#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
AARS	16	genome.wustl.edu	37	16	70316635	70316635	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:70316635C>T	ENST00000261772.8	-	2	175	c.32G>A	c.(31-33)cGg>cAg	p.R11Q		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		AAATCGCTGCCGGATTTCACT	0.408																																																	0													142.0	136.0	138.0					16																	70316635		2198	4300	6498	SO:0001583	missense	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.32G>A	16.37:g.70316635C>T	ENSP00000261772:p.Arg11Gln			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R11Q	ENST00000261772.8	37	c.32	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.813160	0.96975	.	.	ENSG00000090861	ENST00000261772	T	0.79247	-1.25	5.56	5.56	0.83823	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95445	0.8529	10	0.87932	D	0	-17.2969	17.027	0.86450	0.0:1.0:0.0:0.0	.	11	P49588	SYAC_HUMAN	Q	11	ENSP00000261772:R11Q	ENSP00000261772:R11Q	R	-	2	0	AARS	68874136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.584000	0.82572	2.608000	0.88229	0.591000	0.81541	CGG	AARS	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000090861		0.408	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2		0.00	59	0	C	NM_001605		70316635	-1			no_errors	ENST00000261772	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
ABHD12	26090	genome.wustl.edu	37	20	25295561	25295561	+	Splice_Site	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:25295561C>T	ENST00000339157.5	-	6	891	c.619G>A	c.(619-621)Ggt>Agt	p.G207S	ABHD12_ENST00000376542.3_Splice_Site_p.G207S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	207					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GAAATCTCACCTCTGTAGTCA	0.488																																																	0													140.0	126.0	131.0					20																	25295561		2203	4300	6503	SO:0001630	splice_region_variant	0			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.619+1G>A	20.37:g.25295561C>T			A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_3	p.G207S	ENST00000339157.5	37	c.619	CCDS42857.1	20	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040016	0.93630	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543;ENST00000450393	T;T;T	0.63913	0.72;-0.07;0.72	4.73	4.73	0.59995	.	0.097819	0.64402	D	0.000001	D	0.83445	0.5256	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87211	0.2247	9	.	.	.	-15.3819	17.5811	0.87968	0.0:1.0:0.0:0.0	.	162;207;207	Q5T712;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	S	207;207;169;162	ENSP00000365725:G207S;ENSP00000341408:G207S;ENSP00000413311:G162S	.	G	-	1	0	ABHD12	25243561	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.117000	0.77129	2.474000	0.83562	0.556000	0.70494	GGT	ABHD12	-	pfam_AB_hydrolase_1,pfam_AB_hydrolase_3	ENSG00000100997		0.488	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD12	HGNC	protein_coding	OTTHUMT00000078423.2	-	0.00	78	0	C	NM_015600	Missense_Mutation	25295561	-1	tier1	-	no_errors	ENST00000376542	ensembl	human	known	74_37	missense	14.29	66	11	SNP	1.000	T
ACOX2	8309	genome.wustl.edu	37	3	58520773	58520773	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:58520773C>T	ENST00000302819.5	-	2	352	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ACOX2_ENST00000459701.2_Missense_Mutation_p.D21N	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	21					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCTCTATGTCGGGGTGCATT	0.552																																																	0													289.0	254.0	266.0					3																	58520773		2203	4300	6503	SO:0001583	missense	0			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.61G>A	3.37:g.58520773C>T	ENSP00000307697:p.Asp21Asn		A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.D21N	ENST00000302819.5	37	c.61	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721916	0.68959	.	.	ENSG00000168306	ENST00000459701;ENST00000302819;ENST00000474098	T;T;T	0.63417	-0.04;-0.04;-0.04	4.54	4.54	0.55810	Acyl-CoA dehydrogenase/oxidase (1);	0.156450	0.43110	D	0.000618	T	0.80929	0.4718	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.84729	0.0744	10	0.87932	D	0	-7.4745	15.6427	0.77020	0.0:1.0:0.0:0.0	.	21	Q99424	ACOX2_HUMAN	N	21	ENSP00000418562:D21N;ENSP00000307697:D21N;ENSP00000419927:D21N	ENSP00000307697:D21N	D	-	1	0	ACOX2	58495813	0.989000	0.36119	0.984000	0.44739	0.086000	0.17979	2.922000	0.48860	2.526000	0.85167	0.563000	0.77884	GAC	ACOX2	-	superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	ENSG00000168306		0.552	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	-	0.00	110	0	C			58520773	-1	tier1	-	no_errors	ENST00000302819	ensembl	human	known	74_37	missense	23.68	58	18	SNP	0.997	T
ACTR10	55860	genome.wustl.edu	37	14	58690395	58690395	+	Missense_Mutation	SNP	A	A	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:58690395A>C	ENST00000254286.4	+	9	770	c.690A>C	c.(688-690)aaA>aaC	p.K230N		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	230					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AAGCAGCAAAATTTAATATTG	0.308																																																	0													69.0	69.0	69.0					14																	58690395		2203	4300	6503	SO:0001583	missense	0			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.690A>C	14.37:g.58690395A>C	ENSP00000254286:p.Lys230Asn		Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.K230N	ENST00000254286.4	37	c.690	CCDS32090.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.22|15.22	2.767820|2.767820	0.49574|0.49574	.|.	.|.	ENSG00000131966|ENSG00000131966	ENST00000554642|ENST00000543474;ENST00000254286	.|D	.|0.94457	.|-3.43	5.88|5.88	3.45|3.45	0.39498|0.39498	.|.	.|0.044427	.|0.85682	.|D	.|0.000000	D|D	0.92912|0.92912	0.7745|0.7745	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999995|0.999995	.|P;P	.|0.47841	.|0.901;0.81	.|P;B	.|0.49332	.|0.607;0.327	D|D	0.91912|0.91912	0.5540|0.5540	5|10	.|0.72032	.|D	.|0.01	-13.043|-13.043	9.1901|9.1901	0.37193|0.37193	0.7849:0.0:0.2151:0.0|0.7849:0.0:0.2151:0.0	.|.	.|230;230	.|Q53H79;Q9NZ32	.|.;ARP10_HUMAN	L|N	14|230	.|ENSP00000254286:K230N	.|ENSP00000254286:K230N	I|K	+|+	1|3	0|2	ACTR10|ACTR10	57760148|57760148	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.639000|0.639000	0.24690|0.24690	1.008000|1.008000	0.39264|0.39264	0.533000|0.533000	0.62120|0.62120	ATT|AAA	ACTR10	-	pfam_Actin-related,smart_Actin-related	ENSG00000131966		0.308	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ACTR10	HGNC	protein_coding	OTTHUMT00000411405.1	-	0.00	93	0	A			58690395	+1	tier1	-	no_errors	ENST00000254286	ensembl	human	known	74_37	missense	10.92	106	13	SNP	1.000	C
AGAP7P	653268	genome.wustl.edu	37	10	51465318	51465318	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:51465318G>T	ENST00000374095.5	-	7	1263	c.1138C>A	c.(1138-1140)Cta>Ata	p.L380I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		380	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.L380I(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TTCTTCTTTAGGTGTTTCTTT	0.527																																																	1	Substitution - Missense(1)	lung(1)											25.0	32.0	30.0					10																	51465318		1772	3791	5563	SO:0001583	missense	0																														ENST00000374095.5:c.1138C>A	10.37:g.51465318G>T	ENSP00000363208:p.Leu380Ile		A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.L380I	ENST00000374095.5	37	c.1138	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	9.166	1.020019	0.19433	.	.	ENSG00000204169	ENST00000374095	T	0.75589	-0.95	.	.	.	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.287711	0.32120	N	0.006551	T	0.66771	0.2823	L	0.39898	1.24	0.22656	N	0.998887	P	0.43973	0.823	P	0.48063	0.565	T	0.58864	-0.7561	9	0.56958	D	0.05	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	380	Q5VUJ5	AGAP7_HUMAN	I	380	ENSP00000363208:L380I	ENSP00000363208:L380I	L	-	1	2	AGAP7	51135324	0.989000	0.36119	0.022000	0.16811	0.022000	0.10575	1.540000	0.36115	0.172000	0.19760	0.175000	0.17021	CTA	AGAP7	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000204169		0.527	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	-	0.00	243	0	G			51465318	-1	tier1	-	no_errors	ENST00000374095	ensembl	human	known	74_37	missense	19.74	244	60	SNP	1.000	T
AGBL1	123624	genome.wustl.edu	37	15	86822894	86822894	+	Silent	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:86822894T>C	ENST00000441037.2	+	15	2057	c.1962T>C	c.(1960-1962)gcT>gcC	p.A654A	AGBL1_ENST00000389298.3_Silent_p.A385A|AGBL1_ENST00000421325.2_Silent_p.A654A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	654					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGAGTACAGCTGTTGCAGGCG	0.522																																																	0													125.0	125.0	125.0					15																	86822894		2061	4208	6269	SO:0001819	synonymous_variant	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1962T>C	15.37:g.86822894T>C			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.A654	ENST00000441037.2	37	c.1962	CCDS58398.1	15																																																																																			AGBL1	-	NULL	ENSG00000166748		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5		0.00	73	0	T	NM_152336		86822894	+1			no_errors	ENST00000441037	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.006	C
AGPS	8540	genome.wustl.edu	37	2	178305725	178305725	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:178305725C>G	ENST00000264167.4	+	6	816	c.670C>G	c.(670-672)Cta>Gta	p.L224V	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	224	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GATTGTGAATCTAGCTTGCAA	0.269																																																	0													155.0	156.0	156.0					2																	178305725		2203	4296	6499	SO:0001583	missense	0			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.670C>G	2.37:g.178305725C>G	ENSP00000264167:p.Leu224Val		A5D8U9|Q2TU35	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.L224V	ENST00000264167.4	37	c.670	CCDS2275.1	2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877414	0.51801	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.96365	-3.99	5.59	2.37	0.29283	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.94879	0.8345	M	0.64997	1.995	0.80722	D	1	P	0.42123	0.771	B	0.44224	0.444	D	0.92862	0.6306	10	0.46703	T	0.11	.	11.071	0.48004	0.0:0.6999:0.0:0.3001	.	224	O00116	ADAS_HUMAN	V	224;94	ENSP00000264167:L224V	ENSP00000264167:L224V	L	+	1	2	AGPS	178013971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.781000	0.26774	0.740000	0.32651	0.650000	0.86243	CTA	AGPS	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	ENSG00000018510		0.269	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	HGNC	protein_coding	OTTHUMT00000255730.2	-	0.00	72	0	C			178305725	+1	tier1	-	no_errors	ENST00000264167	ensembl	human	known	74_37	missense	28.72	67	27	SNP	1.000	G
AHNAK2	113146	genome.wustl.edu	37	14	105404547	105404547	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:105404547C>G	ENST00000333244.5	-	7	17360	c.17241G>C	c.(17239-17241)gaG>gaC	p.E5747D	AHNAK2_ENST00000557457.1_Missense_Mutation_p.E745D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5747						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGTTCACCCTCTTCCTTCT	0.517																																																	0													50.0	52.0	51.0					14																	105404547		1945	4134	6079	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.17241G>C	14.37:g.105404547C>G	ENSP00000353114:p.Glu5747Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E5747D	ENST00000333244.5	37	c.17241	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730617	0.48939	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03607	3.87;3.97	4.71	-9.42	0.00610	.	0.736341	0.11279	N	0.580576	T	0.03095	0.0091	L	0.48642	1.525	0.09310	N	1	P	0.40332	0.713	B	0.39562	0.303	T	0.02333	-1.1175	10	0.15499	T	0.54	.	11.4867	0.50358	0.0:0.56:0.349:0.091	.	5747	Q8IVF2	AHNK2_HUMAN	D	745;5747	ENSP00000450998:E745D;ENSP00000353114:E5747D	ENSP00000353114:E5747D	E	-	3	2	AHNAK2	104475592	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-4.847000	0.00178	-2.605000	0.00448	-0.469000	0.05056	GAG	AHNAK2	-	NULL	ENSG00000185567		0.517	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0.00	85	0	C	NM_138420		105404547	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	10.48	94	11	SNP	0.000	G
ALOX12	239	genome.wustl.edu	37	17	6909289	6909289	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:6909289G>A	ENST00000251535.6	+	10	1414	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	454	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GGCCTGCTGGGACTCCCAGGT	0.642																																																	0													62.0	61.0	62.0					17																	6909289		2203	4300	6503	SO:0001583	missense	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1361G>A	17.37:g.6909289G>A	ENSP00000251535:p.Gly454Glu		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.G454E	ENST00000251535.6	37	c.1361	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152131	0.38021	.	.	ENSG00000108839	ENST00000251535	T	0.06528	3.29	5.3	4.31	0.51392	Lipoxygenase, C-terminal (3);	0.326098	0.32640	N	0.005830	T	0.08891	0.0220	M	0.64630	1.985	0.29504	N	0.854721	B	0.15930	0.015	B	0.21360	0.034	T	0.02596	-1.1136	10	0.30078	T	0.28	-1.4764	12.2023	0.54333	0.085:0.0:0.9149:0.0	.	454	P18054	LOX12_HUMAN	E	454	ENSP00000251535:G454E	ENSP00000251535:G454E	G	+	2	0	ALOX12	6850013	0.751000	0.28327	1.000000	0.80357	0.933000	0.57130	0.686000	0.25392	2.763000	0.94921	0.585000	0.79938	GGA	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000108839		0.642	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	-	0.00	85	0	G			6909289	+1	tier1	-	no_errors	ENST00000251535	ensembl	human	known	74_37	missense	10.64	84	10	SNP	0.981	A
ANKRD11	29123	genome.wustl.edu	37	16	89348761	89348762	+	Silent	DNP	GG	GG	AA			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:89348761_89348762GG>AA	ENST00000301030.4	-	9	4648_4649	c.4188_4189CC>TT	c.(4186-4191)ttCCtg>ttTTtg	p.1396_1397FL>FL	ANKRD11_ENST00000378330.2_Silent_p.1396_1397FL>FL	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1396	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCGCCTCCAGGAAGTCCTTTT	0.46																																																	0																																										SO:0001819	synonymous_variant	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4188_4189delinsAA	16.37:g.89348761_89348762delinsAA			Q6NTG1|Q6QMF8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1397|p.F1396	ENST00000301030.4	37	c.4189|c.4188	CCDS32513.1	16																																																																																			ANKRD11	-	NULL	ENSG00000167522		0.460	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0.00	24|25	0	G	NM_013275		89348761|89348762	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.230|0.618	A
ANKRD11	29123	genome.wustl.edu	37	16	89348979	89348979	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:89348979G>C	ENST00000301030.4	-	9	4431	c.3971C>G	c.(3970-3972)tCt>tGt	p.S1324C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1324C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1324	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCCGTGAAAGAGACCTCCAG	0.582																																																	0													38.0	39.0	39.0					16																	89348979		2198	4299	6497	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3971C>G	16.37:g.89348979G>C	ENSP00000301030:p.Ser1324Cys		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S1324C	ENST00000301030.4	37	c.3971	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741864	0.30865	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.51325	0.71;0.71	5.21	5.21	0.72293	.	0.484210	0.22246	N	0.062606	T	0.64316	0.2587	M	0.67953	2.075	0.53688	D	0.999974	D	0.71674	0.998	P	0.57324	0.818	T	0.68062	-0.5508	10	0.87932	D	0	.	18.7133	0.91666	0.0:0.0:1.0:0.0	.	1324	Q6UB99	ANR11_HUMAN	C	1324	ENSP00000301030:S1324C;ENSP00000367581:S1324C	ENSP00000301030:S1324C	S	-	2	0	ANKRD11	87876480	0.998000	0.40836	0.044000	0.18714	0.062000	0.15995	5.689000	0.68234	2.577000	0.86979	0.563000	0.77884	TCT	ANKRD11	-	NULL	ENSG00000167522		0.582	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0.00	40	0	G	NM_013275		89348979	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	missense	15.79	48	9	SNP	0.033	C
ANKRD34C	390616	genome.wustl.edu	37	15	79586827	79586827	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:79586827G>A	ENST00000558647.2	+	1	1201	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R	ANKRD34C_ENST00000421388.2_Missense_Mutation_p.G401R			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	401										endometrium(3)|kidney(1)|skin(1)	5						ATCCGGCAAAGGACCTTTAGA	0.512																																																	0													51.0	48.0	49.0					15																	79586827		685	1584	2269	SO:0001583	missense	0				CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.1201G>A	15.37:g.79586827G>A	ENSP00000454921:p.Gly401Arg		H3BNM1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G401R	ENST00000558647.2	37	c.1201	CCDS53965.1	15	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840972	0.32513	.	.	ENSG00000235711	ENST00000421388	T	0.17528	2.27	4.5	3.55	0.40652	.	.	.	.	.	T	0.09069	0.0224	N	0.08118	0	0.30708	N	0.749531	P	0.41041	0.736	B	0.36186	0.219	T	0.05517	-1.0880	9	0.56958	D	0.05	.	11.3572	0.49623	0.0:0.0:0.8172:0.1828	.	401	P0C6C1	AN34C_HUMAN	R	401	ENSP00000401089:G401R	ENSP00000401089:G401R	G	+	1	0	ANKRD34C	77373882	0.961000	0.32948	0.579000	0.28588	0.126000	0.20510	1.535000	0.36061	1.051000	0.40369	0.655000	0.94253	GGA	ANKRD34C	-	NULL	ENSG00000235711		0.512	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34C	HGNC	protein_coding	OTTHUMT00000416713.2		0.00	44	0	G	NM_001146341		79586827	+1			no_errors	ENST00000421388	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.996	A
ANKRD36BP2	645784	genome.wustl.edu	37	2	89102984	89102984	+	RNA	DEL	T	T	-	rs148885194		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:89102984delT	ENST00000393525.3	+	0	3458									ankyrin repeat domain 36B pseudogene 2																		TATATGAATATGGACAGTTAG	0.343																																																	0																																												0					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89102984delT				RNA	DEL	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-	ENSG00000230006		0.343	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1		0.00	10	0	T			89102984	+1			no_errors	ENST00000393525	ensembl	human	known	74_37	rna	33.33	6	3	DEL	0.999	0
ANKRD36	375248	genome.wustl.edu	37	2	97845601	97845601	+	Missense_Mutation	SNP	A	A	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:97845601A>T	ENST00000461153.2	+	24	1910	c.1666A>T	c.(1666-1668)Aca>Tca	p.T556S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T556S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	556										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGACGA	0.323																																																	0																																										SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1666A>T	2.37:g.97845601A>T	ENSP00000419530:p.Thr556Ser		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T556S	ENST00000461153.2	37	c.1666	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.77	1.736804	0.30774	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.75477	-0.94;-0.94	1.17	-1.53	0.08611	.	.	.	.	.	T	0.76198	0.3954	L	0.42245	1.32	0.09310	N	1	P;D	0.63880	0.819;0.993	B;D	0.77557	0.213;0.99	T	0.63994	-0.6511	9	0.72032	D	0.01	.	4.2899	0.10872	0.4925:0.0:0.5075:0.0	.	556;23	A6QL64;Q5JPF3-3	AN36A_HUMAN;.	S	556	ENSP00000419530:T556S;ENSP00000391950:T556S	ENSP00000391950:T556S	T	+	1	0	ANKRD36	97209328	0.000000	0.05858	0.006000	0.13384	0.051000	0.14879	-0.250000	0.08830	-0.482000	0.06782	0.155000	0.16302	ACA	ANKRD36	-	NULL	ENSG00000135976		0.323	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0.00	184	0	A			97845601	+1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	missense	9.62	263	28	SNP	0.008	T
ARHGAP21	57584	genome.wustl.edu	37	10	24959283	24959283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:24959283G>T	ENST00000396432.2	-	3	593	c.107C>A	c.(106-108)tCa>tAa	p.S36*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	35					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCAGACAGTGATACAGTTTC	0.318																																																	0													133.0	116.0	121.0					10																	24959283		2203	4300	6503	SO:0001587	stop_gained	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.107C>A	10.37:g.24959283G>T	ENSP00000379709:p.Ser36*		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S36*	ENST00000396432.2	37	c.107	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	37	6.376764	0.97515	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0741	0.93151	0.0:0.0:1.0:0.0	.	.	.	.	X	36;35;36;36;25	.	ENSP00000365592:S36X	S	-	2	0	ARHGAP21	24999289	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.959000	0.76031	2.554000	0.86153	0.650000	0.86243	TCA	ARHGAP21	-	NULL	ENSG00000107863		0.318	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0.00	87	0	G	NM_020824		24959283	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	nonsense	10.75	83	10	SNP	1.000	T
ARHGAP24	83478	genome.wustl.edu	37	4	86916190	86916190	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:86916190G>A	ENST00000395184.1	+	9	1849	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	ARHGAP24_ENST00000395183.2_Silent_p.R366R|ARHGAP24_ENST00000264343.4_Silent_p.R368R	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	461					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGGCCAGAAGGAGCTCTTCAC	0.522																																																	0													59.0	64.0	62.0					4																	86916190		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1383G>A	4.37:g.86916190G>A			Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R461	ENST00000395184.1	37	c.1383	CCDS34025.1	4																																																																																			ARHGAP24	-	NULL	ENSG00000138639		0.522	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	-	0.00	61	0	G	NM_031305		86916190	+1	tier1	-	no_errors	ENST00000395184	ensembl	human	known	74_37	silent	21.82	43	12	SNP	1.000	A
