0.098866	0.64402	D	0.000001	D	0.85283	0.5661	M	0.89904	3.07	0.80722	D	1	P;D;D	0.76494	0.944;0.999;0.992	P;D;D	0.73380	0.76;0.955;0.98	D	0.88023	0.2770	9	0.62326	D	0.03	-7.58	18.834	0.92153	0.0:0.0:1.0:0.0	.	64;227;248	B7Z4S1;P23193-2;P23193	.;.;TCEA1_HUMAN	N	227;248;64	.	ENSP00000395483:H227N	H	-	1	0	TCEA1	55054221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.740000	0.98839	2.523000	0.85059	0.555000	0.69702	CAT	TCEA1	-	pfam_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII	ENSG00000187735		0.433	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA1	HGNC	protein_coding	OTTHUMT00000377975.2		0.00	52	0	G	NM_006756		54891668	-1			no_errors	ENST00000521604	ensembl	human	known	74_37	missense	6.67	41	3	SNP	1.000	T
TCHHL1	126637	genome.wustl.edu	37	1	152058266	152058266	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:152058266C>A	ENST00000368806.1	-	3	1956	c.1892G>T	c.(1891-1893)gGa>gTa	p.G631V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	631							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGTGTTCTCCTCTGGCAGG	0.552																																																	0													127.0	117.0	120.0					1																	152058266		2203	4300	6503	SO:0001583	missense	0				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1892G>T	1.37:g.152058266C>A	ENSP00000357796:p.Gly631Val		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.G631V	ENST00000368806.1	37	c.1892	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.272225	0.23221	.	.	ENSG00000182898	ENST00000368806	T	0.23950	1.88	5.08	-5.23	0.02798	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	0.999996	B	0.14012	0.009	B	0.14023	0.01	T	0.43798	-0.9369	9	0.31617	T	0.26	2.9726	7.4237	0.27085	0.1437:0.5543:0.0:0.302	.	631	Q5QJ38	TCHL1_HUMAN	V	631	ENSP00000357796:G631V	ENSP00000357796:G631V	G	-	2	0	TCHHL1	150324890	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.816000	0.04477	-0.823000	0.04301	-1.105000	0.02106	GGA	TCHHL1	-	NULL	ENSG00000182898		0.552	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	-	0.00	77	0	C	XM_060104		152058266	-1	tier1	-	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.000	A
TCTE1	202500	genome.wustl.edu	37	6	44254036	44254036	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:44254036T>C	ENST00000371505.4	-	3	633	c.511A>G	c.(511-513)Acc>Gcc	p.T171A	TCTE1_ENST00000371503.3_Missense_Mutation_p.T18A|TCTE1_ENST00000371504.1_Missense_Mutation_p.T18A|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	171										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGTCTGTGGTGCCTGGGATA	0.642																																																	0													49.0	39.0	43.0					6																	44254036		2203	4300	6503	SO:0001583	missense	0			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.511A>G	6.37:g.44254036T>C	ENSP00000360560:p.Thr171Ala		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.T171A	ENST00000371505.4	37	c.511	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328252	0.41197	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.46451	1.99;0.87;0.87	5.0	3.8	0.43715	.	0.342143	0.33813	N	0.004536	T	0.19287	0.0463	M	0.79475	2.455	0.36435	D	0.865115	P	0.39282	0.666	B	0.27380	0.079	T	0.05616	-1.0874	10	0.41790	T	0.15	-35.119	5.7274	0.18020	0.15:0.079:0.0:0.7709	.	171	Q5JU00	TCTE1_HUMAN	A	171;18;18	ENSP00000360560:T171A;ENSP00000360558:T18A;ENSP00000360559:T18A	ENSP00000360558:T18A	T	-	1	0	TCTE1	44362014	0.896000	0.30565	0.746000	0.31095	0.619000	0.37552	1.381000	0.34362	0.715000	0.32103	0.379000	0.24179	ACC	TCTE1	-	NULL	ENSG00000146221		0.642	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	-	0.00	44	0	T	NM_182539		44254036	-1	tier1	-	no_errors	ENST00000371505	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.991	C
TEAD4	7004	genome.wustl.edu	37	12	3149639	3149639	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:3149639G>A	ENST00000397122.2	+	11	1198	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	TEAD4_ENST00000358409.2_Missense_Mutation_p.E391K|TEAD4_ENST00000359864.2_Missense_Mutation_p.E434K|RP11-253E3.3_ENST00000513358.3_RNA	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	434					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCTGGTGAAAGAATGAGAGAC	0.602																																																	0													45.0	41.0	43.0					12																	3149639		2203	4300	6503	SO:0001583	missense	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.913G>A	12.37:g.3149639G>A	ENSP00000380311:p.Glu305Lys		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.E434K	ENST00000397122.2	37	c.1300	CCDS41737.1	12	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250261	0.80024	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.57907	0.37;0.38;0.38	4.69	4.69	0.59074	.	0.127755	0.52532	D	0.000063	T	0.43875	0.1267	L	0.40543	1.245	0.58432	D	0.999997	B	0.32573	0.376	B	0.22753	0.041	T	0.51434	-0.8706	10	0.87932	D	0	-10.8232	16.8124	0.85724	0.0:0.0:1.0:0.0	.	434	Q15561	TEAD4_HUMAN	K	391;434;305	ENSP00000351184:E391K;ENSP00000352926:E434K;ENSP00000380311:E305K	ENSP00000351184:E391K	E	+	1	0	TEAD4	3019900	1.000000	0.71417	0.870000	0.34147	0.991000	0.79684	5.612000	0.67681	2.437000	0.82529	0.655000	0.94253	GAA	TEAD4	-	pirsf_TEF	ENSG00000197905		0.602	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398477.1	-	0.00	41	0	G	NM_003213		3149639	+1	tier1	-	no_errors	ENST00000359864	ensembl	human	known	74_37	missense	58.82	7	10	SNP	1.000	A
TEX101	83639	genome.wustl.edu	37	19	43922138	43922138	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:43922138G>T	ENST00000598265.1	+	5	666	c.500G>T	c.(499-501)gGa>gTa	p.G167V	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.G185V|TEX101_ENST00000602198.1_Missense_Mutation_p.G185V	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	167	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGCTATCAAGGAAAACTTGAG	0.473																																																	0													178.0	151.0	160.0					19																	43922138		2203	4300	6503	SO:0001583	missense	0			AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.500G>T	19.37:g.43922138G>T	ENSP00000472769:p.Gly167Val		Q7L5R2|Q9BPY7	Missense_Mutation	SNP	pfam_LY6_UPAR	p.G185V	ENST00000598265.1	37	c.554	CCDS59393.1	19	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823749	0.50739	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.68765	-0.35	3.88	3.88	0.44766	CD59 antigen (1);	0.000000	0.52532	D	0.000063	T	0.81650	0.4867	M	0.85945	2.785	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84148	0.0421	10	0.87932	D	0	-14.048	11.6574	0.51325	0.0:0.0:1.0:0.0	.	167;185	Q9BY14;Q9BY14-2	TX101_HUMAN;.	V	185;180	ENSP00000253435:G185V	ENSP00000253435:G185V	G	+	2	0	TEX101	48613978	0.998000	0.40836	0.959000	0.39883	0.594000	0.36715	3.083000	0.50136	2.446000	0.82766	0.563000	0.77884	GGA	TEX101	-	pfam_LY6_UPAR	ENSG00000131126		0.473	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	TEX101	HGNC	protein_coding	OTTHUMT00000463176.1	-	0.00	55	0	G	NM_031451		43922138	+1	tier1	-	no_errors	ENST00000253435	ensembl	human	known	74_37	missense	24.14	44	14	SNP	0.981	T
TEX15	56154	genome.wustl.edu	37	8	30724896	30724896	+	5'UTR	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:30724896G>A	ENST00000523186.1	-	0	504							Q9BXT5	TEX15_HUMAN	testis expressed 15						fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATCTTCAATGTAGATGCTCT	0.363																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000523186.1:c.-1016C>T	8.37:g.30724896G>A				RNA	SNP	-	NULL	ENST00000523186.1	37	NULL		8																																																																																			TEX15	-	-	ENSG00000133863		0.363	TEX15-002	KNOWN	basic	processed_transcript	TEX15	HGNC	protein_coding	OTTHUMT00000376194.2	-	0.00	102	0	G			30724896	-1	tier1	-	no_errors	ENST00000523186	ensembl	human	known	74_37	rna	47.83	24	22	SNP	0.010	A
TG	7038	genome.wustl.edu	37	8	133920543	133920543	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:133920543C>T	ENST00000220616.4	+	18	4000	c.3960C>T	c.(3958-3960)ttC>ttT	p.F1320F	TG_ENST00000377869.1_Silent_p.F1320F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1320					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCAGGTTTTCATATTGGATG	0.582																																																	0													73.0	67.0	69.0					8																	133920543		2203	4300	6503	SO:0001819	synonymous_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3960C>T	8.37:g.133920543C>T			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.F1320	ENST00000220616.4	37	c.3960	CCDS34944.1	8																																																																																			TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.582	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0.00	78	0	C	NM_003235		133920543	+1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.083	T
TGIF2LX	90316	genome.wustl.edu	37	X	89177107	89177107	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:89177107C>T	ENST00000561129.2	+	1	153	c.23C>T	c.(22-24)cCg>cTg	p.P8L	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P8L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCGGACGGCCCGGCTGAGACC	0.532																																																	0													43.0	51.0	49.0					X																	89177107		2201	4300	6501	SO:0001583	missense	0			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.23C>T	X.37:g.89177107C>T	ENSP00000453704:p.Pro8Leu		Q5JRM9|Q8TD48	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P8L	ENST00000561129.2	37	c.23	CCDS14459.1	X	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904709	0.17760	.	.	ENSG00000153779	ENST00000283891	T	0.72282	-0.64	2.2	1.33	0.21861	.	.	.	.	.	T	0.50120	0.1597	L	0.38175	1.15	0.09310	N	1	P	0.35551	0.509	B	0.24006	0.05	T	0.30822	-0.9965	8	.	.	.	.	4.2684	0.10775	0.0:0.7904:0.0:0.2096	.	8	Q8IUE1	TF2LX_HUMAN	L	8	ENSP00000355119:P8L	.	P	+	2	0	TGIF2LX	89063763	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.345000	0.19979	0.386000	0.24997	0.513000	0.50165	CCG	TGIF2LX	-	NULL	ENSG00000153779		0.532	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	-	0.00	91	0	C	NM_138960		89177107	+1	tier1	-	no_errors	ENST00000283891	ensembl	human	known	74_37	missense	86.02	13	80	SNP	0.000	T