ARHGAP25	9938	genome.wustl.edu	37	2	69002786	69002786	+	Intron	SNP	G	G	A	rs552316656		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:69002786G>A	ENST00000295381.3	+	2	680				ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000544262.1_Intron|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000409220.1_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000497079.1_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCTACACATGGCTCTGAGTC	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19484	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.261+234G>A	2.37:g.69002786G>A			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	NULL	p.G76S	ENST00000295381.3	37	c.226		2																																																																																			ARHGAP25	-	NULL	ENSG00000163219		0.498	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding		-	0.00	82	0	G	NM_014882		69002786	+1	tier1	-	no_errors	ENST00000473986	ensembl	human	known	74_37	missense	6.56	114	8	SNP	0.000	A
ARHGAP25	9938	genome.wustl.edu	37	2	69015070	69015070	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:69015070G>A	ENST00000295381.3	+	4	867	c.448G>A	c.(448-450)Gct>Act	p.A150T	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A143T|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.A124T|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.A150T|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.A143T|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.A143T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	150	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAGGAGAGTTGCTGGCACACC	0.547																																																	0													76.0	71.0	73.0					2																	69015070		2203	4300	6503	SO:0001583	missense	0			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.448G>A	2.37:g.69015070G>A	ENSP00000295381:p.Ala150Thr		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.A150T	ENST00000295381.3	37	c.448		2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726363	0.48833	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.78	2.52	0.30459	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.441395	0.25922	N	0.027430	T	0.06645	0.0170	N	0.13327	0.33	0.33787	D	0.624987	B;B;B;B;B;B	0.14438	0.01;0.001;0.003;0.003;0.01;0.001	B;B;B;B;B;B	0.23018	0.043;0.002;0.004;0.004;0.009;0.008	T	0.29671	-1.0004	10	0.12103	T	0.63	.	6.8698	0.24115	0.0898:0.0:0.6009:0.3093	.	124;150;143;143;143;150	B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	T	124;150;150;143;143;143;143;134	ENSP00000439917:A124T;ENSP00000295381:A150T;ENSP00000386911:A150T;ENSP00000386863:A143T;ENSP00000386241:A143T;ENSP00000417139:A143T	ENSP00000295381:A150T	A	+	1	0	ARHGAP25	68868574	0.906000	0.30813	0.986000	0.45419	0.982000	0.71751	1.180000	0.32005	0.765000	0.33221	0.467000	0.42956	GCT	ARHGAP25	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000163219		0.547	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding			0.00	76	0	G	NM_014882		69015070	+1			no_errors	ENST00000409202	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.925	A
ARHGEF18	23370	genome.wustl.edu	37	19	7505303	7505303	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:7505303G>A	ENST00000359920.6	+	1	730	c.477G>A	c.(475-477)atG>atA	p.M159I	ARHGEF18_ENST00000319670.9_Start_Codon_SNP_p.M1I|CTD-2207O23.3_ENST00000593531.1_Silent_p.*117*	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	159					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ATGTCGGTATGACGGTCTCTC	0.672																																																	0													50.0	46.0	47.0					19																	7505303		2203	4300	6503	SO:0001583	missense	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.477G>A	19.37:g.7505303G>A	ENSP00000352995:p.Met159Ile		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.M159I	ENST00000359920.6	37	c.477	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976061	0.74360	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.34859	1.38;1.34	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	T	0.39436	0.1078	L	0.36672	1.1	0.80722	D	1	P	0.35383	0.498	B	0.42738	0.396	T	0.33471	-0.9867	10	0.87932	D	0	-35.8851	16.758	0.85505	0.0:0.0:1.0:0.0	.	159	Q6ZSZ5	ARHGI_HUMAN	I	1;159	ENSP00000319200:M1I;ENSP00000352995:M159I	ENSP00000319200:M1I	M	+	3	0	ARHGEF18	7411303	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.409000	0.73289	2.548000	0.85928	0.561000	0.74099	ATG	ARHGEF18	-	NULL	ENSG00000104880		0.672	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1		0.00	45	0	G	NM_015318		7505303	+1			no_errors	ENST00000359920	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	A
ARID4A	5926	genome.wustl.edu	37	14	58796860	58796860	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:58796860G>T	ENST00000355431.3	+	11	1252	c.879G>T	c.(877-879)aaG>aaT	p.K293N	ARID4A_ENST00000348476.3_Missense_Mutation_p.K293N|ARID4A_ENST00000395168.3_Missense_Mutation_p.K293N|ARID4A_ENST00000431317.2_Missense_Mutation_p.K293N	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	293					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAAGGAAAAGGAGGCCAAAA	0.343																																																	0													102.0	96.0	98.0					14																	58796860		2203	4300	6503	SO:0001583	missense	0			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.879G>T	14.37:g.58796860G>T	ENSP00000347602:p.Lys293Asn		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.K293N	ENST00000355431.3	37	c.879	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799188	0.50208	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.15834	2.4;2.39;2.41;2.39	6.07	0.648	0.17801	ARID/BRIGHT DNA-binding domain (1);	0.712351	0.14510	N	0.315151	T	0.18923	0.0454	L	0.56769	1.78	0.44927	D	0.997945	P;B;B	0.36282	0.546;0.041;0.016	B;B;B	0.38755	0.281;0.064;0.016	T	0.05402	-1.0887	10	0.45353	T	0.12	-4.8475	10.6315	0.45538	0.4787:0.0:0.5213:0.0	.	293;293;293	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	N	293;293;293;256;293	ENSP00000347602:K293N;ENSP00000344556:K293N;ENSP00000378597:K293N;ENSP00000397368:K293N	ENSP00000344556:K293N	K	+	3	2	ARID4A	57866613	0.984000	0.35163	0.998000	0.56505	0.995000	0.86356	0.214000	0.17541	0.095000	0.17434	0.655000	0.94253	AAG	ARID4A	-	superfamily_ARID/BRIGHT_DNA-bd	ENSG00000032219		0.343	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	-	0.00	46	0	G	NM_023001		58796860	+1	tier1	-	no_errors	ENST00000355431	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
ARID4B	51742	genome.wustl.edu	37	1	235357397	235357397	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:235357397C>G	ENST00000264183.3	-	19	2553	c.2056G>C	c.(2056-2058)Gat>Cat	p.D686H	ARID4B_ENST00000366603.2_Missense_Mutation_p.D686H|ARID4B_ENST00000349213.3_Missense_Mutation_p.D600H	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	686					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTTGGCATCAGTGAGATCC	0.378																																																	0													176.0	167.0	170.0					1																	235357397		2203	4300	6503	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2056G>C	1.37:g.235357397C>G	ENSP00000264183:p.Asp686His		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D686H	ENST00000264183.3	37	c.2056	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554673	0.86231	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.25250	1.85;1.81;1.81	5.22	5.22	0.72569	Chromo domain-like (1);	0.196102	0.53938	D	0.000048	T	0.30854	0.0778	N	0.14661	0.345	0.47584	D	0.999464	D;P;D;P	0.63880	0.98;0.937;0.993;0.895	P;P;P;P	0.58873	0.789;0.694;0.847;0.498	T	0.07195	-1.0785	9	.	.	.	-23.877	19.1448	0.93461	0.0:1.0:0.0:0.0	.	367;686;600;686	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	H	686;600;686;686	ENSP00000264184:D600H;ENSP00000355562:D686H;ENSP00000264183:D686H	.	D	-	1	0	ARID4B	233424020	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.557000	0.73937	2.596000	0.87737	0.555000	0.69702	GAT	ARID4B	-	superfamily_Chromodomain-like	ENSG00000054267		0.378	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	-	0.00	110	0	C	NM_016374		235357397	-1	tier1	-	no_errors	ENST00000264183	ensembl	human	known	74_37	missense	7.97	127	11	SNP	1.000	G
ARL10	285598	genome.wustl.edu	37	5	175795982	175795982	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:175795982G>C	ENST00000310389.5	+	3	654	c.558G>C	c.(556-558)aaG>aaC	p.K186N	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	186					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGGCCAACAAGCAGGTGAGGG	0.662																																																	0													41.0	41.0	41.0					5																	175795982		2203	4300	6503	SO:0001583	missense	0			BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.558G>C	5.37:g.175795982G>C	ENSP00000308496:p.Lys186Asn			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	p.K186N	ENST00000310389.5	37	c.558	CCDS4400.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.93|11.93	1.784578|1.784578	0.31593|0.31593	.|.	.|.	ENSG00000175414|ENSG00000175414	ENST00000514533|ENST00000310389;ENST00000503175	.|D	.|0.90844	.|-2.74	5.16|5.16	3.23|3.23	0.37069|0.37069	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96546|0.96546	0.8873|0.8873	H|H	0.97732|0.97732	4.065|4.065	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	D|D	0.96462|0.96462	0.9342|0.9342	5|10	.|0.87932	.|D	.|0	-43.8773|-43.8773	10.2727|10.2727	0.43491|0.43491	0.2268:0.0:0.7732:0.0|0.2268:0.0:0.7732:0.0	.|.	.|186;186	.|Q8N8L6;Q6PCE2	.|ARL10_HUMAN;.	P|N	44|186;11	.|ENSP00000308496:K186N	.|ENSP00000308496:K186N	A|K	+|+	1|3	0|2	ARL10|ARL10	175728588|175728588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	1.503000|1.503000	0.35715|0.35715	1.405000|1.405000	0.46838|0.46838	0.655000|0.655000	0.94253|0.94253	GCA|AAG	ARL10	-	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF	ENSG00000175414		0.662	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL10	HGNC	protein_coding	OTTHUMT00000253145.2	-	0.00	161	0	G	NM_173664		175795982	+1	tier1	-	no_errors	ENST00000310389	ensembl	human	known	74_37	missense	19.44	116	28	SNP	1.000	C
ARMC8	25852	genome.wustl.edu	37	3	137928707	137928707	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:137928707G>C	ENST00000469044.1	+	2	365	c.94G>C	c.(94-96)Gat>Cat	p.D32H	ARMC8_ENST00000491704.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.D32H|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000489213.1_Intron|ARMC8_ENST00000481646.1_Missense_Mutation_p.D18H|ARMC8_ENST00000393058.3_Missense_Mutation_p.D22H|ARMC8_ENST00000358441.2_Missense_Mutation_p.D18H|ARMC8_ENST00000538260.1_Missense_Mutation_p.D32H|ARMC8_ENST00000470821.1_Missense_Mutation_p.D32H|ARMC8_ENST00000471453.1_Missense_Mutation_p.D18H	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	32										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATTTGACCCTGATCCCCAGAA	0.368																																																	0													86.0	86.0	86.0					3																	137928707		2203	4300	6503	SO:0001583	missense	0				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.94G>C	3.37:g.137928707G>C	ENSP00000419413:p.Asp32His		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D32H	ENST00000469044.1	37	c.94		3	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709285	0.89018	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000461600;ENST00000358441;ENST00000461822;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058;ENST00000468560	T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;0.3;0.3;0.92;0.3;0.3;0.41;0.92;-0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.82458	0.5041	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.986;0.98;0.986;0.987	D	0.83450	0.0048	10	0.87932	D	0	-14.9952	17.534	0.87822	0.0:0.0:1.0:0.0	.	32;32;18;18	B7Z441;F5GWK4;Q8IUR7-2;Q8IUR7-6	.;.;.;.	H	18;32;32;18;32;18;32;32;32;22;18	ENSP00000420333:D18H;ENSP00000419413:D32H;ENSP00000418074:D32H;ENSP00000351221:D18H;ENSP00000420706:D32H;ENSP00000420440:D18H;ENSP00000418405:D32H;ENSP00000420719:D32H;ENSP00000441592:D32H;ENSP00000376778:D22H	ENSP00000351221:D18H	D	+	1	0	ARMC8	139411397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.924000	0.75823	2.750000	0.94351	0.563000	0.77884	GAT	ARMC8	-	superfamily_ARM-type_fold	ENSG00000114098		0.368	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	-	0.00	66	0	G	NM_015396		137928707	+1	tier1	-	no_errors	ENST00000469044	ensembl	human	known	74_37	missense	9.09	80	8	SNP	1.000	C
ASB11	140456	genome.wustl.edu	37	X	15320924	15320924	+	Missense_Mutation	SNP	A	A	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:15320924A>C	ENST00000480796.1	-	2	237	c.187T>G	c.(187-189)Tgg>Ggg	p.W63G	ASB11_ENST00000344384.4_Missense_Mutation_p.W42G|ASB11_ENST00000537676.1_Missense_Mutation_p.W42G|ASB11_ENST00000380470.3_Missense_Mutation_p.W63G			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	63					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CGATCAGCCCAGCAATCTGAA	0.488																																																	0													84.0	74.0	78.0					X																	15320924		2203	4300	6503	SO:0001583	missense	0			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.187T>G	X.37:g.15320924A>C	ENSP00000417914:p.Trp63Gly		E9PEN1|Q3SYC4|Q7Z667	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.W63G	ENST00000480796.1	37	c.187	CCDS14164.1	X	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845793	0.71603	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.69	5.69	0.88448	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000007	T	0.62454	0.2429	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.76494	0.982;0.997;0.999	P;D;D	0.80764	0.852;0.986;0.994	T	0.59161	-0.7506	10	0.14252	T	0.57	-10.1457	13.6886	0.62531	1.0:0.0:0.0:0.0	.	63;63;42	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	G	42;63;42;63	ENSP00000445465:W42G;ENSP00000369837:W63G;ENSP00000343408:W42G;ENSP00000417914:W63G	ENSP00000343408:W42G	W	-	1	0	ASB11	15230845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.598000	0.82745	1.912000	0.55364	0.486000	0.48141	TGG	ASB11	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000165192		0.488	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB11	HGNC	protein_coding	OTTHUMT00000055852.2	-	0.00	53	0	A			15320924	-1	tier1	-	no_errors	ENST00000480796	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	C
ASTN2	23245	genome.wustl.edu	37	9	119976864	119976864	+	Missense_Mutation	SNP	T	T	G	rs146556453		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:119976864T>G	ENST00000313400.4	-	3	888	c.788A>C	c.(787-789)cAg>cCg	p.Q263P	ASTN2_ENST00000361209.2_Missense_Mutation_p.Q263P|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.Q263P			O75129	ASTN2_HUMAN	astrotactin 2	263					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						CTCCCGCGCCTGGGGACCCAG	0.602																																																	0													81.0	72.0	75.0					9																	119976864		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.788A>C	9.37:g.119976864T>G	ENSP00000314038:p.Gln263Pro		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.Q263P	ENST00000313400.4	37	c.788		9	.	.	.	.	.	.	.	.	.	.	T	14.22	2.470793	0.43942	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.11821	2.79;2.79;2.74	5.51	4.36	0.52297	.	0.078621	0.51477	N	0.000089	T	0.07638	0.0192	N	0.14661	0.345	0.50813	D	0.999891	B;B;P	0.35456	0.002;0.0;0.502	B;B;B	0.31751	0.002;0.0;0.135	T	0.39078	-0.9631	9	.	.	.	-13.0618	11.2967	0.49282	0.0:0.0:0.2912:0.7088	.	263;263;263	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	P	263	ENSP00000314038:Q263P;ENSP00000363108:Q263P;ENSP00000354504:Q263P	.	Q	-	2	0	ASTN2	119016685	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.028000	0.64115	0.913000	0.36797	0.533000	0.62120	CAG	ASTN2	-	NULL	ENSG00000148219		0.602	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0.00	36	0	T	NM_014010		119976864	-1	tier1	-	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	40.00	21	14	SNP	1.000	G
ASXL1	171023	genome.wustl.edu	37	20	31017787	31017787	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:31017787A>G	ENST00000375687.4	+	8	1073	c.649A>G	c.(649-651)Att>Gtt	p.I217V	ASXL1_ENST00000306058.5_Missense_Mutation_p.I212V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	217	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGCGCTGCTATTCGTGGCCA	0.672			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													20.0	24.0	23.0					20																	31017787		2174	4255	6429	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.649A>G	20.37:g.31017787A>G	ENSP00000364839:p.Ile217Val		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.I217V	ENST00000375687.4	37	c.649	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043271	0.36085	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000306058	T;T	0.12879	2.64;2.64	4.89	4.89	0.63831	.	0.287924	0.30068	N	0.010497	T	0.06826	0.0174	N	0.19112	0.55	0.23851	N	0.996665	B	0.23316	0.083	B	0.19148	0.024	T	0.35992	-0.9766	10	0.13108	T	0.6	-4.1839	4.4859	0.11790	0.7381:0.0:0.0899:0.172	.	217	Q8IXJ9	ASXL1_HUMAN	V	217;217;217;212	ENSP00000364839:I217V;ENSP00000305119:I212V	ENSP00000305119:I212V	I	+	1	0	ASXL1	30481448	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.094000	0.30951	2.192000	0.70111	0.533000	0.62120	ATT	ASXL1	-	NULL	ENSG00000171456		0.672	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0.00	42	0	A	NM_015338		31017787	+1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	G
ATE1	11101	genome.wustl.edu	37	10	123659471	123659471	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:123659471G>C	ENST00000224652.6	-	7	937	c.852C>G	c.(850-852)ttC>ttG	p.F284L	ATE1_ENST00000369040.3_Intron|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000543447.1_Missense_Mutation_p.F169L	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	284					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GTGTGGCTTTGAACTGCGAAC	0.428																																																	0													131.0	120.0	123.0					10																	123659471		2203	4300	6503	SO:0001583	missense	0			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.852C>G	10.37:g.123659471G>C	ENSP00000224652:p.Phe284Leu		O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk	p.F284L	ENST00000224652.6	37	c.852	CCDS31300.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.219374|5.219374	0.95139|0.95139	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000224652;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	T|T	0.81555|0.81555	0.4847|0.4847	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|T	0.80703|0.80703	-0.1264|-0.1264	8|5	0.45353|.	T|.	0.12|.	.|.	19.9813|19.9813	0.97326|0.97326	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	284|.	O95260|.	ATE1_HUMAN|.	L|E	284;169|281	.|.	ENSP00000224652:F284L|.	F|Q	-|-	3|1	2|0	ATE1|ATE1	123649461|123649461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.827000|9.827000	0.99397|0.99397	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	TTC|CAA	ATE1	-	pirsf_Arg-tRNA-P_Trfase_1_euk	ENSG00000107669		0.428	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATE1	HGNC	protein_coding		-	0.00	46	0	G	NM_001001976		123659471	-1	tier1	-	no_errors	ENST00000224652	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	C
ATP1A3	478	genome.wustl.edu	37	19	42492278	42492278	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:42492278C>T	ENST00000302102.5	-	4	317	c.167G>A	c.(166-168)aGc>aAc	p.S56N	ATP1A3_ENST00000543770.1_Missense_Mutation_p.S67N|ATP1A3_ENST00000545399.1_Missense_Mutation_p.S69N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S26N|ATP1A3_ENST00000468774.2_5'UTR	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	56					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTGGGCTTTGCTGTGGGTCAA	0.632																																																	0													82.0	85.0	84.0					19																	42492278		2203	4300	6503	SO:0001583	missense	0				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.167G>A	19.37:g.42492278C>T	ENSP00000302397:p.Ser56Asn		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.S56N	ENST00000302102.5	37	c.167	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666077	0.47677	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	4.52	3.44	0.39384	ATPase, P-type cation-transporter, N-terminal (2);	0.437153	0.25040	N	0.033616	T	0.80385	0.4613	L	0.55990	1.75	0.34235	D	0.676978	B;B;B;B	0.28880	0.001;0.027;0.226;0.034	B;B;B;B	0.40677	0.007;0.079;0.337;0.129	T	0.83082	-0.0137	10	0.41790	T	0.15	.	12.3262	0.55011	0.0:0.8275:0.1725:0.0	.	69;67;56;56	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	N	56;56;69;26;67;69	ENSP00000302397:S56N;ENSP00000411503:S56N;ENSP00000444688:S69N;ENSP00000437577:S67N	ENSP00000302397:S56N	S	-	2	0	ATP1A3	47184118	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.023000	0.49666	0.987000	0.38709	0.491000	0.48974	AGC	ATP1A3	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105409		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1		0.00	110	0	C	NM_152296		42492278	-1			no_errors	ENST00000302102	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
ATP9A	10079	genome.wustl.edu	37	20	50235275	50235275	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:50235275C>A	ENST00000338821.5	-	21	2540	c.2276G>T	c.(2275-2277)cGa>cTa	p.R759L	ATP9A_ENST00000402822.1_Missense_Mutation_p.R638L|ATP9A_ENST00000311637.5_Missense_Mutation_p.R623L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	759					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGGGGCACATCGGCAGCAGAC	0.632																																																	0													38.0	40.0	39.0					20																	50235275		2203	4299	6502	SO:0001583	missense	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2276G>T	20.37:g.50235275C>A	ENSP00000342481:p.Arg759Leu		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R759L	ENST00000338821.5	37	c.2276	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.395018	0.96009	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.79554	-1.28;-1.28;-1.28	5.35	5.35	0.76521	HAD-like domain (2);	0.049540	0.85682	N	0.000000	D	0.94272	0.8160	H	0.98276	4.19	0.80722	D	1	B;D	0.89917	0.397;1.0	B;D	0.91635	0.103;0.999	D	0.96468	0.9346	10	0.87932	D	0	-32.6966	19.0663	0.93113	0.0:1.0:0.0:0.0	.	638;759	O75110-2;O75110	.;ATP9A_HUMAN	L	623;759;638	ENSP00000309086:R623L;ENSP00000342481:R759L;ENSP00000385875:R638L	ENSP00000309086:R623L	R	-	2	0	ATP9A	49668682	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.454000	0.80714	2.493000	0.84123	0.655000	0.94253	CGA	ATP9A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000054793		0.632	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0.00	88	0	C	NM_006045		50235275	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	A