TGM5	9333	genome.wustl.edu	37	15	43525456	43525456	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:43525456T>A	ENST00000220420.5	-	13	2103	c.2096A>T	c.(2095-2097)aAt>aTt	p.N699I	TGM5_ENST00000349114.4_Missense_Mutation_p.N617I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	699					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCTTCTCATATTAGCTTGGAT	0.438																																																	0													210.0	176.0	187.0					15																	43525456		2203	4299	6502	SO:0001583	missense	0			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.2096A>T	15.37:g.43525456T>A	ENSP00000220420:p.Asn699Ile		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.N699I	ENST00000220420.5	37	c.2096	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455820	0.84209	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.69175	-0.38;-0.38	5.97	5.97	0.96955	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.149394	0.64402	D	0.000020	T	0.80513	0.4637	M	0.80422	2.495	0.40256	D	0.978128	P;D	0.63880	0.78;0.993	P;P	0.61003	0.731;0.882	D	0.83842	0.0258	10	0.72032	D	0.01	-12.4991	14.3975	0.67020	0.0:0.0:0.0:1.0	.	617;699	O43548-2;O43548	.;TGM5_HUMAN	I	699;617;698	ENSP00000220420:N699I;ENSP00000220419:N617I	ENSP00000220420:N699I	N	-	2	0	TGM5	41312748	1.000000	0.71417	0.985000	0.45067	0.887000	0.51463	3.677000	0.54619	2.275000	0.75901	0.533000	0.62120	AAT	TGM5	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000104055		0.438	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	-	0.00	62	0	T	NM_004245		43525456	-1	tier1	-	no_errors	ENST00000220420	ensembl	human	known	74_37	missense	20.45	35	9	SNP	0.897	A
TGM6	343641	genome.wustl.edu	37	20	2411096	2411096	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:2411096G>C	ENST00000202625.2	+	11	1744	c.1683G>C	c.(1681-1683)aaG>aaC	p.K561N	TGM6_ENST00000381423.1_Missense_Mutation_p.K561N	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	561					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTCCAGAGAAGAGAATCCCAA	0.448																																																	0													89.0	86.0	87.0					20																	2411096		2203	4300	6503	SO:0001583	missense	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1683G>C	20.37:g.2411096G>C	ENSP00000202625:p.Lys561Asn		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.K561N	ENST00000202625.2	37	c.1683	CCDS13025.1	20	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205285	0.58234	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.69435	-0.4;-0.4	5.78	2.45	0.29901	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.098340	0.64402	D	0.000002	T	0.74298	0.3698	M	0.78456	2.415	0.29470	N	0.857087	D;P	0.57257	0.979;0.954	P;P	0.57324	0.818;0.727	T	0.69480	-0.5134	10	0.51188	T	0.08	-24.9192	8.1203	0.30967	0.2059:0.0:0.7941:0.0	.	561;561	O95932-2;O95932	.;TGM3L_HUMAN	N	561	ENSP00000202625:K561N;ENSP00000370831:K561N	ENSP00000202625:K561N	K	+	3	2	TGM6	2359096	0.812000	0.29077	0.998000	0.56505	0.967000	0.64934	0.912000	0.28597	0.617000	0.30160	0.655000	0.94253	AAG	TGM6	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000166948		0.448	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	-	0.00	82	0	G	NM_198994		2411096	+1	tier1	-	no_errors	ENST00000202625	ensembl	human	known	74_37	missense	18.18	54	12	SNP	0.984	C
TINAGL1	64129	genome.wustl.edu	37	1	32052629	32052629	+	3'UTR	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:32052629G>A	ENST00000271064.7	+	0	1529				TINAGL1_ENST00000457433.2_3'UTR|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1						endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GCTAAGGGCCGGCGGAAGAGG	0.746																																																	0													10.0	13.0	12.0					1																	32052629		2097	4125	6222	SO:0001624	3_prime_UTR_variant	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.*49G>A	1.37:g.32052629G>A			A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	RNA	SNP	-	NULL	ENST00000271064.7	37	NULL	CCDS343.1	1																																																																																			TINAGL1	-	-	ENSG00000142910		0.746	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1	-	0.00	27	0	G	NM_022164		32052629	+1	tier1	-	no_errors	ENST00000463112	ensembl	human	known	74_37	rna	19.05	17	4	SNP	0.000	A
TLN2	83660	genome.wustl.edu	37	15	63111820	63111820	+	Splice_Site	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:63111820G>T	ENST00000561311.1	+	52	7107	c.6877G>T	c.(6877-6879)Gga>Tga	p.G2293*	TLN2_ENST00000306829.6_Splice_Site_p.G2293*			Q9Y4G6	TLN2_HUMAN	talin 2	2293					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCCATGAAAGGTAGGCTGGA	0.572																																																	0													37.0	38.0	38.0					15																	63111820		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6877+1G>T	15.37:g.63111820G>T			A6NLB8	Nonsense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.G2293*	ENST00000561311.1	37	c.6877	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.656022	0.98903	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.9312	19.1508	0.93487	0.0:0.0:1.0:0.0	.	.	.	.	X	2293	.	ENSP00000303476:G2293X	G	+	1	0	TLN2	60898873	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	9.741000	0.98843	2.524000	0.85096	0.561000	0.74099	GGA	TLN2	-	NULL	ENSG00000171914		0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0.00	30	0	G		Nonsense_Mutation	63111820	+1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	nonsense	19.05	17	4	SNP	1.000	T
TMEM131	23505	genome.wustl.edu	37	2	98377310	98377310	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:98377310T>A	ENST00000186436.5	-	37	5185	c.4957A>T	c.(4957-4959)Aag>Tag	p.K1653*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1653						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTGCCGTTCTTGCCCGGGAGC	0.532																																																	0													103.0	107.0	106.0					2																	98377310		2007	4173	6180	SO:0001587	stop_gained	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4957A>T	2.37:g.98377310T>A	ENSP00000186436:p.Lys1653*			Nonsense_Mutation	SNP	pfam_DUF3651_TMEM131	p.K1653*	ENST00000186436.5	37	c.4957	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	T	46	12.490148	0.99672	.	.	ENSG00000075568	ENST00000186436	.	.	.	5.45	3.04	0.35103	.	0.196123	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9685	12.7826	0.57485	0.0:0.0:0.4231:0.5769	.	.	.	.	X	1653	.	ENSP00000186436:K1653X	K	-	1	0	TMEM131	97743742	1.000000	0.71417	0.690000	0.30148	0.915000	0.54546	1.350000	0.34010	0.428000	0.26173	0.523000	0.50628	AAG	TMEM131	-	NULL	ENSG00000075568		0.532	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	-	0.00	54	0	T	XM_371542		98377310	-1	tier1	-	no_errors	ENST00000186436	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	0.850	A
TNFRSF25	8718	genome.wustl.edu	37	1	6522067	6522067	+	Silent	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:6522067G>T	ENST00000356876.3	-	9	999	c.912C>A	c.(910-912)ccC>ccA	p.P304P	TNFRSF25_ENST00000377782.3_Silent_p.P313P|TNFRSF25_ENST00000351748.3_Silent_p.P121P|TNFRSF25_ENST00000351959.5_Silent_p.P267P|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000348333.3_Silent_p.P259P	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	304					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GAGCTCTGCTGGGCAACTGGT	0.607																																																	0													75.0	72.0	73.0					1																	6522067		2203	4300	6503	SO:0001819	synonymous_variant	0			U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.912C>A	1.37:g.6522067G>T			B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Silent	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.P313	ENST00000356876.3	37	c.939	CCDS71.1	1																																																																																			TNFRSF25	-	prints_TNFR_25	ENSG00000215788		0.607	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1		0.00	41	0	G	NM_148965		6522067	-1			no_errors	ENST00000377782	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.747	T
TMEM201	199953	genome.wustl.edu	37	1	9658561	9658561	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:9658561A>C	ENST00000340381.6	+	4	493	c.484A>C	c.(484-486)Aag>Cag	p.K162Q	TMEM201_ENST00000340305.5_Missense_Mutation_p.K162Q|TMEM201_ENST00000377376.4_Missense_Mutation_p.K162Q	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	162					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGATGTACAAGCTGTGCCG	0.632																																																	0													85.0	76.0	79.0					1																	9658561		2203	4300	6503	SO:0001583	missense	0				CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.484A>C	1.37:g.9658561A>C	ENSP00000344503:p.Lys162Gln		B9EH90|Q5SNT3	Missense_Mutation	SNP	pfam_DUF2448,pfam_Ima1_N	p.K162Q	ENST00000340381.6	37	c.484	CCDS44055.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.323549|4.323549	0.81580|0.81580	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381|ENST00000416541	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60663|0.60663	0.2286|0.2286	L|L	0.45581|0.45581	1.43|1.43	0.46823|0.46823	D|D	0.999215|0.999215	D;P|.	0.89917|.	1.0;0.741|.	D;P|.	0.97110|.	1.0;0.692|.	T|T	0.58429|0.58429	-0.7638|-0.7638	9|5	0.44086|.	T|.	0.13|.	-33.9997|-33.9997	13.1714|13.1714	0.59599|0.59599	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	162;162|.	E9PBR6;Q5SNT2-2|.	.;.|.	Q|P	162|71	.|.	ENSP00000344772:K162Q|.	K|Q	+|+	1|2	0|0	TMEM201|TMEM201	9581148|9581148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	8.604000|8.604000	0.90877|0.90877	2.052000|2.052000	0.61016|0.61016	0.459000|0.459000	0.35465|0.35465	AAG|CAA	TMEM201	-	pfam_Ima1_N	ENSG00000188807		0.632	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM201	HGNC	protein_coding	OTTHUMT00000127672.1	-	0.00	117	0	A	NM_001010866		9658561	+1	tier1	-	no_errors	ENST00000340381	ensembl	human	known	74_37	missense	23.30	79	24	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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"""	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		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	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R342*	ENST00000269305.4	37	c.1024	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	36	0	G	NM_000546		7574003	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	86.67	2	13	SNP	0.307	A