BAHCC1	57597	genome.wustl.edu	37	17	79409094	79409094	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:79409094C>T	ENST00000307745.7	+	9	719	c.719C>T	c.(718-720)gCg>gTg	p.A240V																								GAGCGGCCAGCGGCAGAGGAG	0.716																																																	0													10.0	15.0	14.0					17																	79409094		2088	4161	6249	SO:0001583	missense	0																														ENST00000307745.7:c.719C>T	17.37:g.79409094C>T	ENSP00000303486:p.Ala240Val			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A240V	ENST00000307745.7	37	c.719		17	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.965979	0.00461	.	.	ENSG00000171282	ENST00000307745	T	0.11604	2.76	3.2	-2.08	0.07254	.	.	.	.	.	T	0.03220	0.0094	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44982	-0.9292	9	0.20046	T	0.44	.	2.8797	0.05644	0.1988:0.4203:0.0:0.3809	.	240	Q9P281	BAHC1_HUMAN	V	240	ENSP00000303486:A240V	ENSP00000303486:A240V	A	+	2	0	AC110285.1	77023689	0.000000	0.05858	0.001000	0.08648	0.386000	0.30323	-1.455000	0.02379	-0.111000	0.12001	-0.701000	0.03672	GCG	RP11-1055B8.7	-	NULL	ENSG00000171282		0.716	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding			0.00	43	0	C			79409094	+1			no_errors	ENST00000307745	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	T
BDP1	55814	genome.wustl.edu	37	5	70809019	70809019	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:70809019C>G	ENST00000358731.4	+	19	4518	c.4255C>G	c.(4255-4257)Ctt>Gtt	p.L1419V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1419					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGCAAATCTCTTCCTCAAGA	0.423																																																	0													62.0	59.0	60.0					5																	70809019		1827	4082	5909	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4255C>G	5.37:g.70809019C>G	ENSP00000351575:p.Leu1419Val		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.L1419V	ENST00000358731.4	37	c.4255	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297971	0.60086	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.25579	1.79	4.38	4.38	0.52667	.	0.156358	0.30464	N	0.009561	T	0.43678	0.1258	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.994	T	0.28138	-1.0053	10	0.54805	T	0.06	.	13.1583	0.59531	0.0:1.0:0.0:0.0	.	1419;1419	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	V	1419;999	ENSP00000351575:L1419V	ENSP00000351575:L1419V	L	+	1	0	BDP1	70844775	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	1.483000	0.35497	2.387000	0.81309	0.484000	0.47621	CTT	BDP1	-	NULL	ENSG00000145734		0.423	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0.00	102	0	C	NM_018429		70809019	+1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	7.84	94	8	SNP	1.000	G
BEND7	222389	genome.wustl.edu	37	10	13485270	13485270	+	Intron	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:13485270G>A	ENST00000396900.2	-	9	1234				BEND7_ENST00000341083.3_Intron|BEND7_ENST00000378605.3_Intron|BEND7_ENST00000486542.1_Intron|BEND7_ENST00000396898.2_Intron			Q8N7W2	BEND7_HUMAN	BEN domain containing 7							extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AACCTGAAATGCTACGTGGAT	0.398																																																	0																																										SO:0001627	intron_variant	0			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1235-3773C>T	10.37:g.13485270G>A			Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	RNA	SNP	-	NULL	ENST00000396900.2	37	NULL		10																																																																																			BEND7	-	-	ENSG00000165626		0.398	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		-	0.00	65	0	G	NM_152751		13485270	-1	tier1	-	no_errors	ENST00000480703	ensembl	human	known	74_37	rna	11.94	59	8	SNP	0.913	A
BIRC6	57448	genome.wustl.edu	37	2	32689617	32689617	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:32689617C>T	ENST00000421745.2	+	25	5116	c.4982C>T	c.(4981-4983)gCa>gTa	p.A1661V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1661	Poly-Ala.				apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A1661V(1)|p.A1633V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					Acaacagctgcagcagctgca	0.458																																					Pancreas(94;175 1509 16028 18060 45422)												2	Substitution - Missense(2)	lung(2)											55.0	52.0	53.0					2																	32689617		2203	4299	6502	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4982C>T	2.37:g.32689617C>T	ENSP00000393596:p.Ala1661Val		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A1661V	ENST00000421745.2	37	c.4982	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	35	5.504397	0.96371	.	.	ENSG00000115760	ENST00000421745	T	0.75050	-0.9	5.93	5.93	0.95920	.	0.129398	0.51477	D	0.000093	D	0.83667	0.5304	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.81373	-0.0962	10	0.41790	T	0.15	.	19.9472	0.97186	0.0:1.0:0.0:0.0	.	1661	Q9NR09	BIRC6_HUMAN	V	1661	ENSP00000393596:A1661V	ENSP00000393596:A1661V	A	+	2	0	BIRC6	32543121	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GCA	BIRC6	-	NULL	ENSG00000115760		0.458	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0.00	68	0	C	NM_016252		32689617	+1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
BMP1	649	genome.wustl.edu	37	8	22049619	22049620	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:22049619_22049620delTA	ENST00000306385.5	+	9	1805_1806	c.1135_1136delTA	c.(1135-1137)tatfs	p.Y379fs	BMP1_ENST00000397814.3_Frame_Shift_Del_p.Y379fs|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Frame_Shift_Del_p.Y379fs|BMP1_ENST00000397816.3_Frame_Shift_Del_p.Y379fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	379	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGGTACGACTATGTGGAGGTC	0.614																																																	0																																										SO:0001589	frameshift_variant	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1135_1136delTA	8.37:g.22049619_22049620delTA	ENSP00000305714:p.Tyr379fs		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Del	DEL	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.Y379fs	ENST00000306385.5	37	c.1135_1136	CCDS6026.1	8																																																																																			BMP1	-	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000168487		0.614	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2		0.00	73	0	TA	NM_006132		22049620	+1	tier1		no_errors	ENST00000306385	ensembl	human	known	74_37	frame_shift_del	14.63	35	6	DEL	1.000:1.000	-
BPIFB3	359710	genome.wustl.edu	37	20	31652538	31652538	+	Missense_Mutation	SNP	C	C	T	rs201111989		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:31652538C>T	ENST00000375494.3	+	8	811	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	271					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCCAAGGTGCCCCCCAAGAA	0.587																																																	0								C	SER/PRO	0,4406		0,0,2203	82.0	73.0	76.0		811	4.7	1.0	20		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BPIFB3	NM_182658.1	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	271/477	31652538	1,13005	2203	4300	6503	SO:0001583	missense	0			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.811C>T	20.37:g.31652538C>T	ENSP00000364643:p.Pro271Ser		Q5TDX7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P271S	ENST00000375494.3	37	c.811	CCDS13212.1	20	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373164	0.61624	0.0	1.16E-4	ENSG00000186190	ENST00000375494	T	0.09630	2.96	4.73	4.73	0.59995	.	0.000000	0.53938	D	0.000043	T	0.33059	0.0850	M	0.77820	2.39	0.45056	D	0.998075	D	0.89917	1.0	D	0.91635	0.999	T	0.04621	-1.0938	10	0.72032	D	0.01	-20.4968	13.0653	0.59030	0.0:1.0:0.0:0.0	.	271	P59826	BPIB3_HUMAN	S	271	ENSP00000364643:P271S	ENSP00000364643:P271S	P	+	1	0	BPIFB3	31116199	0.998000	0.40836	0.993000	0.49108	0.624000	0.37722	3.597000	0.54031	2.461000	0.83175	0.655000	0.94253	CCC	BPIFB3	-	superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000186190		0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2		0.00	63	0	C	NM_182658		31652538	+1			no_errors	ENST00000375494	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.997	T
BRPF1	7862	genome.wustl.edu	37	3	9781322	9781322	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:9781322C>T	ENST00000457855.1	+	2	1250	c.1239C>T	c.(1237-1239)tgC>tgT	p.C413C	BRPF1_ENST00000383829.2_Silent_p.C413C|BRPF1_ENST00000302054.3_Silent_p.C413C|BRPF1_ENST00000424362.1_Silent_p.C413C|BRPF1_ENST00000433861.2_Silent_p.C413C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	413					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ATGTGACATGCGCCCAGCAGG	0.582																																																	0													50.0	50.0	50.0					3																	9781322		2203	4300	6503	SO:0001819	synonymous_variant	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1239C>T	3.37:g.9781322C>T			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	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,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.C413	ENST00000457855.1	37	c.1239	CCDS2575.1	3																																																																																			BRPF1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000156983		0.582	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1		0.00	39	0	C	NM_001003694		9781322	+1			no_errors	ENST00000383829	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.988	T
C15orf61	145853	genome.wustl.edu	37	15	67813772	67813772	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:67813772G>A	ENST00000342683.4	+	1	367	c.186G>A	c.(184-186)caG>caA	p.Q62Q	C15orf61_ENST00000557807.1_5'Flank|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001143936.1	NP_001137408.1	A6NNL5	CO061_HUMAN	chromosome 15 open reading frame 61	62						extracellular region (GO:0005576)											GCAACGACCAGTTCGGCCTCT	0.672																																																	0													15.0	19.0	18.0					15																	67813772		688	1588	2276	SO:0001819	synonymous_variant	0				CCDS45289.1	15q23	2012-09-27			ENSG00000189227	ENSG00000189227			34453	protein-coding gene	gene with protein product							Standard	NM_001143936		Approved	LOC145853	uc002aqs.3	A6NNL5		ENST00000342683.4:c.186G>A	15.37:g.67813772G>A			B4DFB2	Silent	SNP	NULL	p.Q62	ENST00000342683.4	37	c.186	CCDS45289.1	15																																																																																			C15orf61	-	NULL	ENSG00000189227		0.672	C15orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf61	HGNC	protein_coding	OTTHUMT00000417492.1		0.00	35	0	G	NM_001143936		67813772	+1			no_errors	ENST00000342683	ensembl	human	known	74_37	silent	13.89	31	5	SNP	1.000	A
C16orf89	146556	genome.wustl.edu	37	16	5106102	5106102	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:5106102C>T	ENST00000315997.5	-	5	916	c.715G>A	c.(715-717)Gag>Aag	p.E239K	C16orf89_ENST00000474471.3_Missense_Mutation_p.E239K|C16orf89_ENST00000472572.3_Missense_Mutation_p.E239K|C16orf89_ENST00000350219.4_Missense_Mutation_p.E277K|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.E277K	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	239						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCGATGGCCTCAGCTCTGCGG	0.577																																																	0													133.0	133.0	133.0					16																	5106102		2074	4223	6297	SO:0001583	missense	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.715G>A	16.37:g.5106102C>T	ENSP00000324672:p.Glu239Lys		B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.E277K	ENST00000315997.5	37	c.829	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307064	0.40795	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.72	4.75	0.60458	.	0.356410	0.28635	N	0.014645	T	0.26448	0.0646	M	0.72894	2.215	0.30290	N	0.790473	B;P	0.41450	0.125;0.75	B;B	0.33690	0.028;0.168	T	0.27606	-1.0069	10	0.06625	T	0.88	-8.5939	12.5997	0.56491	0.0:0.8333:0.1667:0.0	.	239;277	Q6UX73;G3V0F0	CP089_HUMAN;.	K	239;239;239;277;277;239	ENSP00000417158:E239K;ENSP00000420566:E239K;ENSP00000390402:E277K;ENSP00000283478:E277K;ENSP00000324672:E239K	ENSP00000324672:E239K	E	-	1	0	C16orf89	5046103	0.958000	0.32768	0.699000	0.30290	0.448000	0.32197	4.169000	0.58223	1.379000	0.46325	0.591000	0.81541	GAG	C16orf89	-	NULL	ENSG00000153446		0.577	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	-	0.00	87	0	C	NM_152459		5106102	-1	tier1	-	no_errors	ENST00000350219	ensembl	human	known	74_37	missense	30.91	37	17	SNP	0.774	T
C2orf42	54980	genome.wustl.edu	37	2	70377611	70377611	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:70377611C>T	ENST00000264434.2	-	10	1981	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	C2orf42_ENST00000420306.1_Silent_p.E534E	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	534										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGATCCGCAGCTCGCCAATCT	0.547																																																	0													118.0	108.0	112.0					2																	70377611		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1602G>A	2.37:g.70377611C>T			D6W5G3|Q9H629	Silent	SNP	NULL	p.E534	ENST00000264434.2	37	c.1602	CCDS1899.1	2																																																																																			C2orf42	-	NULL	ENSG00000115998		0.547	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	-	0.00	93	0	C	NM_017880		70377611	-1	tier1	-	no_errors	ENST00000264434	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T
C6orf106	64771	genome.wustl.edu	37	6	34574418	34574418	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:34574418G>C	ENST00000374023.3	-	4	1018	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	C6orf106_ENST00000374026.3_Missense_Mutation_p.Q193E|C6orf106_ENST00000374021.1_Missense_Mutation_p.Q185E	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	259										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TTCTGGTCTTGCTCAGTTTGG	0.502																																																	0													95.0	96.0	96.0					6																	34574418		2203	4300	6503	SO:0001583	missense	0			AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.775C>G	6.37:g.34574418G>C	ENSP00000363135:p.Gln259Glu		B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	superfamily_UBA-like	p.Q259E	ENST00000374023.3	37	c.775	CCDS4796.1	6	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092403	0.55968	.	.	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.18	5.18	0.71444	.	0.059814	0.64402	D	0.000002	T	0.29256	0.0728	L	0.44542	1.39	0.51012	D	0.999905	B;B	0.27656	0.184;0.002	B;B	0.26969	0.075;0.004	T	0.11641	-1.0579	9	0.07175	T	0.84	-3.8982	13.9542	0.64137	0.0:0.0:0.8482:0.1518	.	193;259	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	E	259;193;185	.	ENSP00000363133:Q185E	Q	-	1	0	C6orf106	34682396	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.108000	0.71522	2.569000	0.86673	0.561000	0.74099	CAA	C6orf106	-	NULL	ENSG00000196821		0.502	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf106	HGNC	protein_coding	OTTHUMT00000040251.1	-	0.00	121	0	G	NM_022758		34574418	-1	tier1	-	no_errors	ENST00000374023	ensembl	human	known	74_37	missense	9.80	92	10	SNP	1.000	C
C7orf66	154907	genome.wustl.edu	37	7	108524135	108524135	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:108524135C>T	ENST00000379007.2	-	2	331	c.277G>A	c.(277-279)Gca>Aca	p.A93T		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	93						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CGTAGATATGCACCTTTCACT	0.353																																																	0													180.0	157.0	165.0					7																	108524135		2203	4300	6503	SO:0001583	missense	0			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.277G>A	7.37:g.108524135C>T	ENSP00000368292:p.Ala93Thr			Missense_Mutation	SNP	NULL	p.A93T	ENST00000379007.2	37	c.277	CCDS34735.1	7	.	.	.	.	.	.	.	.	.	.	c	10.63	1.405395	0.25378	.	.	ENSG00000205174	ENST00000379007	.	.	.	2.87	-0.516	0.11950	.	.	.	.	.	T	0.15046	0.0363	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.28839	-1.0031	7	.	.	.	.	5.3515	0.16038	0.0:0.4128:0.0:0.5872	.	93	A4D0T2	CG066_HUMAN	T	93	.	.	A	-	1	0	C7orf66	108311371	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.486000	0.06513	-0.077000	0.12752	0.552000	0.68991	GCA	C7orf66	-	NULL	ENSG00000205174		0.353	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf66	HGNC	protein_coding	OTTHUMT00000337420.1	-	0.00	63	0	C	NM_001024607		108524135	-1	tier1	-	no_errors	ENST00000379007	ensembl	human	putative	74_37	missense	22.73	68	20	SNP	0.001	T
C7orf49	78996	genome.wustl.edu	37	7	134779120	134779120	+	5'UTR	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:134779120G>T	ENST00000459937.1	-	0	570				AGBL3_ENST00000436302.2_Intron|AGBL3_ENST00000435976.2_Intron|AGBL3_ENST00000458078.1_Intron			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49							cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						tcactgctgagatctgcttgt	0.438																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000459937.1:c.-2006C>A	7.37:g.134779120G>T			Q6NWZ4|Q6ZNR5	RNA	SNP	-	NULL	ENST00000459937.1	37	NULL		7																																																																																			C7orf49	-	-	ENSG00000122783		0.438	C7orf49-012	KNOWN	basic	processed_transcript	C7orf49	HGNC	protein_coding	OTTHUMT00000340153.1	-	0.00	73	0	G	NM_024033		134779120	-1	tier1	-	no_errors	ENST00000459937	ensembl	human	known	74_37	rna	6.90	54	4	SNP	0.012	T
CACNA1C	775	genome.wustl.edu	37	12	2786183	2786184	+	Intron	INS	-	-	A	rs372244578		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:2786183_2786184insA	ENST00000347598.4	+	42	4972				CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000344100.3_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTGGATGCTGAAAAAAAAAAT	0.376																																																	0																																										SO:0001627	intron_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4973-76->A	12.37:g.2786193_2786193dupA			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	RNA	INS	-	NULL	ENST00000347598.4	37	NULL	CCDS44788.1	12																																																																																			CACNA1C-AS1	-	-	ENSG00000246627		0.376	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C-AS1	HGNC	protein_coding	OTTHUMT00000317035.1		0.00	28	0	-	NM_000719		2786184	-1	tier1		no_errors	ENST00000501371	ensembl	human	known	74_37	rna	16.67	25	5	INS	0.733:0.778	A
CACNA1F	778	genome.wustl.edu	37	X	49076202	49076202	+	Missense_Mutation	SNP	C	C	G	rs59355923		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:49076202C>G	ENST00000376265.2	-	20	2528	c.2467G>C	c.(2467-2469)Gag>Cag	p.E823Q	CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E812Q|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E758Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	823	Poly-Glu.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	Ccctcttcctcttcttcctct	0.512																																																	0													166.0	122.0	137.0					X																	49076202		2200	4294	6494	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2467G>C	X.37:g.49076202C>G	ENSP00000365441:p.Glu823Gln		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E823Q	ENST00000376265.2	37	c.2467	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	2.880	-0.231989	0.05983	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.13420	2.59;2.59;2.59	.	.	.	.	0.428676	0.26075	N	0.026489	T	0.13114	0.0318	M	0.84511	2.7	0.09310	N	1	P;B	0.36144	0.539;0.182	B;B	0.20767	0.031;0.014	T	0.15521	-1.0434	8	0.39692	T	0.17	.	.	.	.	.	812;823	F5CIQ9;O60840	.;CAC1F_HUMAN	Q	758;812;823	ENSP00000365427:E758Q;ENSP00000321618:E812Q;ENSP00000365441:E823Q	ENSP00000321618:E812Q	E	-	1	0	CACNA1F	48963146	0.029000	0.19370	0.004000	0.12327	0.122000	0.20287	1.505000	0.35736	0.000000	0.14550	0.000000	0.15137	GAG	CACNA1F	-	NULL	ENSG00000102001		0.512	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1		0.00	20	0	C	NM_005183		49076202	-1			no_errors	ENST00000376265	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.008	G
CADM4	199731	genome.wustl.edu	37	19	44130331	44130331	+	Silent	SNP	G	G	A	rs199788280		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:44130331G>A	ENST00000222374.2	-	5	657	c.609C>T	c.(607-609)aaC>aaT	p.N203N	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	203	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCAGCGCCTGGTTCTGCGCCT	0.612																																																	0													146.0	104.0	119.0					19																	44130331		2203	4300	6503	SO:0001819	synonymous_variant	0			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.609C>T	19.37:g.44130331G>A			B2R7L5|Q9Y4A4	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.N203	ENST00000222374.2	37	c.609	CCDS12627.1	19																																																																																			CADM4	-	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105767		0.612	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	HGNC	protein_coding	OTTHUMT00000463352.1	-	0.00	44	0	G	NM_145296		44130331	-1	tier1	-	no_errors	ENST00000222374	ensembl	human	known	74_37	silent	13.33	39	6	SNP	1.000	A