TRAM1L1	133022	genome.wustl.edu	37	4	118006217	118006217	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:118006217G>C	ENST00000310754.4	-	1	519	c.333C>G	c.(331-333)ttC>ttG	p.F111L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	111					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						TCGCTTTGGTGAACTGCATTC	0.358																																																	0													90.0	80.0	83.0					4																	118006217		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.333C>G	4.37:g.118006217G>C	ENSP00000309402:p.Phe111Leu		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.F111L	ENST00000310754.4	37	c.333	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	G	1.220	-0.627127	0.03610	.	.	ENSG00000174599	ENST00000310754	T	0.35048	1.33	4.29	0.312	0.15837	TRAM1-like protein (1);	0.047262	0.85682	N	0.000000	T	0.12944	0.0314	N	0.10972	0.075	0.45777	D	0.998669	B	0.10296	0.003	B	0.20184	0.028	T	0.30060	-0.9991	10	0.02654	T	1	-22.3027	4.278	0.10818	0.3907:0.1669:0.4424:0.0	.	111	Q8N609	TR1L1_HUMAN	L	111	ENSP00000309402:F111L	ENSP00000309402:F111L	F	-	3	2	TRAM1L1	118225665	1.000000	0.71417	0.996000	0.52242	0.708000	0.40852	0.886000	0.28241	0.009000	0.14813	0.655000	0.94253	TTC	TRAM1L1	-	pfam_TRAM1,pirsf_Translocation_assoc_membrane	ENSG00000174599		0.358	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0.00	100	0	G	NM_152402		118006217	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	75.56	11	34	SNP	1.000	C
TRANK1	9881	genome.wustl.edu	37	3	36897779	36897779	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:36897779A>G	ENST00000429976.2	-	12	3549	c.3302T>C	c.(3301-3303)aTt>aCt	p.I1101T	TRANK1_ENST00000301807.6_Missense_Mutation_p.I551T|TRANK1_ENST00000428977.2_Missense_Mutation_p.I551T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1101	Glu-rich.						ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCACTTCAATAGAAtcttc	0.547																																																	0													25.0	27.0	27.0					3																	36897779		2031	4180	6211	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3302T>C	3.37:g.36897779A>G	ENSP00000416168:p.Ile1101Thr		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.I1101T	ENST00000429976.2	37	c.3302	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.084314	0.00371	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29917	1.55;1.96;1.55	5.31	-10.6	0.00265	.	3.624960	0.00559	N	0.000261	T	0.10723	0.0262	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10291	-1.0636	10	0.16896	T	0.51	.	7.3781	0.26839	0.199:0.2596:0.4619:0.0796	.	1101	O15050	TRNK1_HUMAN	T	551;1101;551	ENSP00000416826:I551T;ENSP00000416168:I1101T;ENSP00000301807:I551T	ENSP00000301807:I551T	I	-	2	0	TRANK1	36872783	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.249000	0.02888	-2.352000	0.00616	-0.379000	0.06801	ATT	TRANK1	-	superfamily_P-loop_NTPase	ENSG00000168016		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0.00	36	0	A	NM_014831		36897779	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	48.48	17	16	SNP	0.000	G
TRIP10	9322	genome.wustl.edu	37	19	6750420	6750420	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:6750420G>A	ENST00000313244.9	+	13	1548	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	TRIP10_ENST00000313285.8_Missense_Mutation_p.A449T|TRIP10_ENST00000600428.1_Missense_Mutation_p.A341T|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.A449T			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	505	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CAGCAACAGCGCATCACAGGA	0.637																																																	0													55.0	65.0	61.0					19																	6750420		2203	4300	6503	SO:0001583	missense	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1513G>A	19.37:g.6750420G>A	ENSP00000320117:p.Ala505Thr		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.A505T	ENST00000313244.9	37	c.1513		19	.	.	.	.	.	.	.	.	.	.	G	2.249	-0.372096	0.05034	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.73575	-0.76;-0.76	4.42	1.96	0.26148	.	2.275110	0.01712	N	0.027763	T	0.48822	0.1521	N	0.08118	0	0.09310	N	1	P;B;B	0.37233	0.588;0.031;0.0	B;B;B	0.29524	0.103;0.01;0.0	T	0.52823	-0.8524	10	0.11182	T	0.66	-0.5287	4.3466	0.11136	0.138:0.0:0.652:0.21	.	449;505;449	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	T	449;505;449	ENSP00000320493:A449T;ENSP00000320117:A505T	ENSP00000320117:A505T	A	+	1	0	TRIP10	6701420	0.023000	0.18921	0.001000	0.08648	0.337000	0.28794	1.676000	0.37565	0.932000	0.37266	0.313000	0.20887	GCA	TRIP10	-	NULL	ENSG00000125733		0.637	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	-	0.00	89	0	G			6750420	+1	tier1	-	no_errors	ENST00000313244	ensembl	human	known	74_37	missense	41.67	28	20	SNP	0.000	A
TRPM4	54795	genome.wustl.edu	37	19	49699775	49699775	+	Silent	SNP	C	C	T	rs200760537	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:49699775C>T	ENST00000252826.5	+	17	2415	c.2289C>T	c.(2287-2289)tgC>tgT	p.C763C	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Silent_p.C409C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	763					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGGCCGCTGCGGGGGGCGCC	0.701																																																	0													7.0	7.0	7.0					19																	49699775		2034	3943	5977	SO:0001819	synonymous_variant	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2289C>T	19.37:g.49699775C>T			A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	pfam_Ion_trans_dom	p.C763	ENST00000252826.5	37	c.2289	CCDS33073.1	19																																																																																			TRPM4	-	NULL	ENSG00000130529		0.701	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	-	0.00	35	0	C	NM_017636		49699775	+1	tier1	-	no_errors	ENST00000252826	ensembl	human	known	74_37	silent	57.41	23	31	SNP	0.000	T
TRPV4	59341	genome.wustl.edu	37	12	110252435	110252435	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:110252435C>T	ENST00000418703.2	-	1	261	c.167G>A	c.(166-168)cGc>cAc	p.R56H	TRPV4_ENST00000537083.1_Missense_Mutation_p.R56H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R56H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R56H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R56H|TRPV4_ENST00000536838.1_Intron|TRPV4_ENST00000536570.1_5'Flank|TRPV4_ENST00000346520.2_Missense_Mutation_p.R56H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R56H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	56					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCCAGCAGGGCGACTGGCATC	0.647																																																	0													32.0	32.0	32.0					12																	110252435		2203	4300	6503	SO:0001583	missense	0			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.167G>A	12.37:g.110252435C>T	ENSP00000406191:p.Arg56His		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.R56H	ENST00000418703.2	37	c.167	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132979	0.56828	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794	D;D;D;D;D;D;D	0.89810	-2.55;-2.55;-2.39;-2.57;-2.4;-2.57;-2.39	3.52	3.52	0.40303	.	0.611855	0.16346	U	0.218424	D	0.86134	0.5860	N	0.24115	0.695	0.30186	N	0.799929	D;P;D;P	0.64830	0.994;0.855;0.986;0.91	P;B;P;B	0.51415	0.669;0.2;0.541;0.365	D	0.83604	0.0130	10	0.52906	T	0.07	.	13.6467	0.62286	0.0:1.0:0.0:0.0	.	56;56;56;56	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4	.;TRPV4_HUMAN;.;.	H	56	ENSP00000406191:R56H;ENSP00000261740:R56H;ENSP00000376480:R56H;ENSP00000319003:R56H;ENSP00000443611:R56H;ENSP00000442738:R56H;ENSP00000442167:R56H	ENSP00000261740:R56H	R	-	2	0	TRPV4	108736818	0.998000	0.40836	0.736000	0.30914	0.673000	0.39480	1.804000	0.38873	1.524000	0.49035	0.281000	0.19383	CGC	TRPV4	-	NULL	ENSG00000111199		0.647	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	-	0.00	83	0	C	NM_021625		110252435	-1	tier1	-	no_errors	ENST00000261740	ensembl	human	known	74_37	missense	54.84	28	34	SNP	0.998	T
TSC2	7249	genome.wustl.edu	37	16	2110683	2110683	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:2110683C>G	ENST00000219476.3	+	11	1618	c.988C>G	c.(988-990)Ccg>Gcg	p.P330A	TSC2_ENST00000401874.2_Missense_Mutation_p.P330A|TSC2_ENST00000350773.4_Missense_Mutation_p.P330A|TSC2_ENST00000439673.2_Missense_Mutation_p.P293A|TSC2_ENST00000382538.6_Missense_Mutation_p.P281A|TSC2_ENST00000568454.1_Missense_Mutation_p.P341A|TSC2_ENST00000353929.4_Missense_Mutation_p.P330A	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	330	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATGGCATGTCCGAACGAGGT	0.592			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													169.0	140.0	150.0					16																	2110683		2198	4300	6498	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.988C>G	16.37:g.2110683C>G	ENSP00000219476:p.Pro330Ala		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.P330A	ENST00000219476.3	37	c.988	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	.	1.273	-0.612430	0.03690	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	4.6	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.171187	0.52532	D	0.000064	T	0.52500	0.1738	N	0.04043	-0.29	0.36410	D	0.863665	B;B;B;B;P;B	0.49961	0.016;0.013;0.0;0.029;0.93;0.004	B;B;B;B;P;B	0.53224	0.086;0.076;0.001;0.076;0.721;0.016	T	0.59867	-0.7373	10	0.33141	T	0.24	-37.6811	10.1744	0.42931	0.1541:0.6975:0.1484:0.0	.	281;293;330;330;330;330	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	A	330;330;330;293;281;330	ENSP00000219476:P330A;ENSP00000384468:P330A;ENSP00000248099:P330A;ENSP00000399232:P293A;ENSP00000371978:P281A;ENSP00000344383:P330A	ENSP00000219476:P330A	P	+	1	0	TSC2	2050684	1.000000	0.71417	0.812000	0.32479	0.062000	0.15995	2.632000	0.46511	1.046000	0.40249	-0.264000	0.10439	CCG	TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold	ENSG00000103197		0.592	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0.00	53	0	C	NM_000548		2110683	+1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	G