CAPN15	6650	genome.wustl.edu	37	16	597619	597619	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:597619G>A	ENST00000219611.2	+	4	1144	c.781G>A	c.(781-783)Gag>Aag	p.E261K	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	261					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACCGGTGCCTGAGGCTGCCCA	0.731																																																	0													6.0	9.0	8.0					16																	597619		1799	3801	5600	SO:0001583	missense	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.781G>A	16.37:g.597619G>A	ENSP00000219611:p.Glu261Lys		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E261K	ENST00000219611.2	37	c.781	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	g	15.14	2.746104	0.49151	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.88431	-2.38	4.91	4.91	0.64330	.	2.234190	0.01824	N	0.034229	D	0.84946	0.5585	L	0.29908	0.895	0.37884	D	0.930485	B	0.32245	0.361	B	0.30646	0.118	T	0.60831	-0.7185	10	0.09084	T	0.74	.	15.5781	0.76408	0.0:0.0:1.0:0.0	.	261	O75808	CAN15_HUMAN	K	261	ENSP00000219611:E261K	ENSP00000219611:E261K	E	+	1	0	SOLH	537620	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	8.483000	0.90442	2.282000	0.76494	0.556000	0.70494	GAG	CAPN15	-	NULL	ENSG00000103326		0.731	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1	-	0.00	41	0	G	NM_005632		597619	+1	tier1	-	no_errors	ENST00000219611	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	A
CAPZA2	830	genome.wustl.edu	37	7	116502691	116502691	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:116502691C>G	ENST00000361183.3	+	1	165	c.26C>G	c.(25-27)tCt>tGt	p.S9C	CAPZA2_ENST00000490693.1_Missense_Mutation_p.S9C|CAPZA2_ENST00000466023.1_3'UTR|CAPZA2_ENST00000458284.2_Missense_Mutation_p.S9C	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	9					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			GAGCAGTTGTCTGATGAAGAG	0.701																																																	0													19.0	20.0	20.0					7																	116502691		2026	3980	6006	SO:0001583	missense	0				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.26C>G	7.37:g.116502691C>G	ENSP00000354947:p.Ser9Cys		B4DG50	Missense_Mutation	SNP	pfam_CapZ_alpha,prints_CapZ_alpha	p.S9C	ENST00000361183.3	37	c.26	CCDS5768.1	7	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975521	0.74360	.	.	ENSG00000198898	ENST00000361183;ENST00000458284;ENST00000490693	.	.	.	3.81	3.81	0.43845	.	0.196977	0.44483	D	0.000450	T	0.64068	0.2565	M	0.73962	2.25	0.50813	D	0.999893	P	0.51537	0.946	P	0.49829	0.623	T	0.70475	-0.4861	9	0.87932	D	0	-6.2985	11.3522	0.49594	0.0:1.0:0.0:0.0	.	9	P47755	CAZA2_HUMAN	C	9	.	ENSP00000354947:S9C	S	+	2	0	CAPZA2	116289927	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.517000	0.53443	2.096000	0.63516	0.313000	0.20887	TCT	CAPZA2	-	NULL	ENSG00000198898		0.701	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4	-	0.00	8	0	C	NM_006136		116502691	+1	tier1	-	no_errors	ENST00000361183	ensembl	human	known	74_37	missense	54.55	5	6	SNP	1.000	G
C19orf68	374920	genome.wustl.edu	37	19	48696374	48696374	+	Intron	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:48696374G>A	ENST00000328759.7	+	4	620				ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000600800.1_5'UTR			Q86XI8	CS068_HUMAN	chromosome 19 open reading frame 68						hematopoietic progenitor cell differentiation (GO:0002244)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)											GCtgagagctgatgcacgcca	0.502																																																	0																																										SO:0001627	intron_variant	0			BC043386	CCDS74411.1	19q13.32	2008-08-06			ENSG00000185453	ENSG00000185453			34495	protein-coding gene	gene with protein product						12477932	Standard	NM_199341		Approved	LOC374920	uc002pic.3	Q86XI8		ENST00000328759.7:c.589-1536G>A	19.37:g.48696374G>A				RNA	SNP	-	NULL	ENST00000328759.7	37	NULL		19																																																																																			CARD8	-	-	ENSG00000105483		0.502	C19orf68-001	KNOWN	non_canonical_other|basic|appris_principal	protein_coding	CARD8	HGNC	protein_coding	OTTHUMT00000465598.1	-	0.00	69	0	G	XM_001713770		48696374	-1	tier1	-	no_errors	ENST00000600800	ensembl	human	known	74_37	rna	7.06	79	6	SNP	0.001	A
CASKIN2	57513	genome.wustl.edu	37	17	73497977	73497977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:73497977G>A	ENST00000321617.3	-	18	3764	c.3178C>T	c.(3178-3180)Cag>Tag	p.Q1060*	CASKIN2_ENST00000433559.2_Nonsense_Mutation_p.Q978*	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1060	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGAGGCTGCATGGCGGGG	0.682																																																	0													38.0	49.0	45.0					17																	73497977		2201	4293	6494	SO:0001587	stop_gained	0			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3178C>T	17.37:g.73497977G>A	ENSP00000325355:p.Gln1060*		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.Q1060*	ENST00000321617.3	37	c.3178	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	G	43	10.206472	0.99359	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	.	.	.	5.17	3.09	0.35607	.	0.712981	0.12102	N	0.499395	.	.	.	.	.	.	0.23708	N	0.99706	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	12.749	0.57298	0.0:0.2431:0.7569:0.0	.	.	.	.	X	1060;978	.	ENSP00000325355:Q1060X	Q	-	1	0	CASKIN2	71009572	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.175000	0.16762	0.720000	0.32209	0.591000	0.81541	CAG	CASKIN2	-	NULL	ENSG00000177303		0.682	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	-	0.00	62	0	G	NM_020753		73497977	-1	tier1	-	no_errors	ENST00000321617	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	0.016	A
CASZ1	54897	genome.wustl.edu	37	1	10708141	10708141	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:10708141G>A	ENST00000377022.3	-	16	3531	c.3214C>T	c.(3214-3216)Ccg>Tcg	p.P1072S	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.P1072S	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1072					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCCGAGGCCGGAAAGGCAGCC	0.657																																																	0													27.0	22.0	24.0					1																	10708141		2180	4273	6453	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3214C>T	1.37:g.10708141G>A	ENSP00000366221:p.Pro1072Ser		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1072S	ENST00000377022.3	37	c.3214	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420235	0.25552	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.69	5.69	0.88448	.	0.111909	0.40469	N	0.001084	T	0.35278	0.0926	N	0.13043	0.29	0.35560	D	0.804594	B;B	0.23377	0.008;0.084	B;B	0.18561	0.005;0.022	T	0.40059	-0.9583	9	0.28530	T	0.3	-22.4355	13.4902	0.61390	0.0804:0.0:0.9196:0.0	.	1072;1072	Q86V15-2;Q86V15	.;CASZ1_HUMAN	S	1072	.	ENSP00000339445:P1072S	P	-	1	0	CASZ1	10630728	1.000000	0.71417	0.989000	0.46669	0.069000	0.16628	3.205000	0.51090	2.682000	0.91365	0.655000	0.94253	CCG	CASZ1	-	NULL	ENSG00000130940		0.657	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0.00	102	0	G	NM_017766		10708141	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	19.23	83	20	SNP	1.000	A
CCDC157	550631	genome.wustl.edu	37	22	30772437	30772437	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:30772437G>A	ENST00000405659.1	+	12	2671	c.1962G>A	c.(1960-1962)caG>caA	p.Q654Q	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Silent_p.Q654Q			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	654										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGGGCAGACAGCACCTTCCTA	0.622																																																	0													111.0	112.0	111.0					22																	30772437		2203	4300	6503	SO:0001819	synonymous_variant	0			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1962G>A	22.37:g.30772437G>A			Q0VD76|Q9BYA4	Silent	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.Q654	ENST00000405659.1	37	c.1962	CCDS33632.2	22																																																																																			CCDC157	-	NULL	ENSG00000187860		0.622	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	HGNC	protein_coding	OTTHUMT00000320936.1		0.00	99	0	G	NM_001017437		30772437	+1			no_errors	ENST00000338306	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.021	A
CDC23	8697	genome.wustl.edu	37	5	137534426	137534426	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:137534426G>T	ENST00000394886.2	-	7	730	c.700C>A	c.(700-702)Ctg>Atg	p.L234M		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	234					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATATGAGCCAGAAAAAACTCT	0.438																																																	0													119.0	130.0	126.0					5																	137534426		2203	4300	6503	SO:0001583	missense	0			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.700C>A	5.37:g.137534426G>T	ENSP00000378350:p.Leu234Met		A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	pfam_APC8,pfam_TPR_1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L234M	ENST00000394886.2	37	c.700	CCDS4200.2	5	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248464	0.22880	.	.	ENSG00000094880	ENST00000394886	T	0.72835	-0.69	6.07	3.97	0.46021	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.054044	0.64402	D	0.000001	T	0.51329	0.1668	N	0.16307	0.4	0.80722	D	1	B	0.17852	0.024	B	0.19946	0.027	T	0.43605	-0.9381	10	0.22109	T	0.4	-10.5685	9.6553	0.39921	0.2895:0.0:0.7105:0.0	.	234	Q9UJX2	CDC23_HUMAN	M	234	ENSP00000378350:L234M	ENSP00000378350:L234M	L	-	1	2	CDC23	137562325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.300000	0.43620	1.549000	0.49425	0.655000	0.94253	CTG	CDC23	-	pfscan_TPR-contain_dom	ENSG00000094880		0.438	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC23	HGNC	protein_coding	OTTHUMT00000251275.2		0.00	43	0	G			137534426	-1			no_errors	ENST00000394886	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
CELP	1057	genome.wustl.edu	37	9	135962591	135962593	+	RNA	DEL	TGT	TGT	-	rs11243995	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:135962591_135962593delTGT	ENST00000411440.2	+	0	1098_1100					NR_001275.2				carboxyl ester lipase pseudogene																		AGGCTGCCCCTGTGTCCCCCACA	0.626																																																	0																																												0			L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962591_135962593delTGT				RNA	DEL	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			CELP	-	-	ENSG00000170827		0.626	CELP-002	KNOWN	basic	processed_transcript	CELP	HGNC	pseudogene	OTTHUMT00000339837.1		0.00	18	0	TGT	NM_001808		135962593	+1	tier1		no_errors	ENST00000411440	ensembl	human	known	74_37	rna	26.67	11	4	DEL	0.004:0.003:0.001	-
CEP97	79598	genome.wustl.edu	37	3	101474436	101474436	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:101474436G>T	ENST00000341893.3	+	7	1643	c.891G>T	c.(889-891)caG>caT	p.Q297H	CEP97_ENST00000494050.1_Missense_Mutation_p.Q297H|CEP97_ENST00000327230.4_Missense_Mutation_p.Q297H			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	297					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGAGCAAACAGAGGTAAGCCC	0.443																																																	0													109.0	103.0	105.0					3																	101474436		2203	4300	6503	SO:0001583	missense	0			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.891G>T	3.37:g.101474436G>T	ENSP00000342510:p.Gln297His		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.Q297H	ENST00000341893.3	37	c.891	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483064	0.44147	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.56103	0.48;0.49;0.54	6.03	5.15	0.70609	.	0.053250	0.85682	D	0.000000	T	0.61751	0.2372	L	0.51422	1.61	0.45676	D	0.998595	D;P;P	0.76494	0.999;0.749;0.633	P;B;B	0.62014	0.897;0.341;0.184	T	0.60141	-0.7321	10	0.49607	T	0.09	-6.5624	11.1712	0.48573	0.1494:0.0:0.8506:0.0	.	297;297;297	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	H	297	ENSP00000342510:Q297H;ENSP00000325881:Q297H;ENSP00000418185:Q297H	ENSP00000325881:Q297H	Q	+	3	2	CEP97	102957126	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	3.391000	0.52530	2.868000	0.98415	0.557000	0.71058	CAG	CEP97	-	NULL	ENSG00000182504		0.443	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	-	0.00	48	0	G	NM_024548		101474436	+1	tier1	-	no_errors	ENST00000327230	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
CHPF	79586	genome.wustl.edu	37	2	220404580	220404580	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:220404580G>T	ENST00000243776.6	-	4	2101	c.1853C>A	c.(1852-1854)aCg>aAg	p.T618K	CHPF_ENST00000535926.1_Missense_Mutation_p.T456K	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	618					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGTGAGCACCGTGTCTGGCCC	0.617																																																	0													83.0	88.0	86.0					2																	220404580		2201	4299	6500	SO:0001583	missense	0			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1853C>A	2.37:g.220404580G>T	ENSP00000243776:p.Thr618Lys		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.T618K	ENST00000243776.6	37	c.1853	CCDS2443.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041970	0.75732	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16324	2.35;2.35	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.74258	2.255	0.53688	D	0.999977	D	0.64830	0.994	D	0.71414	0.973	T	0.18085	-1.0348	10	0.54805	T	0.06	-18.3329	13.7391	0.62836	0.0:0.1541:0.8459:0.0	.	618	Q8IZ52	CHSS2_HUMAN	K	618;456	ENSP00000243776:T618K;ENSP00000445571:T456K	ENSP00000243776:T618K	T	-	2	0	CHPF	220112824	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	7.681000	0.84073	2.563000	0.86464	0.561000	0.74099	ACG	CHPF	-	pfam_Chond_GalNAc	ENSG00000123989		0.617	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1		0.00	57	0	G	NM_024536		220404580	-1			no_errors	ENST00000243776	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.998	T
CHST13	166012	genome.wustl.edu	37	3	126260800	126260800	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:126260800G>A	ENST00000319340.2	+	3	455	c.405G>A	c.(403-405)ccG>ccA	p.P135P		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	135					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCGGCGACCCGCGCGCCATCT	0.721																																																	0													13.0	12.0	13.0					3																	126260800		2172	4228	6400	SO:0001819	synonymous_variant	0			AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.405G>A	3.37:g.126260800G>A			Q3SYA3|Q3SYA5	Silent	SNP	pfam_Sulfotransferase	p.P135	ENST00000319340.2	37	c.405	CCDS3039.1	3																																																																																			CHST13	-	pfam_Sulfotransferase	ENSG00000180767		0.721	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST13	HGNC	protein_coding	OTTHUMT00000370201.2		0.00	38	0	G	NM_152889		126260800	+1			no_errors	ENST00000319340	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.240	A
CIT	11113	genome.wustl.edu	37	12	120128164	120128164	+	Missense_Mutation	SNP	C	C	T	rs371376893		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:120128164C>T	ENST00000261833.7	-	46	5904	c.5852G>A	c.(5851-5853)cGa>cAa	p.R1951Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1993Q	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1951					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTTGGCTCTCGCGGGTGGCT	0.726																																																	0								C	GLN/ARG,GLN/ARG	0,4394		0,0,2197	14.0	16.0	15.0		5978,5852	5.5	1.0	12		15	1,8573		0,1,4286	no	missense,missense	CIT	NM_001206999.1,NM_007174.2	43,43	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	1993/2070,1951/2028	120128164	1,12967	2197	4287	6484	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5852G>A	12.37:g.120128164C>T	ENSP00000261833:p.Arg1951Gln		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R1951Q	ENST00000261833.7	37	c.5852	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.939676|4.939676	0.92526|0.92526	0.0|0.0	1.17E-4|1.17E-4	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.69040	.|-0.34;-0.37	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.238872	.|0.34853	.|N	.|0.003622	T|T	0.75287|0.75287	0.3829|0.3829	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999991|0.999991	.|B;D;D	.|0.76494	.|0.026;0.999;0.996	.|B;P;P	.|0.56751	.|0.003;0.805;0.731	T|T	0.75199|0.75199	-0.3402|-0.3402	5|10	.|0.51188	.|T	.|0.08	.|.	19.7507|19.7507	0.96267|0.96267	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1993;1951;1468	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|Q	1564|1993;1951	.|ENSP00000376306:R1993Q;ENSP00000261833:R1951Q	.|ENSP00000261833:R1951Q	E|R	-|-	1|2	0|0	CIT|CIT	118612547|118612547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.637000|7.637000	0.83313|0.83313	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAG|CGA	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.726	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	-	0.00	58	0	C	NM_007174		120128164	-1	tier1	-	no_errors	ENST00000261833	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	T
CLEC14A	161198	genome.wustl.edu	37	14	38724231	38724231	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:38724231C>A	ENST00000342213.2	-	1	1343	c.997G>T	c.(997-999)Gtc>Ttc	p.V333F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	333						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCAGGGACAAGTGGTGTC	0.577																																																	0													98.0	83.0	88.0					14																	38724231		2203	4300	6503	SO:0001583	missense	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.997G>T	14.37:g.38724231C>A	ENSP00000353013:p.Val333Phe		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.V333F	ENST00000342213.2	37	c.997	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355171	0.61293	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.76578	-1.03	4.23	2.42	0.29668	.	2.683750	0.02233	U	0.065068	T	0.71821	0.3385	L	0.27053	0.805	0.09310	N	1	P	0.47677	0.899	P	0.45610	0.487	T	0.61004	-0.7150	10	0.46703	T	0.11	-0.1132	6.8596	0.24060	0.0:0.7912:0.0:0.2088	.	333	Q86T13	CLC14_HUMAN	F	333;98	ENSP00000353013:V333F	ENSP00000353013:V333F	V	-	1	0	CLEC14A	37793982	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	0.452000	0.21795	0.748000	0.32831	0.563000	0.77884	GTC	CLEC14A	-	NULL	ENSG00000176435		0.577	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	-	0.00	38	0	C	NM_175060		38724231	-1	tier1	-	no_errors	ENST00000342213	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.000	A
CLEC17A	388512	genome.wustl.edu	37	19	14717876	14717876	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:14717876G>A	ENST00000417570.1	+	13	1004	c.966G>A	c.(964-966)ggG>ggA	p.G322G	CLEC17A_ENST00000397439.2_Intron|CLEC17A_ENST00000547437.1_Intron	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	322	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CCCAGGAAGGGGACTGGAGGT	0.577																																																	0																																										SO:0001819	synonymous_variant	0			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.966G>A	19.37:g.14717876G>A			A8MX68|B2RTX0|B7ZMM4	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.G322	ENST00000417570.1	37	c.966	CCDS56087.1	19																																																																																			CLEC17A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000187912		0.577	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1	-	0.00	93	0	G	NM_207390		14717876	+1	tier1	-	no_errors	ENST00000417570	ensembl	human	known	74_37	silent	16.88	64	13	SNP	0.249	A
CLPTM1L	81037	genome.wustl.edu	37	5	1344846	1344846	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:1344846G>A	ENST00000320895.5	-	1	368	c.111C>T	c.(109-111)tcC>tcT	p.S37S	CLPTM1L_ENST00000507807.1_5'Flank|CLPTM1L_ENST00000320927.6_Silent_p.S37S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	37					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TGGCGTCGCCGGAGCACGGGC	0.711																																																	0													19.0	19.0	19.0					5																	1344846		2181	4286	6467	SO:0001819	synonymous_variant	0			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.111C>T	5.37:g.1344846G>A			D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	pfam_CLPTM1	p.S37	ENST00000320895.5	37	c.111	CCDS3862.1	5																																																																																			CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.711	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	-	0.00	37	0	G	NM_030782		1344846	-1	tier1	-	no_errors	ENST00000320895	ensembl	human	known	74_37	silent	12.50	35	5	SNP	0.086	A
CMTR1	23070	genome.wustl.edu	37	6	37414120	37414120	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:37414120G>A	ENST00000373451.4	+	4	503	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	113	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GCCAGGGTCGGAAGGACATCG	0.517																																																	0													201.0	194.0	196.0					6																	37414120		2203	4300	6503	SO:0001819	synonymous_variant	0			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.339G>A	6.37:g.37414120G>A			A8K949|Q14670|Q96FJ9	Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_dom,pfscan_G_patch_dom	p.R113	ENST00000373451.4	37	c.339	CCDS4835.1	6																																																																																			CMTR1	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	ENSG00000137200		0.517	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMTR1	HGNC	protein_coding	OTTHUMT00000040408.1	-	0.00	76	0	G	NM_015050		37414120	+1	tier1	-	no_errors	ENST00000373451	ensembl	human	known	74_37	silent	13.95	74	12	SNP	1.000	A
CNOT3	4849	genome.wustl.edu	37	19	54652448	54652448	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:54652448C>T	ENST00000406403.1	+	11	2979	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	CNOT3_ENST00000221232.5_Missense_Mutation_p.S459F|CNOT3_ENST00000358389.3_Missense_Mutation_p.S278F			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	459	Pro-rich.				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)					GGCCCCCCTTCCGGCCCCCAC	0.647																																																	0													20.0	24.0	23.0					19																	54652448		2203	4298	6501	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.1376C>T	19.37:g.54652448C>T	ENSP00000383954:p.Ser459Phe		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.S459F	ENST00000406403.1	37	c.1376	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801682	0.50315	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403	T;T	0.47177	0.85;0.85	3.91	3.91	0.45181	.	0.896368	0.09633	N	0.776011	T	0.35799	0.0944	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.28512	0.07;0.145;0.214	B;B;B	0.28011	0.085;0.085;0.085	T	0.34329	-0.9833	10	0.56958	D	0.05	-0.064	15.2101	0.73214	0.0:1.0:0.0:0.0	.	459;459;383	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	F	459;278;459	ENSP00000221232:S459F;ENSP00000383954:S459F	ENSP00000221232:S459F	S	+	2	0	CNOT3	59344260	0.211000	0.23529	0.005000	0.12908	0.874000	0.50279	5.582000	0.67477	2.174000	0.68829	0.585000	0.79938	TCC	CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.647	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3		0.00	93	0	C	NM_014516		54652448	+1			no_errors	ENST00000221232	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.067	T
CNTN1	1272	genome.wustl.edu	37	12	41408098	41408098	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:41408098G>C	ENST00000551295.2	+	18	2299	c.2182G>C	c.(2182-2184)Gcg>Ccg	p.A728P	CNTN1_ENST00000347616.1_Missense_Mutation_p.A728P|CNTN1_ENST00000348761.2_Missense_Mutation_p.A717P|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	728	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATAACATGGGCGGTAAGTAT	0.383																																																	0													154.0	139.0	144.0					12																	41408098		2203	4300	6503	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2182G>C	12.37:g.41408098G>C	ENSP00000447006:p.Ala728Pro		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	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.A728P	ENST00000551295.2	37	c.2182	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859060	0.51376	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57436	0.4;0.4;0.4	5.45	5.45	0.79879	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.372699	0.30969	N	0.008508	T	0.38161	0.1030	N	0.14661	0.345	0.80722	D	1	B;B	0.30634	0.244;0.288	B;B	0.36808	0.15;0.233	T	0.32824	-0.9892	10	0.59425	D	0.04	.	9.5498	0.39304	0.0814:0.1466:0.7719:0.0	.	717;728	Q12860-2;Q12860	.;CNTN1_HUMAN	P	728;728;717	ENSP00000447006:A728P;ENSP00000325660:A728P;ENSP00000261160:A717P	ENSP00000325660:A728P	A	+	1	0	CNTN1	39694365	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.391000	0.52530	2.941000	0.99782	0.655000	0.94253	GCG	CNTN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000018236		0.383	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0.00	95	0	G	NM_001843		41408098	+1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	5.74	115	7	SNP	1.000	C
CNTRL	11064	genome.wustl.edu	37	9	123870109	123870109	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:123870109G>C	ENST00000373855.1	+	8	1098	c.838G>C	c.(838-840)Gaa>Caa	p.E280Q	CNTRL_ENST00000373865.2_Missense_Mutation_p.E280Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E280Q			Q7Z7A1	CNTRL_HUMAN	centriolin	280					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGAGACCTAGAAAAAAAGAT	0.269																																																	0													31.0	32.0	31.0					9																	123870109		2203	4298	6501	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.838G>C	9.37:g.123870109G>C	ENSP00000362962:p.Glu280Gln		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E280Q	ENST00000373855.1	37	c.838	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213789	0.79352	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.27402	1.67;1.67	5.84	5.84	0.93424	.	.	.	.	.	T	0.53594	0.1806	L	0.58101	1.795	0.40425	D	0.979881	D	0.76494	0.999	D	0.80764	0.994	T	0.46076	-0.9217	9	0.42905	T	0.14	.	18.6974	0.91605	0.0:0.0:1.0:0.0	.	280	Q7Z7A1	CNTRL_HUMAN	Q	280	ENSP00000362962:E280Q;ENSP00000238341:E280Q	ENSP00000238341:E280Q	E	+	1	0	CNTRL	122909930	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.425000	0.80255	2.767000	0.95098	0.591000	0.81541	GAA	CNTRL	-	NULL	ENSG00000119397		0.269	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	-	0.00	69	0	G	NM_007018		123870109	+1	tier1	-	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	10.61	57	7	SNP	1.000	C
COCH	1690	genome.wustl.edu	37	14	31355479	31355479	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:31355479G>A	ENST00000396618.3	+	11	1494	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	COCH_ENST00000460581.2_Missense_Mutation_p.D368N|COCH_ENST00000475087.1_Missense_Mutation_p.D480N|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.D331N|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.D480N	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	480	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GCAGTCCTATGATGATGTCCA	0.458																																																	0													60.0	59.0	59.0					14																	31355479		2203	4300	6503	SO:0001583	missense	0				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1438G>A	14.37:g.31355479G>A	ENSP00000379862:p.Asp480Asn		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.D480N	ENST00000396618.3	37	c.1438	CCDS9640.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.336044|5.336044	0.95758|0.95758	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493|ENST00000468826	D;D;D;D;D|.	0.85013|.	-1.93;-1.93;-1.93;-1.93;-1.93|.	5.89|5.89	5.89|5.89	0.94794|0.94794	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87067|0.87067	0.6085|0.6085	M|M	0.92122|0.92122	3.275|3.275	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	D|D	0.88974|0.88974	0.3403|0.3403	10|5	0.87932|.	D|.	0|.	-23.5187|-23.5187	20.2625|20.2625	0.98452|0.98452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	331;480;480|.	E7EN67;Q96IU6;O43405|.	.;.;COCH_HUMAN|.	N|I	480;480;480;368;331|363	ENSP00000216361:D480N;ENSP00000379862:D480N;ENSP00000451528:D480N;ENSP00000451713:D368N;ENSP00000371933:D331N|.	ENSP00000216361:D480N|.	D|M	+|+	1|3	0|0	COCH|COCH	30425230|30425230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.675000|9.675000	0.98638|0.98638	2.782000|2.782000	0.95742|0.95742	0.557000|0.557000	0.71058|0.71058	GAT|ATG	COCH	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000100473		0.458	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	-	0.00	67	0	G	NM_004086		31355479	+1	tier1	-	no_errors	ENST00000216361	ensembl	human	known	74_37	missense	11.83	82	11	SNP	1.000	A
COL11A1	1301	genome.wustl.edu	37	1	103444649	103444649	+	Silent	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:103444649G>T	ENST00000370096.3	-	33	2934	c.2622C>A	c.(2620-2622)ggC>ggA	p.G874G	COL11A1_ENST00000512756.1_Silent_p.G758G|COL11A1_ENST00000358392.2_Silent_p.G886G|COL11A1_ENST00000353414.4_Silent_p.G835G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	874	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGCCTGGTTTGCCAGCTACTC	0.398																																																	0													49.0	53.0	52.0					1																	103444649		2203	4300	6503	SO:0001819	synonymous_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2622C>A	1.37:g.103444649G>T			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G886	ENST00000370096.3	37	c.2658	CCDS778.1	1																																																																																			COL11A1	-	NULL	ENSG00000060718		0.398	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0.00	59	0	G	NM_080630		103444649	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T
COL11A1	1301	genome.wustl.edu	37	1	103491477	103491477	+	Intron	SNP	C	C	A	rs569376136		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:103491477C>A	ENST00000370096.3	-	6	1210				COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.R271M|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCCACTGTCCTCATCTTCTT	0.338																																																	0													116.0	122.0	120.0					1																	103491477		2202	4300	6502	SO:0001627	intron_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.897+294G>T	1.37:g.103491477C>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.R271M	ENST00000370096.3	37	c.812	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486128	0.26686	.	.	ENSG00000060718	ENST00000358392;ENST00000427239	T;T	0.72282	-0.6;-0.64	5.5	0.346	0.16017	.	2.027010	0.01522	N	0.018417	T	0.53867	0.1823	L	0.47716	1.5	0.80722	D	1	P	0.41848	0.763	B	0.44224	0.444	T	0.48281	-0.9049	10	0.37606	T	0.19	.	8.9387	0.35715	0.0:0.5503:0.0:0.4497	.	271	P12107-2	.	M	271	ENSP00000351163:R271M;ENSP00000408640:R271M	ENSP00000351163:R271M	R	-	2	0	COL11A1	103264065	0.985000	0.35326	0.831000	0.32960	0.995000	0.86356	0.155000	0.16362	-0.181000	0.10619	0.638000	0.83543	AGG	COL11A1	-	NULL	ENSG00000060718		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0.00	62	0	C	NM_080630		103491477	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.997	A
COL4A2	1284	genome.wustl.edu	37	13	111109911	111109911	+	Intron	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr13:111109911C>T	ENST00000360467.5	+	21	1738				COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCTCTCCCAGCCTCCTGTCCC	0.602																																																	0																																										SO:0001627	intron_variant	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1432+129C>T	13.37:g.111109911C>T			Q14052|Q548C3|Q5VZA9|Q66K23	RNA	SNP	-	NULL	ENST00000360467.5	37	NULL	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059197	0.36373	.	.	ENSG00000224821	ENST00000458403	.	.	.	1.74	1.74	0.24563	.	.	.	.	.	T	0.39036	0.1063	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	T	0.31138	-0.9954	5	0.56958	D	0.05	.	6.9807	0.24702	0.0:1.0:0.0:0.0	.	.	.	.	D	147	.	ENSP00000390212:G147D	G	-	2	0	COL4A2-AS2	109907912	0.000000	0.05858	0.007000	0.13788	0.061000	0.15899	0.065000	0.14466	1.300000	0.44818	0.313000	0.20887	GGC	COL4A2-AS2	-	-	ENSG00000224821		0.602	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2-AS2	HGNC	protein_coding	OTTHUMT00000045761.2	-	0.00	57	0	C	NM_001846		111109911	-1	tier1	-	no_errors	ENST00000458403	ensembl	human	known	74_37	rna	10.71	50	6	SNP	0.007	T
CYP39A1	51302	genome.wustl.edu	37	6	46554852	46554852	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:46554852G>C	ENST00000275016.2	-	10	1415	c.1212C>G	c.(1210-1212)ttC>ttG	p.F404L	CYP39A1_ENST00000489657.1_5'UTR	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	404					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CAAATGCCATGAAGCAGTCCA	0.433																																																	0													76.0	69.0	71.0					6																	46554852		2203	4300	6503	SO:0001583	missense	0			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1212C>G	6.37:g.46554852G>C	ENSP00000275016:p.Phe404Leu		Q5VTT0|Q96FW5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.F404L	ENST00000275016.2	37	c.1212	CCDS4916.1	6	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488776	0.64074	.	.	ENSG00000146233	ENST00000275016	T	0.71698	-0.59	5.91	2.76	0.32466	.	0.052090	0.85682	D	0.000000	T	0.68421	0.2999	L	0.56340	1.77	0.39624	D	0.970071	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.68591	-0.5368	10	0.42905	T	0.14	-13.7867	9.4689	0.38831	0.3287:0.0:0.6713:0.0	.	384;404	B7Z786;Q9NYL5	.;CP39A_HUMAN	L	404	ENSP00000275016:F404L	ENSP00000275016:F404L	F	-	3	2	CYP39A1	46662811	0.851000	0.29673	0.103000	0.21229	0.912000	0.54170	1.281000	0.33214	0.845000	0.35118	0.650000	0.86243	TTC	CYP39A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	ENSG00000146233		0.433	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	-	0.00	81	0	G			46554852	-1	tier1	-	no_errors	ENST00000275016	ensembl	human	known	74_37	missense	25.00	87	29	SNP	0.638	C
CYP4F8	11283	genome.wustl.edu	37	19	15734900	15734900	+	RNA	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:15734900G>C	ENST00000441682.2	+	0	1172							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TAAAGAGATTGAATGGTGAGT	0.552																																																	0													83.0	71.0	75.0					19																	15734900		2203	4300	6503			0			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15734900G>C				RNA	SNP	-	NULL	ENST00000441682.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	10.46	1.357194	0.24598	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.11	3.11	0.35812	.	0.232347	0.33290	U	0.005076	T	0.56016	0.1957	.	.	.	0.34152	D	0.667637	P;P	0.49358	0.576;0.923	P;P	0.52672	0.513;0.706	T	0.65071	-0.6257	7	0.29301	T	0.29	.	11.6886	0.51501	0.0:0.0:1.0:0.0	.	183;371	B4DU85;P98187	.;CP4F8_HUMAN	Q	370;183;220	.	ENSP00000314398:E183Q	E	+	1	0	CYP4F8	15595900	1.000000	0.71417	0.997000	0.53966	0.668000	0.39293	2.262000	0.43285	1.563000	0.49615	0.411000	0.27672	GAA	CYP4F8	-	-	ENSG00000186526		0.552	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	HGNC	processed_transcript		-	0.00	160	0	G	NM_007253		15734900	+1	tier1	-	no_errors	ENST00000325723	ensembl	human	known	74_37	rna	19.35	150	36	SNP	1.000	C
CYTIP	9595	genome.wustl.edu	37	2	158300421	158300421	+	Missense_Mutation	SNP	C	C	T	rs370374268		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:158300421C>T	ENST00000264192.3	-	1	233	c.112G>A	c.(112-114)Gat>Aat	p.D38N	CYTIP_ENST00000497432.1_Intron|CYTIP_ENST00000540637.1_Intron|AC019201.1_ENST00000401235.1_RNA	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	38					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTTCTATTATCGTCCATCGTA	0.507																																																	0								C	ASN/ASP	0,4406		0,0,2203	180.0	155.0	164.0		112	4.7	1.0	2		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYTIP	NM_004288.4	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	38/360	158300421	1,13005	2203	4300	6503	SO:0001583	missense	0			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.112G>A	2.37:g.158300421C>T	ENSP00000264192:p.Asp38Asn		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D38N	ENST00000264192.3	37	c.112	CCDS2204.1	2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710478	0.48517	0.0	1.16E-4	ENSG00000115165	ENST00000264192;ENST00000439355;ENST00000435117	T;T;T	0.74526	2.0;0.78;-0.85	5.72	4.74	0.60224	.	0.079926	0.46758	D	0.000279	T	0.57286	0.2043	L	0.32530	0.975	0.80722	D	1	B	0.29805	0.257	B	0.17433	0.018	T	0.56505	-0.7968	10	0.37606	T	0.19	-19.6806	6.5918	0.22651	0.0:0.8539:0.0:0.1461	.	38	O60759	CYTIP_HUMAN	N	38;3;3	ENSP00000264192:D38N;ENSP00000402771:D3N;ENSP00000402155:D3N	ENSP00000264192:D38N	D	-	1	0	CYTIP	158008667	0.994000	0.37717	0.994000	0.49952	0.296000	0.27459	3.018000	0.49625	2.691000	0.91804	0.655000	0.94253	GAT	CYTIP	-	NULL	ENSG00000115165		0.507	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	-	0.00	77	0	C	NM_004288		158300421	-1	tier1	-	no_errors	ENST00000264192	ensembl	human	known	74_37	missense	11.71	96	13	SNP	1.000	T
DAAM2	23500	genome.wustl.edu	37	6	39835345	39835345	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:39835345G>T	ENST00000398904.2	+	6	670	c.488G>T	c.(487-489)aGc>aTc	p.S163I	DAAM2_ENST00000274867.4_Missense_Mutation_p.S163I|DAAM2_ENST00000538976.1_Missense_Mutation_p.S163I			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	163	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCCTCCGGAGCATGGACCAC	0.507																																																	0													110.0	113.0	112.0					6																	39835345		2115	4236	6351	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.488G>T	6.37:g.39835345G>T	ENSP00000381876:p.Ser163Ile		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.S163I	ENST00000398904.2	37	c.488	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867747	0.51588	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.89552	-2.53;-2.53;-2.53	5.43	5.43	0.79202	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.085421	0.85682	D	0.000000	D	0.85120	0.5624	M	0.61703	1.905	0.80722	D	1	B;B	0.33044	0.343;0.395	B;B	0.33454	0.102;0.164	D	0.86154	0.1589	10	0.59425	D	0.04	.	18.8305	0.92137	0.0:0.0:1.0:0.0	.	163;163	G5EA45;Q86T65	.;DAAM2_HUMAN	I	163	ENSP00000274867:S163I;ENSP00000381876:S163I;ENSP00000437808:S163I	ENSP00000274867:S163I	S	+	2	0	DAAM2	39943323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.709000	0.68384	2.540000	0.85666	0.561000	0.74099	AGC	DAAM2	-	pfam_GTPase-bd,superfamily_ARM-type_fold	ENSG00000146122		0.507	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	-	0.00	81	0	G			39835345	+1	tier1	-	no_errors	ENST00000274867	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
DAGLA	747	genome.wustl.edu	37	11	61496471	61496471	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:61496471C>T	ENST00000257215.5	+	8	956	c.840C>T	c.(838-840)ctC>ctT	p.L280L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	280					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACCTCGACCTCAAGAATTCAG	0.542																																																	0													234.0	190.0	205.0					11																	61496471		2202	4299	6501	SO:0001819	synonymous_variant	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.840C>T	11.37:g.61496471C>T			A7E233|Q6WQJ0	Silent	SNP	pfam_Lipase_3	p.L280	ENST00000257215.5	37	c.840	CCDS31578.1	11																																																																																			DAGLA	-	NULL	ENSG00000134780		0.542	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	-	0.00	57	0	C	NM_006133		61496471	+1	tier1	-	no_errors	ENST00000257215	ensembl	human	known	74_37	silent	33.85	43	22	SNP	0.997	T
DDX26B	203522	genome.wustl.edu	37	X	134716221	134716221	+	3'UTR	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:134716221T>C	ENST00000370752.4	+	0	3580				DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCTTGCATGTGATGATAG	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.*660T>C	X.37:g.134716221T>C			Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	RNA	SNP	-	NULL	ENST00000370752.4	37	NULL	CCDS35401.1	X																																																																																			DDX26B	-	-	ENSG00000165359		0.378	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	-	0.00	18	0	T	NM_182540		134716221	+1	tier1	-	no_errors	ENST00000481429	ensembl	human	known	74_37	rna	39.29	17	11	SNP	0.998	C
DDX39A	10212	genome.wustl.edu	37	19	14520777	14520777	+	Intron	DEL	G	G	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:14520777delG	ENST00000242776.4	-	7	834				DDX39A_ENST00000454233.2_Frame_Shift_Del_p.S250fs|DDX39A_ENST00000592927.1_Intron|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A						mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TCCTTTGTGCGACACTTCCCA	0.607																																																	0																																										SO:0001627	intron_variant	0			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.733-92C>-	19.37:g.14520777delG			Q8N5M0|Q9BVP6|Q9H5W0	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif	p.S250fs	ENST00000242776.4	37	c.749	CCDS12308.1	19																																																																																			DDX39A	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd	ENSG00000123136		0.607	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39A	HGNC	protein_coding	OTTHUMT00000459880.1		0.00	51	0	G	NM_138998		14520777	-1	tier1		no_errors	ENST00000454233	ensembl	human	known	74_37	frame_shift_del	11.54	46	6	DEL	0.000	-
DEK	7913	genome.wustl.edu	37	6	18255979	18255979	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:18255979G>C	ENST00000397239.3	-	6	1003	c.556C>G	c.(556-558)Cca>Gca	p.P186A	DEK_ENST00000244776.7_Missense_Mutation_p.P152A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	186					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GAAGGCTTTGGATGCATTAAG	0.318			T	NUP214	AML																																			Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													94.0	94.0	94.0					6																	18255979		2203	4300	6503	SO:0001583	missense	0			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.556C>G	6.37:g.18255979G>C	ENSP00000380414:p.Pro186Ala		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom	p.P186A	ENST00000397239.3	37	c.556	CCDS34344.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380913	0.82792	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000503715	D;D;D	0.94687	-3.49;-3.32;-1.7	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.71674	0.998;0.994	D;D	0.79108	0.992;0.988	D	0.96618	0.9457	10	0.72032	D	0.01	-9.5578	20.2009	0.98259	0.0:0.0:1.0:0.0	.	152;186	B4DN37;P35659	.;DEK_HUMAN	A	186;152;119	ENSP00000380414:P186A;ENSP00000244776:P152A;ENSP00000425399:P119A	ENSP00000244776:P152A	P	-	1	0	DEK	18363958	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.468000	0.73551	2.767000	0.95098	0.591000	0.81541	CCA	DEK	-	NULL	ENSG00000124795		0.318	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEK	HGNC	protein_coding	OTTHUMT00000039962.4	-	0.00	52	0	G			18255979	-1	tier1	-	no_errors	ENST00000397239	ensembl	human	known	74_37	missense	8.77	51	5	SNP	1.000	C
DLC1	10395	genome.wustl.edu	37	8	12946153	12946153	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:12946153C>G	ENST00000276297.4	-	16	4544	c.4135G>C	c.(4135-4137)Gag>Cag	p.E1379Q	DLC1_ENST00000512044.2_Missense_Mutation_p.E976Q|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.E868Q|DLC1_ENST00000358919.2_Missense_Mutation_p.E942Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1379	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAGATTTCCTCTGGCACAGCA	0.463																																																	0													117.0	123.0	121.0					8																	12946153		2203	4300	6503	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4135G>C	8.37:g.12946153C>G	ENSP00000276297:p.Glu1379Gln		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.E1379Q	ENST00000276297.4	37	c.4135	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111388	0.37242	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.05	5.05	0.67936	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82213	0.4988	L	0.33189	0.99	0.80722	D	1	B;D;D	0.89917	0.392;0.971;1.0	B;D;D	0.71870	0.349;0.926;0.975	T	0.79269	-0.1873	10	0.30078	T	0.28	.	18.9978	0.92819	0.0:1.0:0.0:0.0	.	1379;976;942	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	Q	1379;942;318;976;868	ENSP00000276297:E1379Q;ENSP00000351797:E942Q;ENSP00000422595:E976Q;ENSP00000428028:E868Q	ENSP00000276297:E1379Q	E	-	1	0	DLC1	12990524	0.997000	0.39634	0.870000	0.34147	0.278000	0.26855	3.582000	0.53921	2.793000	0.96121	0.655000	0.94253	GAG	DLC1	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000164741		0.463	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0.00	96	0	C	NM_182643, NM_006094		12946153	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	missense	13.39	97	15	SNP	0.991	G