TSHZ3	57616	genome.wustl.edu	37	19	31768920	31768920	+	Silent	SNP	A	A	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:31768920A>G	ENST00000240587.4	-	2	2106	c.1779T>C	c.(1777-1779)tcT>tcC	p.S593S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	593					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGTGGAGAGACCAGGG	0.552																																																	0													96.0	103.0	101.0					19																	31768920		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1779T>C	19.37:g.31768920A>G			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S593	ENST00000240587.4	37	c.1779	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0.00	36	0	A	NM_020856		31768920	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.008	G
TTN	7273	genome.wustl.edu	37	2	179393791	179393791	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179393791G>T	ENST00000591111.1	-	310	101988	c.101764C>A	c.(101764-101766)Ctc>Atc	p.L33922I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L32995I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L26623I|TTN_ENST00000460472.2_Missense_Mutation_p.L26498I|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L35563I|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L26690I			Q8WZ42	TITIN_HUMAN	titin	33922					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)			TCCTCTTTGAGGGCTAACTTT	0.403																																																	0													92.0	85.0	87.0					2																	179393791		1821	4076	5897	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.101764C>A	2.37:g.179393791G>T	ENSP00000465570:p.Leu33922Ile		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.L32995I	ENST00000591111.1	37	c.98983		2	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869962	0.33069	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62941	-0.01;0.19;0.17;0.16	5.54	-2.47	0.06442	Ribonuclease H-like (1);	.	.	.	.	T	0.35624	0.0938	N	0.08118	0	0.19575	N	0.999967	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26189	-1.0110	9	0.87932	D	0	.	4.9267	0.13896	0.0774:0.1127:0.2472:0.5626	.	26498;26623;26690;33922;32995	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	I	32995;26498;26690;26623;26495	ENSP00000343764:L32995I;ENSP00000434586:L26498I;ENSP00000340554:L26690I;ENSP00000352154:L26623I	ENSP00000340554:L26690I	L	-	1	0	TTN	179102037	0.325000	0.24660	0.795000	0.32087	0.529000	0.34654	-0.676000	0.05221	-0.074000	0.12820	-0.182000	0.12963	CTC	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	84	0	G	NM_133378		179393791	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.815	T
TTN	7273	genome.wustl.edu	37	2	179418692	179418692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179418692G>A	ENST00000591111.1	-	283	84447	c.84223C>T	c.(84223-84225)Cag>Tag	p.Q28075*	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q27148*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q20776*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q20651*|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q29716*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q20843*			Q8WZ42	TITIN_HUMAN	titin	28075	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AATGGACCCTGTCCAGCAGCG	0.423																																																	0													89.0	89.0	89.0					2																	179418692		1925	4132	6057	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.84223C>T	2.37:g.179418692G>A	ENSP00000465570:p.Gln28075*		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.Q27148*	ENST00000591111.1	37	c.81442		2	.	.	.	.	.	.	.	.	.	.	G	66	94.467265	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.61	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.2789	0.20997	0.0694:0.1136:0.6374:0.1796	.	.	.	.	X	27148;20651;20843;20776;20648	.	ENSP00000340554:Q20843X	Q	-	1	0	TTN	179126938	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	2.186000	0.42593	0.636000	0.30508	0.655000	0.94253	CAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	43	0	G	NM_133378		179418692	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	16.22	31	6	SNP	0.996	A
TTN	7273	genome.wustl.edu	37	2	179433476	179433476	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179433476C>T	ENST00000591111.1	-	276	72684	c.72460G>A	c.(72460-72462)Gta>Ata	p.V24154I	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23227I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16855I|TTN_ENST00000460472.2_Missense_Mutation_p.V16730I|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25795I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V16922I			Q8WZ42	TITIN_HUMAN	titin	24154					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)			GGCTCAATTACCAGATCTTTG	0.418																																																	0													81.0	76.0	77.0					2																	179433476		1889	4110	5999	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.72460G>A	2.37:g.179433476C>T	ENSP00000465570:p.Val24154Ile		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.V23227I	ENST00000591111.1	37	c.69679		2	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926431	0.34002	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;0.17;0.13;0.12	5.93	5.93	0.95920	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50650	0.1628	N	0.20401	0.57	0.46096	D	0.998863	P;P;P;P	0.44006	0.824;0.824;0.824;0.824	B;B;B;B	0.37015	0.182;0.182;0.182;0.239	T	0.58482	-0.7629	9	0.87932	D	0	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	16730;16855;16922;24154	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23227;16730;16922;16855;16728	ENSP00000343764:V23227I;ENSP00000434586:V16730I;ENSP00000340554:V16922I;ENSP00000352154:V16855I	ENSP00000340554:V16922I	V	-	1	0	TTN	179141722	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.726000	0.54977	2.808000	0.96608	0.655000	0.94253	GTA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	30	0	C	NM_133378		179433476	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179468904	179468904	+	Silent	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179468904T>C	ENST00000591111.1	-	232	49811	c.49587A>G	c.(49585-49587)ccA>ccG	p.P16529P	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P15602P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.P9230P|TTN_ENST00000460472.2_Silent_p.P9105P|TTN_ENST00000589042.1_Silent_p.P18170P|TTN_ENST00000342175.6_Silent_p.P9297P|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16529	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTGGTTTTCCTGGAGGTCCAG	0.463																																																	0													125.0	123.0	123.0					2																	179468904		1925	4126	6051	SO:0001819	synonymous_variant	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.49587A>G	2.37:g.179468904T>C			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	Silent	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.P15602	ENST00000591111.1	37	c.46806		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	77	0	T	NM_133378		179468904	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.926	C
TULP4	56995	genome.wustl.edu	37	6	158902309	158902309	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:158902309G>A	ENST00000367097.3	+	8	2831	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	TULP4_ENST00000367094.2_Missense_Mutation_p.D492N	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	492					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCGCGGACAGATAGCAAACC	0.602																																																	0													27.0	28.0	27.0					6																	158902309		2203	4300	6503	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1474G>A	6.37:g.158902309G>A	ENSP00000356064:p.Asp492Asn		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D492N	ENST00000367097.3	37	c.1474	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.164261	0.94727	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.62364	0.03;0.87	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.85130	0.98;0.991;0.997	T	0.58014	-0.7711	10	0.21014	T	0.42	-28.0173	18.9788	0.92747	0.0:0.0:1.0:0.0	.	492;492;492	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	N	492	ENSP00000356064:D492N;ENSP00000356061:D492N	ENSP00000356061:D492N	D	+	1	0	TULP4	158822297	1.000000	0.71417	0.566000	0.28421	0.831000	0.47069	9.275000	0.95738	2.491000	0.84063	0.561000	0.74099	GAT	TULP4	-	NULL	ENSG00000130338		0.602	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	-	0.00	51	0	G	NM_020245		158902309	+1	tier1	-	no_errors	ENST00000367097	ensembl	human	known	74_37	missense	20.63	50	13	SNP	1.000	A
TXK	7294	genome.wustl.edu	37	4	48114499	48114499	+	Silent	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:48114499G>T	ENST00000264316.4	-	4	290	c.205C>A	c.(205-207)Cga>Aga	p.R69R	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	69					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGTGGCTTTCGTTTTGACGGC	0.428																																																	0													95.0	97.0	96.0					4																	48114499		2203	4300	6503	SO:0001819	synonymous_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.205C>A	4.37:g.48114499G>T			Q14220	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R69	ENST00000264316.4	37	c.205	CCDS3480.1	4																																																																																			TXK	-	superfamily_SH3_domain	ENSG00000074966		0.428	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7		0.00	45	0	G	NM_003328		48114499	-1			no_errors	ENST00000264316	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.756	T