DLGAP3	58512	genome.wustl.edu	37	1	35370982	35370982	+	Start_Codon_SNP	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:35370982C>T	ENST00000373347.1	-	3	271	c.3G>A	c.(1-3)atG>atA	p.M1I	DLGAP3_ENST00000495979.1_5'UTR|DLGAP3_ENST00000235180.4_Start_Codon_SNP_p.M1I			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	1					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTAACCCCTCATGGCCTCAG	0.587																																																	0																																										SO:0001582	initiator_codon_variant	0			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.3G>A	1.37:g.35370982C>T	ENSP00000362444:p.Met1Ile		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	pfam_GKAP	p.M1I	ENST00000373347.1	37	c.3	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	c	14.62	2.590772	0.46214	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.25749	1.78;1.78	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	.	.	.	0.80722	D	1	B	0.30439	0.279	B	0.27608	0.081	T	0.13683	-1.0500	9	0.87932	D	0	-10.7335	17.1896	0.86875	0.0:1.0:0.0:0.0	.	1	O95886	DLGP3_HUMAN	I	1	ENSP00000362444:M1I;ENSP00000235180:M1I	ENSP00000235180:M1I	M	-	3	0	DLGAP3	35143569	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.657000	0.54474	2.054000	0.61138	0.457000	0.33378	ATG	DLGAP3	-	NULL	ENSG00000116544		0.587	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1		0.00	103	0	C	NM_021234	Missense_Mutation	35370982	-1			no_errors	ENST00000235180	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
DLGAP5	9787	genome.wustl.edu	37	14	55644016	55644016	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:55644016C>G	ENST00000247191.2	-	8	1029	c.813G>C	c.(811-813)ttG>ttC	p.L271F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.L271F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	271					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTGTGAATTCAAAGTATTTT	0.323																																																	0													96.0	95.0	95.0					14																	55644016		2202	4298	6500	SO:0001583	missense	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.813G>C	14.37:g.55644016C>G	ENSP00000247191:p.Leu271Phe		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.L271F	ENST00000247191.2	37	c.813	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923322	0.52653	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.12984	2.63;2.63	5.85	4.96	0.65561	.	1.035160	0.07566	N	0.917740	T	0.24851	0.0603	M	0.63843	1.955	0.09310	N	1	D;D	0.56035	0.974;0.974	P;P	0.50617	0.646;0.646	T	0.12243	-1.0555	10	0.15066	T	0.55	.	12.5581	0.56265	0.0:0.9238:0.0:0.0762	.	271;271	A8MTM6;Q15398	.;DLGP5_HUMAN	F	271	ENSP00000378815:L271F;ENSP00000247191:L271F	ENSP00000247191:L271F	L	-	3	2	DLGAP5	54713769	0.075000	0.21258	0.969000	0.41365	0.956000	0.61745	2.536000	0.45693	1.627000	0.50400	0.655000	0.94253	TTG	DLGAP5	-	NULL	ENSG00000126787		0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	-	0.00	38	0	C	NM_014750		55644016	-1	tier1	-	no_errors	ENST00000247191	ensembl	human	known	74_37	missense	36.36	42	24	SNP	0.044	G
DNAH3	55567	genome.wustl.edu	37	16	21042473	21042473	+	Missense_Mutation	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:21042473T>C	ENST00000261383.3	-	37	5332	c.5333A>G	c.(5332-5334)gAg>gGg	p.E1778G	DNAH3_ENST00000415178.1_Missense_Mutation_p.E1778G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1778	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGACGCTTGCTCCCGGAAAGC	0.478																																																	0													156.0	124.0	135.0					16																	21042473		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5333A>G	16.37:g.21042473T>C	ENSP00000261383:p.Glu1778Gly		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.E1778G	ENST00000261383.3	37	c.5333	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	T	14.00	2.405825	0.42715	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	.	0.214575	0.39146	N	0.001443	T	0.43897	0.1268	M	0.75085	2.285	0.47547	D	0.999456	P	0.44986	0.847	B	0.39185	0.293	T	0.48658	-0.9016	10	0.44086	T	0.13	.	13.0584	0.58994	0.0:0.0:0.1337:0.8663	.	1778	Q8TD57	DYH3_HUMAN	G	1778	ENSP00000261383:E1778G;ENSP00000394245:E1778G	ENSP00000261383:E1778G	E	-	2	0	DNAH3	20949974	0.995000	0.38212	1.000000	0.80357	0.734000	0.41952	4.087000	0.57671	2.165000	0.68154	0.533000	0.62120	GAG	DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0.00	66	0	T	NM_017539		21042473	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	12.79	75	11	SNP	1.000	C
DNAH7	56171	genome.wustl.edu	37	2	196671473	196671473	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:196671473C>T	ENST00000312428.6	-	54	10267	c.10167G>A	c.(10165-10167)agG>agA	p.R3389R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3389					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R3389R(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTTGTCTGGCCTCAAGCAAC	0.408																																																	1	Substitution - coding silent(1)	lung(1)											128.0	116.0	120.0					2																	196671473		1890	4122	6012	SO:0001819	synonymous_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10167G>A	2.37:g.196671473C>T			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R3389	ENST00000312428.6	37	c.10167	CCDS42794.1	2																																																																																			DNAH7	-	pfam_Dynein_heavy_dom	ENSG00000118997		0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0.00	72	0	C	NM_018897		196671473	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T
DNAJC14	85406	genome.wustl.edu	37	12	56217248	56217248	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:56217248G>C	ENST00000357606.3	-	4	1741	c.1452C>G	c.(1450-1452)ttC>ttG	p.F484L	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.Q114E|DNAJC14_ENST00000317269.3_Missense_Mutation_p.F484L|DNAJC14_ENST00000317287.5_Missense_Mutation_p.F484L|RP11-762I7.5_ENST00000552719.1_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	484	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCAAAACCTTGAAGGCCTCCT	0.443																																																	0													102.0	93.0	96.0					12																	56217248		2203	4300	6503	SO:0001583	missense	0			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1452C>G	12.37:g.56217248G>C	ENSP00000350223:p.Phe484Leu		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.F484L	ENST00000357606.3	37	c.1452	CCDS8894.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.289402|4.289402	0.80914|0.80914	.|.	.|.	ENSG00000135392|ENSG00000257390	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287|ENST00000546837	T;T;T|.	0.46063|.	0.88;0.88;0.88|.	5.85|5.85	4.95|4.95	0.65309|0.65309	Heat shock protein DnaJ, N-terminal (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78521|0.78521	0.4296|0.4296	M|M	0.87269|0.87269	2.87|2.87	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.81697|0.81697	-0.0815|-0.0815	10|5	0.87932|.	D|.	0|.	-10.5894|-10.5894	13.4676|13.4676	0.61263|0.61263	0.0766:0.0:0.9234:0.0|0.0766:0.0:0.9234:0.0	.|.	484;484|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	L|E	484;484;194;484|114	ENSP00000350223:F484L;ENSP00000316240:F484L;ENSP00000317500:F484L|.	ENSP00000316240:F484L|.	F|Q	-|-	3|1	2|0	DNAJC14|RP11-762I7.5	54503515|54503515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.272000|4.272000	0.58908|0.58908	1.599000|1.599000	0.50093|0.50093	0.655000|0.655000	0.94253|0.94253	TTC|CAA	DNAJC14	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	ENSG00000135392		0.443	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1		0.00	39	0	G	NM_032364		56217248	-1			no_errors	ENST00000317269	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	C
DOCK3	1795	genome.wustl.edu	37	3	51413181	51413181	+	Silent	SNP	G	G	A	rs150544910		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:51413181G>A	ENST00000266037.9	+	51	5438	c.5415G>A	c.(5413-5415)ccG>ccA	p.P1805P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1805					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCTTCAGCCGCCGAATTTCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		21787	0.001		0.0	False		,,,				2504	0.0																0								G		1,4177		0,1,2088	106.0	116.0	112.0		5415	1.2	1.0	3	dbSNP_134	112	0,8418		0,0,4209	no	coding-synonymous	DOCK3	NM_004947.4		0,1,6297	AA,AG,GG		0.0,0.0239,0.0079		1805/2031	51413181	1,12595	2089	4209	6298	SO:0001819	synonymous_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5415G>A	3.37:g.51413181G>A			O15017	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.P1805	ENST00000266037.9	37	c.5415	CCDS46835.1	3																																																																																			DOCK3	-	NULL	ENSG00000088538		0.502	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0.00	86	0	G	NM_004947		51413181	+1			no_errors	ENST00000266037	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.996	A
ZNRF2P2	100271874	genome.wustl.edu	37	7	29727025	29727025	+	RNA	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:29727025T>C	ENST00000426767.1	-	0	0				AC007276.5_ENST00000602980.1_RNA	NR_024278.1				zinc and ring finger 2 pseudogene 2																		GGCATGTTTCTTCCAAAAATG	0.284																																																	0																																												0					7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29727025T>C				RNA	SNP	-	NULL	ENST00000426767.1	37	NULL		7																																																																																			AC007276.5	-	-	ENSG00000227855		0.284	ZNRF2P2-003	KNOWN	basic	processed_transcript	DPY19L2P3	Clone_based_vega_gene	pseudogene	OTTHUMT00000327679.1	-	0.00	203	0	T	NR_027347		29727025	+1	tier1	-	no_errors	ENST00000602965	ensembl	human	known	74_37	rna	12.56	181	26	SNP	0.238	C
DSCR3	10311	genome.wustl.edu	37	21	38639762	38639763	+	5'UTR	INS	-	-	C	rs35672675|rs397760805		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr21:38639762_38639763insC	ENST00000309117.6	-	0	70_71				DSCR3_ENST00000399001.1_5'Flank|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000539844.1_5'Flank|AP001412.1_ENST00000608405.1_RNA|DSCR3_ENST00000288304.5_5'UTR|DSCR3_ENST00000398998.1_5'UTR|DSCR3_ENST00000476950.1_5'Flank	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3							nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						GAGGGGCGAATGCCCACGCCTT	0.693																																																	0																																										SO:0001623	5_prime_UTR_variant	0			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.-168->G	21.37:g.38639762_38639763insC			B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	RNA	INS	-	NULL	ENST00000309117.6	37	NULL	CCDS33553.1	21																																																																																			DSCR3	-	-	ENSG00000157538		0.693	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR3	HGNC	protein_coding	OTTHUMT00000194807.1		0.00	27	0	-			38639763	-1	tier1		no_errors	ENST00000399000	ensembl	human	known	74_37	rna	19.05	17	4	INS	0.001:0.001	C
ECE2	9718	genome.wustl.edu	37	3	184005730	184005730	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:184005730G>C	ENST00000402825.3	+	11	1723	c.1723G>C	c.(1723-1725)Gaa>Caa	p.E575Q	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.E457Q|ECE2_ENST00000359140.4_Missense_Mutation_p.E428Q|ECE2_ENST00000357474.5_Missense_Mutation_p.E503Q	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	575	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAAAGCAAAGAAATTGTGAG	0.502																																																	0													68.0	61.0	63.0					3																	184005730		2203	4300	6503	SO:0001583	missense	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1723G>C	3.37:g.184005730G>C	ENSP00000384223:p.Glu575Gln		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.E575Q	ENST00000402825.3	37	c.1723	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104625	0.37145	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	4.75	4.75	0.60458	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.361799	0.28600	N	0.014762	T	0.58235	0.2108	L	0.34521	1.04	0.38527	D	0.948886	B;B;B;B;B;B;B	0.19583	0.003;0.009;0.037;0.004;0.03;0.004;0.009	B;B;B;B;B;B;B	0.22152	0.014;0.021;0.021;0.008;0.012;0.008;0.038	T	0.57860	-0.7738	10	0.34782	T	0.22	-3.4158	10.0644	0.42295	0.0941:0.0:0.9059:0.0	.	177;428;446;457;503;428;575	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	Q	575;428;457;503;449	ENSP00000384223:E575Q;ENSP00000352052:E428Q;ENSP00000385846:E457Q;ENSP00000350066:E503Q;ENSP00000398444:E449Q	ENSP00000350066:E503Q	E	+	1	0	ECE2	185488424	0.993000	0.37304	1.000000	0.80357	0.908000	0.53690	1.633000	0.37113	2.186000	0.69663	0.655000	0.94253	GAA	ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.502	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0.00	77	0	G	NM_014693		184005730	+1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	22.95	47	14	SNP	1.000	C
EFR3A	23167	genome.wustl.edu	37	8	132982840	132982840	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:132982840C>A	ENST00000254624.5	+	10	1334	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	EFR3A_ENST00000334503.4_Missense_Mutation_p.S370Y|EFR3A_ENST00000519656.1_Missense_Mutation_p.S334Y	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	370						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AATACAAGTTCCAAAGACAAT	0.368																																																	0													120.0	119.0	119.0					8																	132982840		2203	4300	6503	SO:0001583	missense	0			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1109C>A	8.37:g.132982840C>A	ENSP00000254624:p.Ser370Tyr		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S370Y	ENST00000254624.5	37	c.1109	CCDS34942.2	8	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684729	0.47991	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.32753	1.44;1.44;1.44	5.56	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.586739	0.18084	N	0.152205	T	0.37156	0.0993	L	0.52573	1.65	0.44508	D	0.997454	B	0.26363	0.147	B	0.38428	0.273	T	0.25257	-1.0137	10	0.59425	D	0.04	-4.2277	13.4661	0.61254	0.0:0.9249:0.0:0.0751	.	370	Q14156	EFR3A_HUMAN	Y	370;370;370;334	ENSP00000254624:S370Y;ENSP00000334769:S370Y;ENSP00000428086:S334Y	ENSP00000254624:S370Y	S	+	2	0	EFR3A	133052022	1.000000	0.71417	0.778000	0.31720	0.799000	0.45148	5.720000	0.68470	1.376000	0.46267	0.585000	0.79938	TCC	EFR3A	-	superfamily_ARM-type_fold	ENSG00000132294		0.368	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	HGNC	protein_coding	OTTHUMT00000318886.1	-	0.00	79	0	C	NM_015137		132982840	+1	tier1	-	no_errors	ENST00000254624	ensembl	human	known	74_37	missense	10.19	141	16	SNP	0.901	A
EIF2D	1939	genome.wustl.edu	37	1	206767028	206767028	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:206767028C>T	ENST00000271764.2	-	14	1832	c.1624G>A	c.(1624-1626)Gac>Aac	p.D542N	EIF2D_ENST00000367114.3_Missense_Mutation_p.D418N|EIF2D_ENST00000472709.2_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	542	SUI1. {ECO:0000255|PROSITE- ProRule:PRU00200}.				formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGAAGGCTGTCCTTGGCCCCA	0.592																																																	0													97.0	81.0	87.0					1																	206767028		2203	4300	6503	SO:0001583	missense	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1624G>A	1.37:g.206767028C>T	ENSP00000271764:p.Asp542Asn		Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.D542N	ENST00000271764.2	37	c.1624	CCDS1465.1	1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173088	0.57584	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.32023	1.47;1.47	5.68	5.68	0.88126	Translation initiation factor SUI1 (3);	0.043265	0.85682	D	0.000000	T	0.29491	0.0735	L	0.42245	1.32	0.58432	D	0.999999	B;B	0.24426	0.103;0.014	B;B	0.25140	0.029;0.058	T	0.06232	-1.0838	10	0.15952	T	0.53	-8.1287	18.7742	0.91904	0.0:1.0:0.0:0.0	.	418;542	P41214-2;P41214	.;EIF2D_HUMAN	N	418;542	ENSP00000356081:D418N;ENSP00000271764:D542N	ENSP00000271764:D542N	D	-	1	0	EIF2D	204833651	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.867000	0.69597	2.676000	0.91093	0.563000	0.77884	GAC	EIF2D	-	pfam_TIF_SUI1,superfamily_TIF_SUI1,pfscan_TIF_SUI1	ENSG00000143486		0.592	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	-	0.00	71	0	C	NM_006893		206767028	-1	tier1	-	no_errors	ENST00000271764	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T
ELOVL7	79993	genome.wustl.edu	37	5	60053363	60053363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:60053363C>T	ENST00000508821.1	-	8	923	c.609G>A	c.(607-609)tgG>tgA	p.W203*	ELOVL7_ENST00000438340.1_Nonsense_Mutation_p.W203*|ELOVL7_ENST00000425382.1_Nonsense_Mutation_p.W203*|ELOVL7_ENST00000505959.1_Nonsense_Mutation_p.W190*	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	203					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AATATTTTTTCCACCACAAAT	0.368																																																	0													81.0	81.0	81.0					5																	60053363		2203	4300	6503	SO:0001587	stop_gained	0			AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.609G>A	5.37:g.60053363C>T	ENSP00000424123:p.Trp203*		Q589T3|Q9H5D0|Q9NT66	Nonsense_Mutation	SNP	pfam_GNS1_SUR4	p.W203*	ENST00000508821.1	37	c.609	CCDS34164.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.741797	0.98935	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3161	19.9052	0.97004	0.0:1.0:0.0:0.0	.	.	.	.	X	203;203;203;190	.	ENSP00000402634:W203X	W	-	3	0	ELOVL7	60089120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.776000	0.95493	0.655000	0.94253	TGG	ELOVL7	-	pfam_GNS1_SUR4	ENSG00000164181		0.368	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL7	HGNC	protein_coding	OTTHUMT00000368195.1	-	0.00	71	0	C			60053363	-1	tier1	-	no_errors	ENST00000425382	ensembl	human	known	74_37	nonsense	7.76	107	9	SNP	1.000	T
EMR3	84658	genome.wustl.edu	37	19	14769356	14769356	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:14769356G>T	ENST00000253673.5	-	5	462	c.362C>A	c.(361-363)aCc>aAc	p.T121N	EMR3_ENST00000344373.4_Missense_Mutation_p.T69N|EMR3_ENST00000443157.2_Intron|EMR3_ENST00000599900.1_5'UTR	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	121					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTTTGAGGAGGTGGTGTCTGC	0.498																																																	0													87.0	77.0	80.0					19																	14769356		2203	4300	6503	SO:0001583	missense	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.362C>A	19.37:g.14769356G>T	ENSP00000253673:p.Thr121Asn			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.T121N	ENST00000253673.5	37	c.362	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	G	2.091	-0.408344	0.04832	.	.	ENSG00000131355	ENST00000253673;ENST00000344373	T;T	0.09630	2.99;2.96	2.93	-2.21	0.06973	.	.	.	.	.	T	0.07818	0.0196	L	0.45581	1.43	0.09310	N	1	P;P	0.49635	0.926;0.788	P;B	0.44447	0.45;0.405	T	0.24154	-1.0168	9	0.13108	T	0.6	.	1.56	0.02593	0.1165:0.1797:0.3372:0.3666	.	69;121	Q9BY15-2;Q9BY15	.;EMR3_HUMAN	N	121;69	ENSP00000253673:T121N;ENSP00000340758:T69N	ENSP00000253673:T121N	T	-	2	0	EMR3	14630356	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	-0.313000	0.08728	-0.459000	0.05422	ACC	EMR3	-	NULL	ENSG00000131355		0.498	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1		0.00	49	0	G	NM_032571		14769356	-1			no_errors	ENST00000253673	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.000	T
TUBB8P12	260334	genome.wustl.edu	37	18	73353	73353	+	IGR	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:73353G>A								RP11-683L23.1 (23113 upstream) : ROCK1P1 (35711 downstream)																							CTGCAGCAGCGTCTCCCTGTC	0.706																																																	0																																										SO:0001628	intergenic_variant	0																															18.37:g.73353G>A				RNA	SNP	-	NULL		37	NULL		18																																																																																			RP11-683L23.1	-	-	ENSG00000173213	0	0.706					ENSG00000173213	Clone_based_vega_gene			-	0.00	38	0	G			73353	-1	tier1	-	no_errors	ENST00000572530	ensembl	human	known	74_37	rna	21.57	40	11	SNP	0.001	A
Unknown	0	genome.wustl.edu	37	4	2446901	2446901	+	IGR	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:2446901G>A								RP11-503N18.1 (15929 upstream) : RP11-503N18.3 (4798 downstream)																							CCTGGAGGGCGTGTCTGCCAG	0.552																																																	0																																										SO:0001628	intergenic_variant	0																															4.37:g.2446901G>A				RNA	SNP	-	NULL		37	NULL		4																																																																																			RP11-503N18.1	-	-	ENSG00000206113	0	0.552					ENSG00000206113	Clone_based_vega_gene			-	0.00	147	0	G			2446901	+1	tier1	-	no_errors	ENST00000514556	ensembl	human	known	74_37	rna	18.89	73	17	SNP	0.000	A
PHACTR1	221692	genome.wustl.edu	37	6	13281263	13281263	+	Intron	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:13281263C>T	ENST00000379335.3	+	3	306				PHACTR1_ENST00000332995.7_Intron|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000457702.2_Intron|RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000379329.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1						actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCATTCCCTCTGAGCACTTG	0.557																																																	0																																										SO:0001627	intron_variant	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.202-2391C>T	6.37:g.13281263C>T			A8K1V2|Q3MJ93|Q5JSJ2	RNA	SNP	-	NULL	ENST00000379335.3	37	NULL		6																																																																																			RP1-257A7.4	-	-	ENSG00000215022		0.557	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	ENSG00000215022	Clone_based_vega_gene	protein_coding	OTTHUMT00000039878.1	-	0.00	59	0	C	XM_166420		13281263	-1	tier1	-	no_errors	ENST00000606150	ensembl	human	known	74_37	rna	17.46	52	11	SNP	0.000	T