UNC80	285175	genome.wustl.edu	37	2	210714180	210714180	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:210714180C>A	ENST00000439458.1	+	22	3546	c.3466C>A	c.(3466-3468)Cac>Aac	p.H1156N	UNC80_ENST00000272845.6_Missense_Mutation_p.H1151N	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1156					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TACAGGTTGCCACAGTTTTGA	0.418																																																	0													66.0	53.0	57.0					2																	210714180		692	1590	2282	SO:0001583	missense	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.3466C>A	2.37:g.210714180C>A	ENSP00000391088:p.His1156Asn		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.H1156N	ENST00000439458.1	37	c.3466	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650277	0.29336	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.30448	1.54;1.53	5.71	5.71	0.89125	.	0.182000	0.47455	D	0.000238	T	0.25531	0.0621	N	0.22421	0.69	0.80722	D	1	B	0.21606	0.058	B	0.21917	0.037	T	0.03597	-1.1021	10	0.25751	T	0.34	-19.2368	19.8695	0.96845	0.0:1.0:0.0:0.0	.	1156	Q8N2C7	UNC80_HUMAN	N	1156;1151	ENSP00000391088:H1156N;ENSP00000272845:H1151N	ENSP00000272845:H1151N	H	+	1	0	UNC80	210422425	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.080000	0.71299	2.684000	0.91462	0.650000	0.86243	CAC	UNC80	-	NULL	ENSG00000144406		0.418	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		-	0.00	92	0	C	NM_182587		210714180	+1	tier1	-	no_errors	ENST00000439458	ensembl	human	known	74_37	missense	30.14	51	22	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	215931997	215931997	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:215931997G>T	ENST00000307340.3	-	58	11715	c.11329C>A	c.(11329-11331)Cct>Act	p.P3777T	USH2A_ENST00000366943.2_Missense_Mutation_p.P3777T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3777	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTATATGGAGGATAGATTTCT	0.358										HNSCC(13;0.011)																																							0													165.0	166.0	165.0					1																	215931997		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11329C>A	1.37:g.215931997G>T	ENSP00000305941:p.Pro3777Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P3777T	ENST00000307340.3	37	c.11329	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583019	0.46006	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.9	2.76	0.32466	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.374055	0.19118	N	0.122254	T	0.39436	0.1078	M	0.64997	1.995	0.34903	D	0.746717	B	0.31503	0.326	B	0.31946	0.138	T	0.42464	-0.9450	10	0.30078	T	0.28	.	4.9131	0.13833	0.0966:0.5037:0.2857:0.114	.	3777	O75445	USH2A_HUMAN	T	3777	ENSP00000305941:P3777T;ENSP00000355910:P3777T	ENSP00000305941:P3777T	P	-	1	0	USH2A	213998620	0.849000	0.29639	0.947000	0.38551	0.989000	0.77384	0.958000	0.29227	0.738000	0.32606	0.586000	0.80456	CCT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	93	0	G	NM_007123		215931997	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	20.37	86	22	SNP	0.890	T
USO1	8615	genome.wustl.edu	37	4	76655133	76655133	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:76655133C>T	ENST00000538159.1	+	2	184	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	USO1_ENST00000514213.2_Missense_Mutation_p.H48Y			O60763	USO1_HUMAN	USO1 vesicle transport factor	64	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTAGTCAAGCACATTTTATA	0.294																																																	0																																										SO:0001583	missense	0			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.184C>T	4.37:g.76655133C>T	ENSP00000440586:p.His62Tyr		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE	p.H62Y	ENST00000538159.1	37	c.184		4	.	.	.	.	.	.	.	.	.	.	C	7.476	0.647603	0.14516	.	.	ENSG00000138768	ENST00000538159;ENST00000514213	T;T	0.66460	0.85;-0.21	3.57	1.71	0.24356	.	0.049424	0.85682	D	0.000000	T	0.61540	0.2355	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.56189	-0.8020	7	0.87932	D	0	.	5.2038	0.15279	0.0:0.6717:0.2092:0.1191	.	.	.	.	Y	62;48	ENSP00000440586:H62Y;ENSP00000444850:H48Y	ENSP00000444850:H48Y	H	+	1	0	USO1	76874157	0.874000	0.30092	0.398000	0.26321	0.425000	0.31504	0.382000	0.20635	0.442000	0.26555	0.467000	0.42956	CAC	USO1	-	superfamily_ARM-type_fold	ENSG00000138768		0.294	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	USO1	HGNC	protein_coding		-	0.00	86	0	C	NM_003715		76655133	+1	tier1	-	no_errors	ENST00000538159	ensembl	human	known	74_37	missense	76.19	10	32	SNP	0.503	T
USP9X	8239	genome.wustl.edu	37	X	41007638	41007638	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:41007638C>T	ENST00000324545.8	+	12	2069	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	USP9X_ENST00000378308.2_Missense_Mutation_p.A479V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	479					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGGACAAATGCGAGTAAAAAG	0.373																																					Ovarian(172;1807 2695 35459 49286)												0													134.0	121.0	126.0					X																	41007638		2203	4300	6503	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1436C>T	X.37:g.41007638C>T	ENSP00000316357:p.Ala479Val		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.A479V	ENST00000324545.8	37	c.1436	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.166181	0.94768	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.67523	-0.27;-0.27	5.53	5.53	0.82687	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.78018	-0.2368	10	0.30854	T	0.27	.	18.5443	0.91040	0.0:1.0:0.0:0.0	.	479;479	Q93008-1;Q93008	.;USP9X_HUMAN	V	479	ENSP00000367558:A479V;ENSP00000316357:A479V	ENSP00000316357:A479V	A	+	2	0	USP9X	40892582	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.322000	0.78497	0.538000	0.68166	GCG	USP9X	-	superfamily_ARM-type_fold	ENSG00000124486		0.373	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0.00	64	0	C	NM_004652		41007638	+1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	missense	47.06	26	24	SNP	1.000	T
VMP1	81671	genome.wustl.edu	37	17	57917276	57917276	+	3'UTR	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:57917276G>C	ENST00000262291.4	+	0	1535				VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000536180.1_3'UTR|VMP1_ENST00000539763.1_3'UTR|VMP1_ENST00000545362.1_3'UTR|VMP1_ENST00000537567.1_3'UTR|MIR21_ENST00000362134.1_RNA	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1						autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TAAATAAGTAGAGAAAGTTTT	0.418																																																	0													78.0	76.0	77.0					17																	57917276		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.*4G>C	17.37:g.57917276G>C			B4DVV9|Q9H0P4|Q9P089	RNA	SNP	-	NULL	ENST00000262291.4	37	NULL	CCDS11619.1	17																																																																																			VMP1	-	-	ENSG00000062716		0.418	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	-	0.00	111	0	G	NM_030938		57917276	+1	tier1	-	no_errors	ENST00000588617	ensembl	human	known	74_37	rna	40.00	51	34	SNP	0.917	C
VSIG10	54621	genome.wustl.edu	37	12	118533405	118533405	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:118533405C>A	ENST00000359236.5	-	2	570	c.294G>T	c.(292-294)gaG>gaT	p.E98D	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	98	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGTAGATTCCCTCATCTCCCA	0.592																																																	0													88.0	97.0	94.0					12																	118533405		2116	4243	6359	SO:0001583	missense	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.294G>T	12.37:g.118533405C>A	ENSP00000352172:p.Glu98Asp		Q9NWQ7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E98D	ENST00000359236.5	37	c.294	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098443	0.20552	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.67345	-0.26;-0.26	4.99	1.02	0.19986	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.155706	0.30210	N	0.010146	T	0.56140	0.1965	L	0.49126	1.545	0.30268	N	0.792488	B	0.30482	0.281	B	0.38020	0.263	T	0.49485	-0.8935	10	0.22706	T	0.39	-18.387	4.5981	0.12340	0.0:0.4868:0.1604:0.3528	.	98	Q8N0Z9	VSI10_HUMAN	D	98	ENSP00000352172:E98D;ENSP00000442861:E98D	ENSP00000352172:E98D	E	-	3	2	VSIG10	117017788	0.562000	0.26586	0.989000	0.46669	0.174000	0.22865	-0.526000	0.06207	0.019000	0.15079	0.655000	0.94253	GAG	VSIG10	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000176834		0.592	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	-	0.00	76	0	C	NM_019086		118533405	-1	tier1	-	no_errors	ENST00000359236	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.997	A
WAC	51322	genome.wustl.edu	37	10	28879731	28879731	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:28879731G>T	ENST00000354911.4	+	6	741	c.580G>T	c.(580-582)Gca>Tca	p.A194S	WAC_ENST00000375646.1_Missense_Mutation_p.A149S|WAC_ENST00000375664.4_Missense_Mutation_p.A149S|WAC_ENST00000428935.1_Missense_Mutation_p.A149S|WAC_ENST00000347934.4_Missense_Mutation_p.A194S	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	194					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGTGATGCAAGCAACAGCCAC	0.338																																																	0													53.0	56.0	55.0					10																	28879731		2203	4300	6503	SO:0001583	missense	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.580G>T	10.37:g.28879731G>T	ENSP00000346986:p.Ala194Ser		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.A194S	ENST00000354911.4	37	c.580	CCDS7159.1	10	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151548	0.57151	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	T;T;T;T;T;T;T	0.47869	1.89;1.81;1.76;1.93;1.45;0.89;0.83	5.58	4.48	0.54585	.	0.102010	0.64402	D	0.000003	T	0.37128	0.0992	L	0.40543	1.245	0.80722	D	1	B;B;B	0.22683	0.05;0.073;0.005	B;B;B	0.27796	0.032;0.083;0.004	T	0.14062	-1.0486	10	0.05721	T	0.95	-9.4417	15.3329	0.74229	0.0786:0.0:0.9214:0.0	.	149;194;194	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	S	149;149;194;194;149;149;149;149;149;149	ENSP00000364816:A149S;ENSP00000364797:A149S;ENSP00000311106:A194S;ENSP00000346986:A194S;ENSP00000399706:A149S;ENSP00000404758:A149S;ENSP00000415645:A149S	ENSP00000311106:A194S	A	+	1	0	WAC	28919737	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.820000	0.86633	2.628000	0.89032	0.563000	0.77884	GCA	WAC	-	NULL	ENSG00000095787		0.338	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	-	0.00	54	0	G	NM_100264		28879731	+1	tier1	-	no_errors	ENST00000354911	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
WDR17	116966	genome.wustl.edu	37	4	177037078	177037078	+	Silent	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:177037078C>A	ENST00000280190.4	+	4	483	c.327C>A	c.(325-327)atC>atA	p.I109I	WDR17_ENST00000508596.1_Silent_p.I85I|WDR17_ENST00000393643.2_Silent_p.I85I|WDR17_ENST00000507824.2_Silent_p.I109I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	109										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTTAGTGATCATTTGGAATG	0.308																																																	0													108.0	101.0	103.0					4																	177037078		2203	4300	6503	SO:0001819	synonymous_variant	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.327C>A	4.37:g.177037078C>A			E7EQX0|Q0QD35	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I109	ENST00000280190.4	37	c.327	CCDS3825.1	4																																																																																			WDR17	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000150627		0.308	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0.00	106	0	C			177037078	+1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	silent	16.92	54	11	SNP	1.000	A