GJA9	81025	genome.wustl.edu	37	1	39341814	39341814	+	5'UTR	SNP	G	G	C	rs374468698		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:39341814G>C	ENST00000360786.3	-	0	209				MYCBP_ENST00000489803.1_5'UTR|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_5'UTR|GJA9_ENST00000357771.3_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa						cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CATCAAATAAGAGGCAGATAA	0.398																																																	0								G		0,4406		0,0,2203	35.0	38.0	37.0			1.4	0.0	1		37	1,8599		0,1,4299	no	utr-5	GJA9	NM_030772.4		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077			39341814	1,13005	2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.-44C>G	1.37:g.39341814G>C			B2R722|B3KVQ2|Q5TA63|Q96KG0	RNA	SNP	-	NULL	ENST00000360786.3	37	NULL	CCDS432.1	1																																																																																			RP5-864K19.4	-	-	ENSG00000228436		0.398	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228436	Clone_based_vega_gene	protein_coding	OTTHUMT00000001205.1	-	0.00	91	0	G	NM_030772		39341814	+1	tier1	-	no_errors	ENST00000443161	ensembl	human	known	74_37	rna	13.01	107	16	SNP	0.076	C
CAMTA2	23125	genome.wustl.edu	37	17	4877798	4877798	+	Intron	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:4877798G>C	ENST00000348066.3	-	12	2024				CAMTA2_ENST00000361571.5_Intron|CAMTA2_ENST00000414043.3_Intron|CAMTA2_ENST00000572543.1_Intron|CAMTA2_ENST00000358183.4_Intron|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Intron	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2						cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGGTTGTCTGAGGGGGAACG	0.577																																																	0													99.0	77.0	84.0					17																	4877798		2203	4300	6503	SO:0001627	intron_variant	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1901-3C>G	17.37:g.4877798G>C			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	RNA	SNP	-	NULL	ENST00000348066.3	37	NULL	CCDS11063.1	17																																																																																			RP5-1050D4.2	-	-	ENSG00000234203		0.577	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000234203	Clone_based_vega_gene	protein_coding	OTTHUMT00000216876.1	-	0.00	76	0	G	NM_015099		4877798	+1	tier1	-	no_errors	ENST00000430920	ensembl	human	known	74_37	rna	13.10	72	11	SNP	0.583	C
SLC35G3	146861	genome.wustl.edu	37	17	33518263	33518263	+	IGR	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:33518263T>C	ENST00000297307.5	-	0	1874				RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3							integral component of membrane (GO:0016021)											AACCAGCTGGTACAACCCACT	0.448																																																	0																																										SO:0001628	intergenic_variant	0			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929		17.37:g.33518263T>C			B9EGE9	RNA	SNP	-	NULL	ENST00000297307.5	37	NULL	CCDS11293.1	17																																																																																			RP11-799D4.2	-	-	ENSG00000266981		0.448	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266981	Clone_based_vega_gene	protein_coding	OTTHUMT00000256445.2	-	0.00	26	0	T	NM_152462		33518263	+1	tier1	-	no_errors	ENST00000590144	ensembl	human	putative	74_37	rna	12.00	22	3	SNP	0.862	C
CHMP1B	57132	genome.wustl.edu	37	18	11852310	11852310	+	3'UTR	SNP	A	A	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:11852310A>G	ENST00000526991.2	+	0	916				GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000269162.5_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B						cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						AAAGTTCTGTATAGCTCGTAA	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.*200A>G	18.37:g.11852310A>G			Q96E89|Q9HD41	RNA	SNP	-	NULL	ENST00000526991.2	37	NULL	CCDS54180.1	18																																																																																			RP11-78A19.3	-	-	ENSG00000267165		0.363	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267165	Clone_based_vega_gene	protein_coding	OTTHUMT00000386375.2	-	0.00	63	0	A	NM_020412		11852310	-1	tier1	-	no_errors	ENST00000586474	ensembl	human	known	74_37	rna	15.91	73	14	SNP	0.001	G
EPG5	57724	genome.wustl.edu	37	18	43510751	43510751	+	Missense_Mutation	SNP	T	T	C	rs61736031	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:43510751T>C	ENST00000282041.5	-	12	2337	c.2303A>G	c.(2302-2304)aAt>aGt	p.N768S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	768					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTCTGAGCTATTCATAGAAGA	0.368													T|||	2	0.000399361	0.0015	0.0	5008	,	,		16380	0.0		0.0	False		,,,				2504	0.0																0								T	SER/ASN	7,3629		0,7,1811	50.0	48.0	48.0		2303	5.9	1.0	18	dbSNP_129	48	0,8138		0,0,4069	yes	missense	EPG5	NM_020964.2	46	0,7,5880	CC,CT,TT		0.0,0.1925,0.0595	benign	768/2580	43510751	7,11767	1818	4069	5887	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2303A>G	18.37:g.43510751T>C	ENSP00000282041:p.Asn768Ser		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.N768S	ENST00000282041.5	37	c.2303	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384734	0.61845	0.001925	0.0	ENSG00000152223	ENST00000282041	T	0.08807	3.05	5.87	5.87	0.94306	.	0.593042	0.18913	N	0.127708	T	0.21022	0.0506	L	0.43152	1.355	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.04621	-1.0938	10	0.14656	T	0.56	-22.9466	16.5764	0.84681	0.0:0.0:0.0:1.0	.	768;768	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	S	768	ENSP00000282041:N768S	ENSP00000282041:N768S	N	-	2	0	EPG5	41764749	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.079000	0.76829	2.371000	0.80710	0.533000	0.62120	AAT	EPG5	-	NULL	ENSG00000152223		0.368	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	-	0.00	142	0	T	NM_020964		43510751	-1	tier1	rs61736031	no_errors	ENST00000282041	ensembl	human	known	74_37	missense	20.21	75	19	SNP	1.000	C
ATP9B	374868	genome.wustl.edu	37	18	77013611	77013611	+	Intron	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:77013611C>G	ENST00000426216.2	+	12	1285				RP11-1136J12.1_ENST00000591742.1_RNA|ATP9B_ENST00000307671.7_Intron	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B						establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		ATTTATCTTTCTCAGTATGAA	0.333																																																	0																																										SO:0001627	intron_variant	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1268+70C>G	18.37:g.77013611C>G			O60872|Q08AD8|Q08AD9	RNA	SNP	-	NULL	ENST00000426216.2	37	NULL	CCDS12014.1	18																																																																																			RP11-1136J12.1	-	-	ENSG00000267628		0.333	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ENSG00000267628	Clone_based_vega_gene	protein_coding	OTTHUMT00000256402.3	-	0.00	40	0	C	NM_198531		77013611	-1	tier1	-	no_errors	ENST00000591742	ensembl	human	known	74_37	rna	29.17	34	14	SNP	0.002	G
ERBB3	2065	genome.wustl.edu	37	12	56487277	56487277	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:56487277C>T	ENST00000267101.3	+	12	1863	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.R416W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	475					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAAGGTGCTTCGGGGGCCTAC	0.547																																																	0													77.0	77.0	77.0					12																	56487277		2203	4300	6503	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1423C>T	12.37:g.56487277C>T	ENSP00000267101:p.Arg475Trp		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R475W	ENST00000267101.3	37	c.1423	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456923	0.84317	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.46063	0.88;0.88	5.16	5.16	0.70880	.	0.114383	0.39475	N	0.001348	T	0.44726	0.1307	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.54140	0.715;0.743	T	0.46775	-0.9167	10	0.72032	D	0.01	.	17.5796	0.87963	0.0:1.0:0.0:0.0	.	475;475	B4DGQ7;P21860	.;ERBB3_HUMAN	W	475;416	ENSP00000267101:R475W;ENSP00000408340:R416W	ENSP00000267101:R475W	R	+	1	2	ERBB3	54773544	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.998000	0.57024	2.676000	0.91093	0.655000	0.94253	CGG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3		0.00	47	0	C			56487277	+1			no_errors	ENST00000267101	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
ESRRA	2101	genome.wustl.edu	37	11	64081786	64081786	+	Missense_Mutation	SNP	C	C	T	rs45585533		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:64081786C>T	ENST00000405666.1	+	4	752	c.518C>T	c.(517-519)cCg>cTg	p.P173L	ESRRA_ENST00000000442.6_Missense_Mutation_p.P173L|ESRRA_ENST00000406310.1_Missense_Mutation_p.P173L	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	173					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CTGCCCTTCCCGGGCCCCTTC	0.672																																																	0								C	LEU/PRO	0,3764		0,0,1882	14.0	21.0	19.0		518	4.0	1.0	11	dbSNP_127	19	1,8189		0,1,4094	no	missense	ESRRA	NM_004451.3	98	0,1,5976	TT,TC,CC		0.0122,0.0,0.0084	benign	173/424	64081786	1,11953	1882	4095	5977	SO:0001583	missense	0			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.518C>T	11.37:g.64081786C>T	ENSP00000384851:p.Pro173Leu		Q14514	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P173L	ENST00000405666.1	37	c.518	CCDS41667.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.90|18.90	3.722355|3.722355	0.68959|0.68959	0.0|0.0	1.22E-4|1.22E-4	ENSG00000173153|ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666|ENST00000545035	D;D;D;D|.	0.92595|.	-3.01;-3.07;-1.68;-3.07|.	3.99|3.99	3.99|3.99	0.46301|0.46301	Nuclear hormone receptor, ligand-binding (1);|.	0.192282|.	0.45867|.	D|.	0.000331|.	T|T	0.28566|0.28566	0.0707|0.0707	N|N	0.02345|0.02345	-0.59|-0.59	0.50813|0.50813	D|D	0.999897|0.999897	B;B|.	0.22851|.	0.003;0.076|.	B;B|.	0.08055|.	0.0;0.003|.	T|T	0.15065|0.15065	-1.0450|-1.0450	10|5	0.22706|.	T|.	0.39|.	.|.	11.7985|11.7985	0.52114|0.52114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173;173|.	P11474-2;P11474|.	.;ERR1_HUMAN|.	L|W	173;173;30;173|11	ENSP00000385971:P173L;ENSP00000000442:P173L;ENSP00000439896:P30L;ENSP00000384851:P173L|.	ENSP00000000442:P173L|.	P|R	+|+	2|1	0|2	ESRRA|ESRRA	63838362|63838362	0.936000|0.936000	0.31750|0.31750	0.975000|0.975000	0.42487|0.42487	0.968000|0.968000	0.65278|0.65278	2.825000|2.825000	0.48096|0.48096	2.232000|2.232000	0.73038|0.73038	0.462000|0.462000	0.41574|0.41574	CCG|CGG	ESRRA	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000173153		0.672	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ESRRA	HGNC	protein_coding	OTTHUMT00000319304.1	-	0.00	95	0	C	NM_004451		64081786	+1	tier1	-	no_errors	ENST00000000442	ensembl	human	known	74_37	missense	12.50	63	9	SNP	0.995	T
FAM193A	8603	genome.wustl.edu	37	4	2696769	2696769	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:2696769G>A	ENST00000324666.5	+	15	2667	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	FAM193A_ENST00000545951.1_Silent_p.E772E|FAM193A_ENST00000505311.1_Silent_p.E772E|FAM193A_ENST00000382839.3_Silent_p.E772E|FAM193A_ENST00000502458.1_Silent_p.E794E	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	772										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCTGCTCTGAGCACAGCTCCA	0.602																																																	0													99.0	70.0	80.0					4																	2696769		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2316G>A	4.37:g.2696769G>A			B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	NULL	p.E772	ENST00000324666.5	37	c.2316	CCDS58875.1	4																																																																																			FAM193A	-	NULL	ENSG00000125386		0.602	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	-	0.00	58	0	G	NM_003704		2696769	+1	tier1	-	no_errors	ENST00000324666	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	A
EVC	2121	genome.wustl.edu	37	4	5735137	5735137	+	Missense_Mutation	SNP	C	C	T	rs201583621		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:5735137C>T	ENST00000264956.6	+	5	861	c.677C>T	c.(676-678)aCg>aTg	p.T226M	EVC_ENST00000382674.2_Missense_Mutation_p.T226M|EVC_ENST00000509451.1_Missense_Mutation_p.T226M	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	226					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T226M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CATTTGGACACGGCACTGAGG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		21258	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	endometrium(1)						C	MET/THR	0,4406		0,0,2203	307.0	283.0	291.0		677	2.9	0.0	4		291	2,8598	2.2+/-6.3	0,2,4298	yes	missense	EVC	NM_153717.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	226/993	5735137	2,13004	2203	4300	6503	SO:0001583	missense	0			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.677C>T	4.37:g.5735137C>T	ENSP00000264956:p.Thr226Met			Missense_Mutation	SNP	NULL	p.T226M	ENST00000264956.6	37	c.677	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	C	3.901	-0.021972	0.07634	0.0	2.33E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.54479	0.57;0.57;0.61	4.73	2.88	0.33553	.	0.947586	0.08861	N	0.883086	T	0.37265	0.0997	N	0.19112	0.55	0.09310	N	1	B	0.25719	0.132	B	0.19148	0.024	T	0.26744	-1.0094	10	0.52906	T	0.07	.	9.2585	0.37597	0.1429:0.7772:0.0:0.0798	.	226	P57679	EVC_HUMAN	M	226	ENSP00000264956:T226M;ENSP00000372120:T226M;ENSP00000426774:T226M	ENSP00000264956:T226M	T	+	2	0	EVC	5786038	0.000000	0.05858	0.006000	0.13384	0.078000	0.17371	0.536000	0.23129	1.121000	0.41925	-0.143000	0.13931	ACG	EVC	-	NULL	ENSG00000072840		0.478	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1		0.00	39	0	C			5735137	+1			no_errors	ENST00000264956	ensembl	human	known	74_37	missense	6.67	41	3	SNP	0.007	T
FAM220A	84792	genome.wustl.edu	37	7	6370417	6370417	+	Silent	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:6370417T>C	ENST00000313324.4	-	2	836	c.369A>G	c.(367-369)gaA>gaG	p.E123E	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	123						nucleus (GO:0005634)											GCCCCAGAGCTTCAACACCAC	0.622																																																	0													42.0	43.0	43.0					7																	6370417		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.369A>G	7.37:g.6370417T>C			Q75ML2|Q8NA52|Q9BRR7	Silent	SNP	NULL	p.E123	ENST00000313324.4	37	c.369	CCDS34599.1	7																																																																																			FAM220A	-	NULL	ENSG00000178397		0.622	FAM220A-001	KNOWN	basic|CCDS	protein_coding	FAM220A	HGNC	protein_coding	OTTHUMT00000242853.2	-	0.00	106	0	T	NM_001037163		6370417	-1	tier1	-	no_errors	ENST00000313324	ensembl	human	known	74_37	silent	10.53	102	12	SNP	0.000	C
FAM65A	79567	genome.wustl.edu	37	16	67577114	67577114	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:67577114C>T	ENST00000379312.3	+	13	2558	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S	FAM65A_ENST00000422602.2_Missense_Mutation_p.P829S|FAM65A_ENST00000540839.3_Missense_Mutation_p.P829S|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.P809S|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.P823S	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	813						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGCCAGTTTCCTGAGCTGCA	0.672																																																	0													14.0	13.0	13.0					16																	67577114		2195	4294	6489	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2437C>T	16.37:g.67577114C>T	ENSP00000368614:p.Pro813Ser		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.P829S	ENST00000379312.3	37	c.2485	CCDS54028.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.934034|3.934034	0.73442|0.73442	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|T	0.38887|0.42131	1.11;1.11;1.11|0.98	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58148|0.58148	0.2102|0.2102	M|M	0.72894|0.72894	2.215|2.215	0.34837|0.34837	D|D	0.740282|0.740282	P;P;P;P|.	0.48503|.	0.899;0.899;0.899;0.911|.	P;P;P;B|.	0.54060|.	0.741;0.741;0.741;0.339|.	T|T	0.67665|0.67665	-0.5612|-0.5612	10|6	0.66056|.	D|.	0.02|.	-14.6497|-14.6497	15.778|15.778	0.78240|0.78240	0.1366:0.8634:0.0:0.0|0.1366:0.8634:0.0:0.0	.|.	823;829;813;829|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	S|F	813;809;829;823|803	ENSP00000368614:P813S;ENSP00000042381:P809S;ENSP00000400099:P829S|ENSP00000389456:S803F	ENSP00000042381:P809S|.	P|S	+|+	1|2	0|0	FAM65A|FAM65A	66134615|66134615	0.996000|0.996000	0.38824|0.38824	0.941000|0.941000	0.38009|0.38009	0.941000|0.941000	0.58515|0.58515	3.625000|3.625000	0.54238|0.54238	2.624000|2.624000	0.88883|0.88883	0.555000|0.555000	0.69702|0.69702	CCT|TCC	FAM65A	-	NULL	ENSG00000039523		0.672	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	-	0.00	200	0	C	NM_024519		67577114	+1	tier1	-	no_errors	ENST00000422602	ensembl	human	known	74_37	missense	17.81	180	39	SNP	0.991	T
FANCB	2187	genome.wustl.edu	37	X	14863402	14863402	+	Silent	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:14863402C>G	ENST00000324138.3	-	7	1656	c.1503G>C	c.(1501-1503)ctG>ctC	p.L501L	FANCB_ENST00000398334.1_Silent_p.L501L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	501					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TCACATCATTCAGGGACCTGT	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													54.0	54.0	54.0					X																	14863402		2195	4280	6475	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1503G>C	X.37:g.14863402C>G			B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	NULL	p.L501	ENST00000324138.3	37	c.1503	CCDS14161.1	X																																																																																			FANCB	-	NULL	ENSG00000181544		0.323	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	-	0.00	35	0	C	NM_152633		14863402	-1	tier1	-	no_errors	ENST00000324138	ensembl	human	known	74_37	silent	20.51	31	8	SNP	0.000	G
FBXW12	285231	genome.wustl.edu	37	3	48423318	48423318	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:48423318C>G	ENST00000296438.5	+	9	1300	c.1114C>G	c.(1114-1116)Ctg>Gtg	p.L372V	FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000445170.1_Missense_Mutation_p.L353V|FBXW12_ENST00000415155.1_Missense_Mutation_p.L302V|FBXW12_ENST00000436231.1_Missense_Mutation_p.L215V|RN7SL321P_ENST00000581742.1_RNA	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	372										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACTGGCTTCCTGCTGCAACG	0.468																																																	0													144.0	124.0	131.0					3																	48423318		2203	4300	6503	SO:0001583	missense	0			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1114C>G	3.37:g.48423318C>G	ENSP00000296438:p.Leu372Val		E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L372V	ENST00000296438.5	37	c.1114	CCDS2764.1	3	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913529	0.17907	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.64438	1.54;-0.1;1.54;3.45	4.48	2.57	0.30868	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.892818	0.09539	N	0.788576	T	0.63295	0.2499	L	0.43152	1.355	0.09310	N	1	D;D;P;P	0.54964	0.969;0.969;0.948;0.948	P;P;P;P	0.57468	0.821;0.821;0.666;0.666	T	0.49011	-0.8983	10	0.20519	T	0.43	2.611	6.3449	0.21343	0.1805:0.7193:0.0:0.1002	.	271;353;302;372	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	V	271;372;215;353;302	ENSP00000296438:L372V;ENSP00000413866:L215V;ENSP00000406139:L353V;ENSP00000414683:L302V	ENSP00000296438:L372V	L	+	1	2	FBXW12	48398322	0.000000	0.05858	0.002000	0.10522	0.128000	0.20619	0.087000	0.14958	0.527000	0.28560	0.650000	0.86243	CTG	FBXW12	-	superfamily_Quino_amine_DH_bsu	ENSG00000164049		0.468	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	HGNC	protein_coding	OTTHUMT00000257505.1	-	0.00	91	0	C	NM_207102		48423318	+1	tier1	-	no_errors	ENST00000296438	ensembl	human	known	74_37	missense	12.94	74	11	SNP	0.002	G
FCRL3	115352	genome.wustl.edu	37	1	157650813	157650813	+	Missense_Mutation	SNP	T	T	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:157650813T>G	ENST00000368184.3	-	12	2206	c.1915A>C	c.(1915-1917)Aaa>Caa	p.K639Q	FCRL3_ENST00000368186.5_Missense_Mutation_p.K639Q|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	639						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTAGTGGTTTAGAGTGAGTG	0.577																																																	0													89.0	76.0	81.0					1																	157650813		2203	4300	6503	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1915A>C	1.37:g.157650813T>G	ENSP00000357167:p.Lys639Gln		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K645Q	ENST00000368184.3	37	c.1933	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	T	9.516	1.106962	0.20714	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.50548	0.76;0.74	4.78	0.28	0.15682	.	.	.	.	.	T	0.12390	0.0301	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26318	0.079;0.146;0.129	B;B;B	0.31946	0.045;0.05;0.138	T	0.33111	-0.9881	9	0.40728	T	0.16	.	6.0591	0.19828	0.0:0.4961:0.0:0.5039	.	639;544;639	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	Q	639	ENSP00000357169:K639Q;ENSP00000357167:K639Q	ENSP00000292392:K639Q	K	-	1	0	FCRL3	155917437	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.218000	0.09240	0.216000	0.20781	-0.182000	0.12963	AAA	FCRL3	-	NULL	ENSG00000160856		0.577	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0.00	60	0	T	NM_052939		157650813	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	18.33	49	11	SNP	0.001	G