WDR88	126248	genome.wustl.edu	37	19	33628669	33628671	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	CTA	CTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:33628669_33628671delCTA	ENST00000355868.3	+	2	439_441	c.363_365delCTA	c.(361-366)tcctat>tct	p.Y122del	WDR88_ENST00000361680.2_In_Frame_Del_p.Y122del|WDR88_ENST00000592765.1_In_Frame_Del_p.Y122del	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	122										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TCAGTGGCTCCTATGACTGCACT	0.527																																																	0																																										SO:0001651	inframe_deletion	0			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.363_365delCTA	19.37:g.33628669_33628671delCTA	ENSP00000348129:p.Tyr122del		Q8NEF8	In_Frame_Del	DEL	pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Y122in_frame_del	ENST00000355868.3	37	c.363_365	CCDS12429.1	19																																																																																			WDR88	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000166359		0.527	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR88	HGNC	protein_coding	OTTHUMT00000450840.1		0.00	60	0	CTA	NM_173479		33628671	+1	tier1		no_errors	ENST00000355868	ensembl	human	known	74_37	in_frame_del	29.41	48	20	DEL	0.996:0.980:0.968	-
WDR88	126248	genome.wustl.edu	37	19	33628674	33628674	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:33628674A>T	ENST00000355868.3	+	2	444	c.368A>T	c.(367-369)gAc>gTc	p.D123V	WDR88_ENST00000361680.2_Missense_Mutation_p.D123V|WDR88_ENST00000592765.1_Missense_Mutation_p.D123V	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	123										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGCTCCTATGACTGCACTGTG	0.527																																																	0													94.0	80.0	85.0					19																	33628674		2203	4300	6503	SO:0001583	missense	0			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.368A>T	19.37:g.33628674A>T	ENSP00000348129:p.Asp123Val		Q8NEF8	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D123V	ENST00000355868.3	37	c.368	CCDS12429.1	19	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217972	0.39201	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	D;D	0.89415	-2.51;-2.51	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.620550	0.03703	N	0.248950	D	0.97337	0.9129	H	0.98664	4.295	0.52099	D	0.999949	D	0.89917	1.0	D	0.97110	1.0	D	0.89836	0.3999	10	0.87932	D	0	.	12.2112	0.54381	1.0:0.0:0.0:0.0	.	123	Q6ZMY6	WDR88_HUMAN	V	123	ENSP00000348129:D123V;ENSP00000355148:D123V	ENSP00000348129:D123V	D	+	2	0	WDR88	38320514	1.000000	0.71417	0.756000	0.31282	0.055000	0.15305	5.422000	0.66453	1.922000	0.55676	0.454000	0.30748	GAC	WDR88	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000166359		0.527	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR88	HGNC	protein_coding	OTTHUMT00000450840.1	-	0.00	58	0	A	NM_173479		33628674	+1	tier1	-	no_errors	ENST00000355868	ensembl	human	known	74_37	missense	31.75	43	20	SNP	0.968	T
WNT8B	7479	genome.wustl.edu	37	10	102240762	102240762	+	Silent	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:102240762G>T	ENST00000343737.5	+	4	377	c.249G>T	c.(247-249)cgG>cgT	p.R83R		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	83					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TAGCCAATCGGGAGACAGCAT	0.433																																																	0													138.0	123.0	128.0					10																	102240762		2203	4300	6503	SO:0001819	synonymous_variant	0			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.249G>T	10.37:g.102240762G>T			O00771|Q5VX55|Q8WYK9	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.R83	ENST00000343737.5	37	c.249	CCDS7494.1	10																																																																																			WNT8B	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000075290		0.433	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	-	0.00	63	0	G	NM_003393		102240762	+1	tier1	-	no_errors	ENST00000343737	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.975	T
ZCWPW1	55063	genome.wustl.edu	37	7	99999532	99999532	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:99999532T>C	ENST00000398027.2	-	17	1851	c.1604A>G	c.(1603-1605)aAt>aGt	p.N535S	ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	535							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAATCTGAATTCCCTTGGCC	0.512																																																	0													114.0	113.0	113.0					7																	99999532		1928	4138	6066	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1604A>G	7.37:g.99999532T>C	ENSP00000381109:p.Asn535Ser		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW	p.N535S	ENST00000398027.2	37	c.1604	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.19|14.19	2.461635|2.461635	0.43736|0.43736	.|.	.|.	ENSG00000233389|ENSG00000078487	ENST00000449355|ENST00000398027	.|T	.|0.64085	.|-0.08	5.0|5.0	1.17|1.17	0.20885|0.20885	.|.	.|.	.|.	.|.	.|.	T|T	0.41488|0.41488	0.1161|0.1161	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.34103	.|0.437;0.437	.|B;B	.|0.27380	.|0.079;0.079	T|T	0.15150|0.15150	-1.0447|-1.0447	5|8	.|.	.|.	.|.	-0.3901|-0.3901	5.3889|5.3889	0.16234|0.16234	0.0:0.0909:0.3471:0.5619|0.0:0.0909:0.3471:0.5619	.|.	.|496;535	.|B4DXS7;Q9H0M4	.|.;ZCPW1_HUMAN	L|S	84|535	.|ENSP00000381109:N535S	.|.	F|N	+|-	1|2	0|0	AC005071.3|ZCWPW1	99837468|99837468	0.051000|0.051000	0.20477|0.20477	0.001000|0.001000	0.08648|0.08648	0.610000|0.610000	0.37248|0.37248	1.177000|1.177000	0.31969|0.31969	0.109000|0.109000	0.17891|0.17891	0.533000|0.533000	0.62120|0.62120	TTC|AAT	ZCWPW1	-	NULL	ENSG00000078487		0.512	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	-	0.00	53	0	T	NM_017984		99999532	-1	tier1	-	no_errors	ENST00000398027	ensembl	human	known	74_37	missense	22.22	49	14	SNP	0.002	C
ZHX1	11244	genome.wustl.edu	37	8	124268118	124268118	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:124268118C>T	ENST00000522655.1	-	3	609	c.69G>A	c.(67-69)gaG>gaA	p.E23E	ZHX1_ENST00000395571.3_Silent_p.E23E|ZHX1_ENST00000297857.2_Silent_p.E23E|ZHX1_ENST00000522595.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	23					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGATATCAACTCAAGGTCTG	0.448																																																	0													161.0	147.0	152.0					8																	124268118		2203	4300	6503	SO:0001819	synonymous_variant	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.69G>A	8.37:g.124268118C>T			Q8IWD8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.E23	ENST00000522655.1	37	c.69	CCDS6342.1	8																																																																																			ZHX1	-	NULL	ENSG00000165156		0.448	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	-	0.00	66	0	C			124268118	-1	tier1	-	no_errors	ENST00000297857	ensembl	human	known	74_37	silent	21.79	61	17	SNP	0.218	T
ZMIZ1	57178	genome.wustl.edu	37	10	81056113	81056113	+	Intron	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:81056113G>A	ENST00000334512.5	+	13	1802				ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1						artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TTGTGGGTGGGAAACAGCAGG	0.547																																																	0																																										SO:0001627	intron_variant	0			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1231-115G>A	10.37:g.81056113G>A			Q5JSH9|Q7Z7E6	RNA	SNP	-	NULL	ENST00000334512.5	37	NULL	CCDS7357.1	10																																																																																			ZMIZ1	-	-	ENSG00000108175		0.547	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	-	0.00	116	0	G	NM_020338		81056113	+1	tier1	-	no_errors	ENST00000478357	ensembl	human	known	74_37	rna	8.91	92	9	SNP	0.000	A
ZMYND12	84217	genome.wustl.edu	37	1	42900953	42900953	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:42900953G>T	ENST00000372565.3	-	6	1090	c.821C>A	c.(820-822)aCt>aAt	p.T274N	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Missense_Mutation_p.T164N	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	274						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCCAAGCCAGTGTCATTCTC	0.463																																																	0													222.0	203.0	210.0					1																	42900953		2203	4300	6503	SO:0001583	missense	0			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.821C>A	1.37:g.42900953G>T	ENSP00000361646:p.Thr274Asn		Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.T274N	ENST00000372565.3	37	c.821	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854642	0.51376	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.50813	0.73;0.89	5.05	5.05	0.67936	.	0.356445	0.30126	N	0.010346	T	0.35248	0.0925	L	0.42245	1.32	0.38283	D	0.942483	B;P	0.36599	0.124;0.56	B;B	0.28638	0.064;0.092	T	0.24657	-1.0154	10	0.18276	T	0.48	-18.8565	14.0942	0.65010	0.0:0.0:1.0:0.0	.	164;274	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	N	274;164	ENSP00000361646:T274N;ENSP00000398340:T164N	ENSP00000361646:T274N	T	-	2	0	ZMYND12	42673540	0.998000	0.40836	1.000000	0.80357	0.682000	0.39822	4.177000	0.58276	2.789000	0.95967	0.655000	0.94253	ACT	ZMYND12	-	NULL	ENSG00000066185		0.463	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1	-	0.00	79	0	G	NM_032257		42900953	-1	tier1	-	no_errors	ENST00000372565	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
ZNF107	51427	genome.wustl.edu	37	7	64167664	64167664	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:64167664T>A	ENST00000395391.1	+	4	2357	c.982T>A	c.(982-984)Tac>Aac	p.Y328N	ZNF107_ENST00000423627.1_Missense_Mutation_p.Y328N|ZNF107_ENST00000344930.3_Missense_Mutation_p.Y328N			Q9UII5	ZN107_HUMAN	zinc finger protein 107	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAGAAACCCTACAAATGTGA	0.348																																																	0													30.0	33.0	32.0					7																	64167664		2177	4272	6449	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.982T>A	7.37:g.64167664T>A	ENSP00000378789:p.Tyr328Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y328N	ENST00000395391.1	37	c.982	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	15.17	2.754529	0.49362	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.34859	1.34;1.34;1.34	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34395	0.0896	M	0.82923	2.615	0.31687	N	0.642408	P	0.41748	0.761	B	0.34242	0.178	T	0.46261	-0.9204	8	.	.	.	.	6.2392	0.20780	0.0:0.0:0.0:1.0	.	328	Q9UII5	ZN107_HUMAN	N	328	ENSP00000343443:Y328N;ENSP00000400037:Y328N;ENSP00000378789:Y328N	.	Y	+	1	0	ZNF107	63805099	0.000000	0.05858	0.011000	0.14972	0.147000	0.21601	0.754000	0.26390	0.530000	0.28619	0.260000	0.18958	TAC	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	-	0.00	95	0	T	NM_016220		64167664	+1	tier1	-	no_errors	ENST00000344930	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.946	A
ZNF268	10795	genome.wustl.edu	37	12	133778764	133778764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:133778764G>A	ENST00000536435.2	+	6	822	c.492G>A	c.(490-492)tgG>tgA	p.W164*	ZNF268_ENST00000228289.5_Nonsense_Mutation_p.W164*|ZNF268_ENST00000536899.2_Missense_Mutation_p.G23D|CTD-2140B24.4_ENST00000540096.2_3'UTR|ZNF268_ENST00000542711.2_Missense_Mutation_p.G55D|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000539248.2_Missense_Mutation_p.G90D|ZNF268_ENST00000416488.1_3'UTR|ZNF268_ENST00000541211.2_Missense_Mutation_p.G122D|ZNF268_ENST00000592241.1_3'UTR|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.W3*|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	164					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTATGGATTGGCATCAGGAAA	0.358																																																	0													56.0	57.0	56.0					12																	133778764		1858	4093	5951	SO:0001587	stop_gained	0			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.492G>A	12.37:g.133778764G>A	ENSP00000444412:p.Trp164*		Q8TDG8|Q96RH4|Q9BZJ9	Nonsense_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.W164*	ENST00000536435.2	37	c.492	CCDS45012.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.636723|2.636723	0.47049|0.47049	.|.	.|.	ENSG00000090612|ENSG00000090612	ENST00000536435;ENST00000542711;ENST00000536899|ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	.|.	.|.	.|.	3.69|3.69	2.8|2.8	0.32819|0.32819	.|.	.|.	.|.	.|.	.|.	T|.	0.58337|.	0.2115|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53753|.	-0.8394|.	4|.	.|.	.|.	.|.	.|.	8.9993|8.9993	0.36072|0.36072	0.112:0.0:0.888:0.0|0.112:0.0:0.888:0.0	.|.	.|.	.|.	.|.	D|X	122;55;23|164;164;3;3	.|.	.|.	G|W	+|+	2|3	0|0	ZNF268|ZNF268	132288837|132288837	0.049000|0.049000	0.20398|0.20398	0.091000|0.091000	0.20842|0.20842	0.109000|0.109000	0.19521|0.19521	1.729000|1.729000	0.38115|0.38115	0.904000|0.904000	0.36572|0.36572	0.632000|0.632000	0.83419|0.83419	GGC|TGG	ZNF268	-	NULL	ENSG00000090612		0.358	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2	-	0.00	81	0	G	NM_152943		133778764	+1	tier1	-	no_errors	ENST00000228289	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	0.107	A
ZNF343	79175	genome.wustl.edu	37	20	2464928	2464928	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:2464928C>A	ENST00000278772.4	-	6	1166	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AAGCCTTTGTCTAGCTGCACA	0.468																																																	0													112.0	111.0	111.0					20																	2464928		2203	4300	6503	SO:0001583	missense	0			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.679G>T	20.37:g.2464928C>A	ENSP00000278772:p.Asp227Tyr		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	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.D227Y	ENST00000278772.4	37	c.679	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393683	0.25205	.	.	ENSG00000088876	ENST00000278772	T	0.08634	3.07	3.21	2.15	0.27550	.	.	.	.	.	T	0.14098	0.0341	L	0.46157	1.445	0.09310	N	0.999999	D	0.57899	0.981	P	0.55667	0.781	T	0.12041	-1.0563	9	0.35671	T	0.21	.	8.5734	0.33583	0.0:0.6139:0.3861:0.0	.	227	Q6P1L6	ZN343_HUMAN	Y	227	ENSP00000278772:D227Y	ENSP00000278772:D227Y	D	-	1	0	ZNF343	2412928	0.000000	0.05858	0.037000	0.18230	0.021000	0.10359	-0.977000	0.03782	1.826000	0.53198	0.543000	0.68304	GAC	ZNF343	-	NULL	ENSG00000088876		0.468	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	HGNC	protein_coding	OTTHUMT00000077617.1	-	0.00	89	0	C	NM_024325		2464928	-1	tier1	-	no_errors	ENST00000278772	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.025	A
ZNF367	195828	genome.wustl.edu	37	9	99157146	99157147	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:99157146_99157147delCG	ENST00000375256.4	-	3	945_946	c.649_650delCG	c.(649-651)cgtfs	p.R217fs		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	217					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GGTGTGAAGACGCTGATGTGTT	0.386																																																	0																																										SO:0001589	frameshift_variant	0			AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.649_650delCG	9.37:g.99157146_99157147delCG	ENSP00000364405:p.Arg217fs		Q6Q7C8	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R217fs	ENST00000375256.4	37	c.650_649	CCDS6718.1	9																																																																																			ZNF367	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000165244		0.386	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF367	HGNC	protein_coding	OTTHUMT00000053266.1		0.00	164	0	CG			99157147	-1	tier1		no_errors	ENST00000375256	ensembl	human	known	74_37	frame_shift_del	55.69	74	93	DEL	1.000:1.000	-
ZNF383	163087	genome.wustl.edu	37	19	37733516	37733516	+	Silent	SNP	C	C	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:37733516C>T	ENST00000589413.1	+	8	961	c.378C>T	c.(376-378)caC>caT	p.H126H	ZNF383_ENST00000352998.3_Silent_p.H126H|ZNF383_ENST00000590503.1_Silent_p.H126H			Q8NA42	ZN383_HUMAN	zinc finger protein 383	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATAGAAGCCACCTTGCAAAAC	0.383																																																	0													110.0	121.0	118.0					19																	37733516		2203	4300	6503	SO:0001819	synonymous_variant	0			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.378C>T	19.37:g.37733516C>T			Q6X2C7	Silent	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.H126	ENST00000589413.1	37	c.378	CCDS12501.1	19																																																																																			ZNF383	-	NULL	ENSG00000188283		0.383	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	-	0.00	87	0	C	NM_152604		37733516	+1	tier1	-	no_errors	ENST00000352998	ensembl	human	known	74_37	silent	30.77	54	24	SNP	0.001	T
ZNF423	23090	genome.wustl.edu	37	16	49671717	49671717	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:49671717G>A	ENST00000561648.1	-	4	1399	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	ZNF423_ENST00000562871.1_Missense_Mutation_p.S389F|ZNF423_ENST00000563137.2_Missense_Mutation_p.S389F|ZNF423_ENST00000535559.1_Missense_Mutation_p.S332F|ZNF423_ENST00000567169.1_Missense_Mutation_p.S332F|ZNF423_ENST00000262383.2_Missense_Mutation_p.S449F|ZNF423_ENST00000562520.1_Missense_Mutation_p.S389F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	449					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGGGCATGGAGTCCAGGCA	0.572																																																	0													148.0	128.0	135.0					16																	49671717		2198	4300	6498	SO:0001583	missense	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1346C>T	16.37:g.49671717G>A	ENSP00000455426:p.Ser449Phe		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S449F	ENST00000561648.1	37	c.1346	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998943	0.35226	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.30448	1.53;1.53	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.165528	0.53938	D	0.000044	T	0.24314	0.0589	N	0.14661	0.345	0.38698	D	0.952924	P	0.41159	0.74	B	0.42771	0.397	T	0.07927	-1.0747	9	.	.	.	.	18.4335	0.90634	0.0:0.0:1.0:0.0	.	449	Q2M1K9	ZN423_HUMAN	F	449;332	ENSP00000262383:S449F;ENSP00000442321:S332F	.	S	-	2	0	ZNF423	48229218	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.430000	0.73391	2.346000	0.79739	0.561000	0.74099	TCC	ZNF423	-	smart_Znf_C2H2-like	ENSG00000102935		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0.00	75	0	G	NM_015069		49671717	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	46.03	34	29	SNP	1.000	A
ZNF536	9745	genome.wustl.edu	37	19	31040156	31040156	+	Silent	SNP	G	G	A			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:31040156G>A	ENST00000355537.3	+	4	3777	c.3630G>A	c.(3628-3630)caG>caA	p.Q1210Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1210					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCCTGCAGCCCACAGGCA	0.597																																																	0													52.0	50.0	51.0					19																	31040156		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3630G>A	19.37:g.31040156G>A			A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1210	ENST00000355537.3	37	c.3630	CCDS32984.1	19																																																																																			ZNF536	-	NULL	ENSG00000198597		0.597	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0.00	82	0	G	NM_014717		31040156	+1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	silent	36.73	31	18	SNP	0.940	A
ZNF571	51276	genome.wustl.edu	37	19	38074877	38074877	+	Nonsense_Mutation	SNP	G	G	C			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:38074877G>C	ENST00000328550.2	-	3	230	c.131C>G	c.(130-132)tCa>tGa	p.S44*	ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000590751.1_Nonsense_Mutation_p.S44*|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Nonsense_Mutation_p.S44*|ZNF571_ENST00000451802.2_Nonsense_Mutation_p.S44*|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Nonsense_Mutation_p.S44*|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTACCCAATGAGATCAGGTT	0.448																																																	0													177.0	162.0	167.0					19																	38074877		2203	4300	6503	SO:0001587	stop_gained	0			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.131C>G	19.37:g.38074877G>C	ENSP00000333660:p.Ser44*		Q2HIY0|Q3ZCU3|Q9NZX7	Nonsense_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.S44*	ENST00000328550.2	37	c.131	CCDS12505.1	19	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000809	0.93227	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	.	.	.	3.09	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.1272	0.31005	0.1305:0.0:0.8695:0.0	.	.	.	.	X	44	.	ENSP00000333660:S44X	S	-	2	0	ZNF571	42766717	0.240000	0.23847	0.699000	0.30290	0.964000	0.63967	1.539000	0.36104	1.561000	0.49584	0.460000	0.39030	TCA	ZNF571	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000180479		0.448	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000458669.1	-	0.00	122	0	G	NM_016536		38074877	-1	tier1	-	no_errors	ENST00000328550	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.760	C
ZNF71	58491	genome.wustl.edu	37	19	57133293	57133293	+	Missense_Mutation	SNP	C	C	A	rs199560535		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:57133293C>A	ENST00000328070.6	+	3	872	c.638C>A	c.(637-639)cCg>cAg	p.P213Q		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	213					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGCGAGAAGCCGTATGTGTGC	0.657																																																	0													50.0	43.0	45.0					19																	57133293		2203	4300	6503	SO:0001583	missense	0			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.638C>A	19.37:g.57133293C>A	ENSP00000328245:p.Pro213Gln		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P213Q	ENST00000328070.6	37	c.638	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579398	0.46006	.	.	ENSG00000197951	ENST00000328070	T	0.17213	2.29	3.47	2.44	0.29823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39064	0.1064	M	0.76002	2.32	0.28917	N	0.892366	D	0.89917	1.0	D	0.91635	0.999	T	0.17410	-1.0370	9	0.87932	D	0	.	9.5694	0.39418	0.0:0.893:0.0:0.107	.	213	Q9NQZ8	ZNF71_HUMAN	Q	213	ENSP00000328245:P213Q	ENSP00000328245:P213Q	P	+	2	0	ZNF71	61825105	0.880000	0.30214	0.674000	0.29902	0.383000	0.30230	3.151000	0.50670	0.673000	0.31224	0.561000	0.74099	CCG	ZNF71	-	pfscan_Znf_C2H2	ENSG00000197951		0.657	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2		0.00	66	0	C	NM_021216		57133293	+1			no_errors	ENST00000328070	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.975	A
ZNF831	128611	genome.wustl.edu	37	20	57767371	57767371	+	Missense_Mutation	SNP	G	G	A	rs200797810		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:57767371G>A	ENST00000371030.2	+	1	1297	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	433							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGGAAGACCGGGCTGTCCAA	0.657																																																	0								G	ARG/GLY	1,4117		0,1,2058	24.0	31.0	29.0		1297	3.3	0.1	20		29	0,8360		0,0,4180	yes	missense	ZNF831	NM_178457.1	125	0,1,6238	AA,AG,GG		0.0,0.0243,0.0080	possibly-damaging	433/1678	57767371	1,12477	2059	4180	6239	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1297G>A	20.37:g.57767371G>A	ENSP00000360069:p.Gly433Arg		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G433R	ENST00000371030.2	37	c.1297	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825086	0.32237	2.43E-4	0.0	ENSG00000124203	ENST00000371030	T	0.11385	2.78	5.54	3.35	0.38373	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	P	0.44986	0.847	B	0.31442	0.13	T	0.30621	-0.9972	9	0.48119	T	0.1	-8.4679	8.3622	0.32365	0.1069:0.0:0.7354:0.1577	.	433	Q5JPB2	ZN831_HUMAN	R	433	ENSP00000360069:G433R	ENSP00000360069:G433R	G	+	1	0	ZNF831	57200766	0.519000	0.26242	0.101000	0.21167	0.987000	0.75469	2.312000	0.43726	1.312000	0.45043	0.655000	0.94253	GGG	ZNF831	-	NULL	ENSG00000124203		0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0.00	63	0	G	NM_178457		57767371	+1	tier1	rs200797810	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	13.84	137	22	SNP	0.002	A
ZNF85	7639	genome.wustl.edu	37	19	21132093	21132093	+	Missense_Mutation	SNP	A	A	G	rs566341045		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:21132093A>G	ENST00000328178.8	+	4	886	c.773A>G	c.(772-774)tAc>tGc	p.Y258C	ZNF85_ENST00000601023.1_Missense_Mutation_p.Y199C|ZNF85_ENST00000345030.6_Missense_Mutation_p.Y225C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	258					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCCTACAAATGTGAA	0.353																																																	0													26.0	29.0	28.0					19																	21132093		2167	4270	6437	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.773A>G	19.37:g.21132093A>G	ENSP00000329793:p.Tyr258Cys		B9ZVP4|Q6NVI0	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.Y258C	ENST00000328178.8	37	c.773	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	5.368	0.253135	0.10185	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45677	0.1354	M	0.81497	2.545	0.09310	N	0.99999	P;D;D	0.89917	0.878;1.0;0.997	B;D;D	0.91635	0.408;0.999;0.982	T	0.20538	-1.0272	9	0.72032	D	0.01	.	4.4182	0.11466	0.3802:0.0:0.0:0.6198	.	225;199;258	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	258;225;133	ENSP00000329793:Y258C;ENSP00000342340:Y225C	ENSP00000329793:Y258C	Y	+	2	0	ZNF85	20923933	0.000000	0.05858	0.133000	0.22050	0.208000	0.24298	-0.760000	0.04756	0.569000	0.29329	0.379000	0.24179	TAC	ZNF85	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105750		0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	-	0.00	86	0	A	NM_003429		21132093	+1	tier1	-	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	8.04	103	9	SNP	0.029	G
ZNF852	285346	genome.wustl.edu	37	3	44540815	44540815	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:44540815T>G	ENST00000436261.1	-	4	1614	c.1454A>C	c.(1453-1455)cAc>cCc	p.H485P	ZNF852_ENST00000489411.1_5'Flank			Q6ZMS4	ZN852_HUMAN	zinc finger protein 852	485						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|lung(5)	8						GACTCTCTGGTGCACAGTAAG	0.438																																																	0																																										SO:0001583	missense	0			BC014381		3p21.32	2013-01-08			ENSG00000178917	ENSG00000178917		"""Zinc fingers, C2H2-type"", ""-"""	27713	protein-coding gene	gene with protein product							Standard	NM_001287349		Approved		uc011azx.2	Q6ZMS4	OTTHUMG00000156453	ENST00000436261.1:c.1454A>C	3.37:g.44540815T>G	ENSP00000389841:p.His485Pro		B4DLD7	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.H485P	ENST00000436261.1	37	c.1454		3	.	.	.	.	.	.	.	.	.	.	T	15.20	2.764010	0.49574	.	.	ENSG00000178917	ENST00000436261;ENST00000313378	T	0.60797	0.16	2.77	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73257	0.3564	.	.	.	0.40501	D	0.980646	D	0.76494	0.999	D	0.87578	0.998	T	0.77056	-0.2729	8	0.87932	D	0	.	10.6348	0.45558	0.0:0.0:0.0:1.0	.	451	Q6ZMS4	ZN852_HUMAN	P	485	ENSP00000389841:H485P	ENSP00000322569:H485P	H	-	2	0	ZNF852	44515819	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	5.865000	0.69583	1.521000	0.48983	0.254000	0.18369	CAC	ZNF852	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178917		0.438	ZNF852-001	KNOWN	basic|appris_principal	protein_coding	ZNF852	HGNC	protein_coding	OTTHUMT00000344244.1	-	0.00	88	0	T	XM_001717402		44540815	-1	tier1	-	no_errors	ENST00000436261	ensembl	human	known	74_37	missense	54.62	54	65	SNP	1.000	G
ZSCAN1	284312	genome.wustl.edu	37	19	58549514	58549514	+	Nonsense_Mutation	SNP	C	C	T	rs376247688		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:58549514C>T	ENST00000282326.1	+	3	557	c.310C>T	c.(310-312)Cga>Tga	p.R104*	ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.R104*|ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.R104*	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	104	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACAGGGCCCCCGAAGCTGCAG	0.701																																																	0													11.0	12.0	12.0					19																	58549514		2173	4260	6433	SO:0001587	stop_gained	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.310C>T	19.37:g.58549514C>T	ENSP00000282326:p.Arg104*		Q3B798|Q6WLH8|Q86WS8	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R104*	ENST00000282326.1	37	c.310	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.938946	0.97948	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	.	.	.	2.21	-4.41	0.03590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	6.3515	0.21379	0.1918:0.2349:0.5734:0.0	.	.	.	.	X	104	.	ENSP00000282326:R104X	R	+	1	2	ZSCAN1	63241326	0.000000	0.05858	0.000000	0.03702	0.772000	0.43724	-0.153000	0.10144	-0.700000	0.05070	0.393000	0.25936	CGA	ZSCAN1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000152467		0.701	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0.00	67	0	C	NM_182572		58549514	+1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	nonsense	17.24	24	5	SNP	0.000	T
ZSCAN23	222696	genome.wustl.edu	37	6	28402448	28402448	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:28402448G>T	ENST00000289788.4	-	4	1109	c.964C>A	c.(964-966)Cat>Aat	p.H322N	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	322					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						CTGAGGTGATGGAAAAGCCCG	0.502																																																	0													67.0	61.0	63.0					6																	28402448		692	1591	2283	SO:0001583	missense	0			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.964C>A	6.37:g.28402448G>T	ENSP00000289788:p.His322Asn		Q96KV9	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H322N	ENST00000289788.4	37	c.964	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	G	13.02	2.110910	0.37242	.	.	ENSG00000187987	ENST00000289788	T	0.07114	3.22	3.93	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000919	T	0.01029	0.0034	N	0.01742	-0.745	0.09310	N	1	B	0.25850	0.136	B	0.30179	0.112	T	0.48768	-0.9006	10	0.29301	T	0.29	.	6.842	0.23967	0.0:0.1911:0.6125:0.1964	.	322	Q3MJ62	ZSC23_HUMAN	N	322	ENSP00000289788:H322N	ENSP00000289788:H322N	H	-	1	0	ZSCAN23	28510427	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.738000	0.04871	2.007000	0.58848	0.650000	0.86243	CAT	ZSCAN23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187987		0.502	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2		0.00	55	0	G	XM_167147		28402448	-1			no_errors	ENST00000289788	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.001	T