FERMT2	10979	genome.wustl.edu	37	14	53325210	53325210	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:53325210C>T	ENST00000395631.2	-	15	2144	c.1928G>A	c.(1927-1929)tGc>tAc	p.C643Y	FERMT2_ENST00000341590.3_Missense_Mutation_p.C643Y|FERMT2_ENST00000553373.1_Missense_Mutation_p.C650Y|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000343279.4_Missense_Mutation_p.C650Y			Q96AC1	FERM2_HUMAN	fermitin family member 2	643	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AACCACTTTGCAATCTACTTC	0.408																																																	0													167.0	145.0	152.0					14																	53325210		2203	4300	6503	SO:0001583	missense	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1928G>A	14.37:g.53325210C>T	ENSP00000378993:p.Cys643Tyr		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.C650Y	ENST00000395631.2	37	c.1949	CCDS9713.1	14	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664943	0.67700	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	6.02	6.02	0.97574	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.90738	0.7093	M	0.88570	2.965	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.998;0.984	D	0.91243	0.5023	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	643;650	Q96AC1;B5TJY2	FERM2_HUMAN;.	Y	643;643;603;650;650	ENSP00000378993:C643Y;ENSP00000340391:C643Y;ENSP00000450741:C603Y;ENSP00000342858:C650Y;ENSP00000451084:C650Y	ENSP00000340391:C643Y	C	-	2	0	FERMT2	52394960	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.796000	0.85898	2.857000	0.98124	0.650000	0.86243	TGC	FERMT2	-	NULL	ENSG00000073712		0.408	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2		0.00	72	0	C	NM_006832		53325210	-1			no_errors	ENST00000343279	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
FMN2	56776	genome.wustl.edu	37	1	240371346	240371346	+	Silent	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:240371346C>A	ENST00000319653.9	+	5	3464	c.3234C>A	c.(3232-3234)ccC>ccA	p.P1078P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1078	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCCGCCCCCACTTCCCG	0.731																																																	0													2.0	3.0	3.0					1																	240371346		1440	2965	4405	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3234C>A	1.37:g.240371346C>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1078	ENST00000319653.9	37	c.3234	CCDS31069.2	1																																																																																			FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin	ENSG00000155816		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	91	0	C	XM_371352		240371346	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	23.33	46	14	SNP	0.000	A
FNDC3B	64778	genome.wustl.edu	37	3	172115069	172115069	+	Missense_Mutation	SNP	G	G	T	rs34217265		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:172115069G>T	ENST00000336824.4	+	26	3518	c.3419G>T	c.(3418-3420)gGa>gTa	p.G1140V	FNDC3B_ENST00000415807.2_Missense_Mutation_p.G1140V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.G1140V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1140	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GAGCTAAGCGGAGCCTTCAGC	0.517																																																	0													93.0	92.0	92.0					3																	172115069		2203	4300	6503	SO:0001583	missense	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3419G>T	3.37:g.172115069G>T	ENSP00000338523:p.Gly1140Val		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G1140V	ENST00000336824.4	37	c.3419	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976839	0.74360	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.39056	1.1;1.1;1.1	5.93	5.93	0.95920	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73751	-0.3884	10	0.72032	D	0.01	-18.1586	20.3334	0.98727	0.0:0.0:1.0:0.0	.	1140	Q53EP0	FND3B_HUMAN	V	1140	ENSP00000411242:G1140V;ENSP00000338523:G1140V;ENSP00000389094:G1140V	ENSP00000338523:G1140V	G	+	2	0	FNDC3B	173597763	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	9.307000	0.96226	2.818000	0.97014	0.591000	0.81541	GGA	FNDC3B	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000075420		0.517	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	-	0.00	42	0	G	NM_022763		172115069	+1	tier1	-	no_errors	ENST00000336824	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	T
FRG1B	284802	genome.wustl.edu	37	20	29631557	29631557	+	Missense_Mutation	SNP	A	A	G	rs11525721		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:29631557A>G	ENST00000278882.3	+	7	733	c.353A>G	c.(352-354)aAa>aGa	p.K118R	FRG1B_ENST00000358464.4_Missense_Mutation_p.K118R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	118								p.K118R(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTGCTGAAAAAGAAACCAAG	0.333																																																	2	Substitution - Missense(2)	endometrium(2)																																								SO:0001583	missense	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.353A>G	20.37:g.29631557A>G	ENSP00000278882:p.Lys118Arg		C4AME5	Missense_Mutation	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.K118R	ENST00000278882.3	37	c.353		20	.	.	.	.	.	.	.	.	.	.	a	0.014	-1.602257	0.00849	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	2.03	1.07	0.20283	.	0.100689	0.64402	N	0.000003	T	0.12475	0.0303	.	.	.	0.22378	N	0.999156	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	8	0.02654	T	1	.	7.0418	0.25025	0.1556:0.0:0.8444:0.0	rs11525721	118	Q9BZ01	FRG1B_HUMAN	R	118	.	ENSP00000278882:K118R	K	+	2	0	FRG1B	28245218	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	4.500000	0.60387	0.419000	0.25927	-0.343000	0.07986	AAA	FRG1B	-	pfam_FRG1	ENSG00000149531		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2		0.00	35	0	A	NR_003579		29631557	+1			no_errors	ENST00000278882	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	G
FUT10	84750	genome.wustl.edu	37	8	33247192	33247192	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:33247192G>T	ENST00000327671.5	-	4	1132	c.501C>A	c.(499-501)ttC>ttA	p.F167L	FUT10_ENST00000335589.3_Missense_Mutation_p.F105L|FUT10_ENST00000518672.1_Missense_Mutation_p.F139L|FUT10_ENST00000524021.1_Missense_Mutation_p.F139L|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	167					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CAGTGTAGTTGAACAAGGTGA	0.458																																																	0													138.0	116.0	124.0					8																	33247192		2203	4300	6503	SO:0001583	missense	0			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.501C>A	8.37:g.33247192G>T	ENSP00000332757:p.Phe167Leu		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.F167L	ENST00000327671.5	37	c.501	CCDS6088.1	8	.	.	.	.	.	.	.	.	.	.	g	18.07	3.541218	0.65085	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.17	3.19	0.36642	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	H	0.96398	3.815	0.58432	D	0.999996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.995;1.0;0.98;1.0;0.999	T	0.73199	-0.4058	10	0.87932	D	0	-0.2774	7.7362	0.28815	0.2856:0.0:0.7144:0.0	.	217;167;139;105;167;209	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	L	167;209;139;139;105	ENSP00000332757:F167L;ENSP00000430428:F139L;ENSP00000429870:F139L;ENSP00000334997:F105L	ENSP00000332757:F167L	F	-	3	2	FUT10	33366734	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	1.636000	0.37144	0.559000	0.29153	-0.260000	0.10688	TTC	FUT10	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	ENSG00000172728		0.458	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT10	HGNC	protein_coding	OTTHUMT00000376540.1	-	0.00	97	0	G	NM_032664		33247192	-1	tier1	-	no_errors	ENST00000327671	ensembl	human	known	74_37	missense	8.97	71	7	SNP	1.000	T
GAS6	2621	genome.wustl.edu	37	13	114535349	114535349	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr13:114535349C>T	ENST00000327773.6	-	10	1212	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	GAS6_ENST00000355761.4_Missense_Mutation_p.E302K|GAS6_ENST00000450766.1_Missense_Mutation_p.E83K|GAS6_ENST00000357389.3_Missense_Mutation_p.E399K|GAS6_ENST00000418959.3_Missense_Mutation_p.E57K|GAS6-AS1_ENST00000458001.1_RNA	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	399	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGCTGCAGCTCCAGCCGGCCG	0.657																																																	0													29.0	31.0	30.0					13																	114535349		2191	4284	6475	SO:0001583	missense	0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1066G>A	13.37:g.114535349C>T	ENSP00000331831:p.Glu356Lys		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.E399K	ENST00000327773.6	37	c.1195	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700070	0.88924	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	D	0.88599	0.6480	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.992;0.964	D	0.90475	0.4456	9	0.72032	D	0.01	-43.1369	17.56	0.87903	0.0:1.0:0.0:0.0	.	399;83;356	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	K	399;302;83;57;356	ENSP00000349962:E399K;ENSP00000348003:E302K;ENSP00000416498:E83K;ENSP00000400117:E57K;ENSP00000331831:E356K	ENSP00000331831:E356K	E	-	1	0	GAS6	113578594	1.000000	0.71417	0.998000	0.56505	0.743000	0.42351	4.037000	0.57311	2.128000	0.65567	0.462000	0.41574	GAG	GAS6	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000183087		0.657	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	-	0.00	50	0	C	NM_000820		114535349	-1	tier1	-	no_errors	ENST00000357389	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T
GCG	2641	genome.wustl.edu	37	2	163003871	163003871	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:163003871C>G	ENST00000418842.2	-	3	500	c.246G>C	c.(244-246)aaG>aaC	p.K82N	GCG_ENST00000375497.3_Missense_Mutation_p.K82N	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	82				K -> N (in Ref. 2; CAA27627). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						ACCTGTTCCTCTTGGTATTCA	0.418																																																	0													182.0	177.0	179.0					2																	163003871		1923	4137	6060	SO:0001583	missense	0				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.246G>C	2.37:g.163003871C>G	ENSP00000387662:p.Lys82Asn		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.K82N	ENST00000418842.2	37	c.246	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878728	0.51801	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.62364	0.03;0.03	5.5	4.56	0.56223	.	0.193856	0.53938	D	0.000045	T	0.62829	0.2460	M	0.88105	2.93	0.58432	D	0.999998	B	0.28291	0.206	B	0.27170	0.077	T	0.69774	-0.5054	10	0.87932	D	0	-0.0926	4.5685	0.12198	0.0:0.7335:0.0:0.2665	.	82	P01275	GLUC_HUMAN	N	82	ENSP00000387662:K82N;ENSP00000364647:K82N	ENSP00000364647:K82N	K	-	3	2	GCG	162712117	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.930000	0.40124	2.854000	0.98071	0.655000	0.94253	AAG	GCG	-	NULL	ENSG00000115263		0.418	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	-	0.00	65	0	C	NM_002054		163003871	-1	tier1	-	no_errors	ENST00000375497	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	G
GEMIN5	25929	genome.wustl.edu	37	5	154291332	154291332	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:154291332G>A	ENST00000285873.7	-	15	2197	c.2122C>T	c.(2122-2124)Cac>Tac	p.H708Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	708					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCCACTTGTGCACACAAAAG	0.468																																																	0													100.0	87.0	92.0					5																	154291332		2203	4300	6503	SO:0001583	missense	0			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2122C>T	5.37:g.154291332G>A	ENSP00000285873:p.His708Tyr		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	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.H708Y	ENST00000285873.7	37	c.2122	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	G	8.297	0.819144	0.16607	.	.	ENSG00000082516	ENST00000285873	T	0.59906	0.23	5.56	3.05	0.35203	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.164807	0.52532	N	0.000070	T	0.39759	0.1090	L	0.39147	1.195	0.34493	D	0.705181	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.33471	-0.9867	10	0.14252	T	0.57	-11.8372	4.7048	0.12844	0.5234:0.0:0.4766:0.0	.	707;708	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Y	708	ENSP00000285873:H708Y	ENSP00000285873:H708Y	H	-	1	0	GEMIN5	154271525	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.871000	0.63042	0.931000	0.37242	-0.658000	0.03865	CAC	GEMIN5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000082516		0.468	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	-	0.00	62	0	G			154291332	-1	tier1	-	no_errors	ENST00000285873	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
GNA15	2769	genome.wustl.edu	37	19	3162843	3162843	+	Silent	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:3162843G>T	ENST00000262958.3	+	7	1209	c.951G>T	c.(949-951)acG>acT	p.T317T		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	317					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACATGTACACGAGGATGTACA	0.612											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85.0	66.0	72.0					19																	3162843		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.951G>T	19.37:g.3162843G>T		609	E9KL40|E9KL47|O75247|Q53XK2	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.T317	ENST00000262958.3	37	c.951	CCDS12104.1	19																																																																																			GNA15	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000060558		0.612	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	-	0.00	80	0	G	NM_002068		3162843	+1	tier1	-	no_errors	ENST00000262958	ensembl	human	known	74_37	silent	12.16	65	9	SNP	0.000	T
GNPTG	84572	genome.wustl.edu	37	16	1412296	1412296	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:1412296C>T	ENST00000204679.4	+	7	544	c.501C>T	c.(499-501)ctC>ctT	p.L167L	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	167					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGACCCCCCTCGTCTGCCACC	0.682																																																	0													34.0	33.0	33.0					16																	1412296		2198	4298	6496	SO:0001819	synonymous_variant	0			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.501C>T	16.37:g.1412296C>T			B2R556|Q6XYD7|Q96L13	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L167	ENST00000204679.4	37	c.501	CCDS10436.1	16																																																																																			GNPTG	-	superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000090581		0.682	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTG	HGNC	protein_coding	OTTHUMT00000109058.2	-	0.00	113	0	C	NM_032520		1412296	+1	tier1	-	no_errors	ENST00000204679	ensembl	human	known	74_37	silent	21.52	62	17	SNP	0.179	T
GPR158	57512	genome.wustl.edu	37	10	25465155	25465155	+	Missense_Mutation	SNP	A	A	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:25465155A>T	ENST00000376351.3	+	1	1165	c.806A>T	c.(805-807)tAt>tTt	p.Y269F	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	269					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCTCCGCCTTATCTGGAGTGC	0.652																																																	0													27.0	29.0	28.0					10																	25465155		2201	4299	6500	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.806A>T	10.37:g.25465155A>T	ENSP00000365529:p.Tyr269Phe		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.Y269F	ENST00000376351.3	37	c.806	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792408	0.50102	.	.	ENSG00000151025	ENST00000376351	T	0.66099	-0.19	5.09	3.93	0.45458	.	0.245744	0.34750	N	0.003717	T	0.42063	0.1186	L	0.28344	0.845	0.54753	D	0.999981	B	0.06786	0.001	B	0.10450	0.005	T	0.26189	-1.0110	10	0.02654	T	1	.	10.1128	0.42572	0.7343:0.0:0.0:0.2657	.	269	Q5T848	GP158_HUMAN	F	269	ENSP00000365529:Y269F	ENSP00000365529:Y269F	Y	+	2	0	GPR158	25505161	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.689000	0.61723	0.925000	0.37094	0.533000	0.62120	TAT	GPR158	-	NULL	ENSG00000151025		0.652	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2		0.00	77	0	A	XM_166110		25465155	+1			no_errors	ENST00000376351	ensembl	human	known	74_37	missense	7.81	59	5	SNP	1.000	T
GRIA3	2892	genome.wustl.edu	37	X	122318457	122318457	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:122318457G>A	ENST00000371251.1	+	1	122	c.70G>A	c.(70-72)Ggt>Agt	p.G24S	GRIA3_ENST00000542149.1_Missense_Mutation_p.G24S|GRIA3_ENST00000371266.1_Missense_Mutation_p.G24S|GRIA3_ENST00000541091.1_5'Flank|GRIA3_ENST00000371264.3_Missense_Mutation_p.G24S|GRIA3_ENST00000264357.5_Missense_Mutation_p.G24S|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.G24S			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	24					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGGGCTTTTGGGTCATTCTCA	0.582																																																	0													105.0	105.0	105.0					X																	122318457		2203	4300	6503	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.70G>A	X.37:g.122318457G>A	ENSP00000360297:p.Gly24Ser		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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.G24S	ENST00000371251.1	37	c.70	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966117	0.74131	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251	T;T;T;T	0.13657	2.74;2.57;2.74;2.74	5.83	5.83	0.93111	.	0.243753	0.39341	N	0.001381	T	0.32315	0.0825	L	0.52905	1.665	0.80722	D	1	D;B;B	0.76494	0.999;0.043;0.073	D;B;B	0.65140	0.932;0.027;0.06	T	0.00531	-1.1686	10	0.44086	T	0.13	.	17.4774	0.87662	0.0:0.0:1.0:0.0	.	24;24;24	Q4TT43;P42263;P42263-2	.;GRIA3_HUMAN;.	S	24	ENSP00000264357:G24S;ENSP00000446146:G24S;ENSP00000360302:G24S;ENSP00000360297:G24S	ENSP00000264357:G24S	G	+	1	0	GRIA3	122146138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.648000	0.83479	2.453000	0.82957	0.600000	0.82982	GGT	GRIA3	-	NULL	ENSG00000125675		0.582	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	-	0.00	226	0	G	NM_000828		122318457	+1	tier1	-	no_errors	ENST00000264357	ensembl	human	known	74_37	missense	35.34	161	88	SNP	1.000	A
GRM6	2916	genome.wustl.edu	37	5	178413676	178413676	+	Missense_Mutation	SNP	G	G	A	rs149199617		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:178413676G>A	ENST00000517717.1	-	9	1617	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.R527W			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	527					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ATCTTCTTCCGCTCCCCCGGC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		16863	0.001		0.0	False		,,,				2504	0.0																0								G	TRP/ARG	0,4404		0,0,2202	36.0	33.0	34.0		1579	2.8	0.9	5	dbSNP_134	34	2,8594		0,2,4296	yes	missense	GRM6	NM_000843.3	101	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	527/878	178413676	2,12998	2202	4298	6500	SO:0001583	missense	0			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1579C>T	5.37:g.178413676G>A	ENSP00000430767:p.Arg527Trp			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,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.R527W	ENST00000517717.1	37	c.1579	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648188	0.67358	0.0	2.33E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90955	-2.76;-2.76	4.63	2.76	0.32466	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.95701	0.8602	M	0.92077	3.27	0.45330	D	0.998322	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.978	D	0.94880	0.8038	9	0.66056	D	0.02	.	10.6787	0.45802	0.0:0.0:0.4959:0.5041	.	683;527	E7EX65;O15303	.;GRM6_HUMAN	W	683;527;527	ENSP00000231188:R527W;ENSP00000430767:R527W	ENSP00000231188:R527W	R	-	1	2	GRM6	178346282	0.999000	0.42202	0.924000	0.36721	0.934000	0.57294	0.676000	0.25247	0.446000	0.26666	0.462000	0.41574	CGG	GRM6	-	pfam_GPCR_3_9-Cys_dom	ENSG00000113262		0.672	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	-	0.00	72	0	G			178413676	-1	tier1	rs149199617	no_errors	ENST00000231188	ensembl	human	known	74_37	missense	21.54	51	14	SNP	1.000	A
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G	rs202030378|rs372212945	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:72664015C>G	ENST00000425256.1	-	0	885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCC	0.507																																																	0																																												0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664015C>G				RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	-	0.00	24	0	C	NR_002164		72664015	-1	tier1	-	no_errors	ENST00000425256	ensembl	human	known	74_37	rna	27.27	16	6	SNP	0.912	G
GTPBP4	23560	genome.wustl.edu	37	10	1061784	1061784	+	Missense_Mutation	SNP	G	G	C	rs201965992		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:1061784G>C	ENST00000360803.4	+	16	1782	c.1700G>C	c.(1699-1701)aGt>aCt	p.S567T	GTPBP4_ENST00000538293.1_Missense_Mutation_p.S451T|GTPBP4_ENST00000545048.1_Missense_Mutation_p.S520T	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	567					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GTGGCCCGGAGTGGGAGTTGC	0.517																																																	0													164.0	148.0	153.0					10																	1061784		2203	4300	6503	SO:0001583	missense	0			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1700G>C	10.37:g.1061784G>C	ENSP00000354040:p.Ser567Thr		B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.S567T	ENST00000360803.4	37	c.1700	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	9.613	1.131775	0.21041	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.33438	1.42;1.41;1.41	5.67	4.76	0.60689	.	0.077131	0.85682	D	0.000000	T	0.35537	0.0935	L	0.54323	1.7	0.58432	D	0.999999	P	0.47409	0.895	P	0.45071	0.468	T	0.09378	-1.0677	10	0.33940	T	0.23	-14.6902	16.2124	0.82170	0.0:0.0:0.8662:0.1338	.	567	Q9BZE4	NOG1_HUMAN	T	567;451;520	ENSP00000354040:S567T;ENSP00000444277:S451T;ENSP00000445473:S520T	ENSP00000354040:S567T	S	+	2	0	GTPBP4	1051784	1.000000	0.71417	0.893000	0.35052	0.123000	0.20343	6.230000	0.72301	1.386000	0.46466	0.591000	0.81541	AGT	GTPBP4	-	NULL	ENSG00000107937		0.517	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	-	0.00	161	0	G	NM_012341		1061784	+1	tier1	-	no_errors	ENST00000360803	ensembl	human	known	74_37	missense	12.99	134	20	SNP	1.000	C
GYS1	2997	genome.wustl.edu	37	19	49484891	49484891	+	Silent	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:49484891C>A	ENST00000323798.3	-	8	1261	c.1065G>T	c.(1063-1065)gtG>gtT	p.V355V	GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000540532.1_Nonstop_Mutation_p.*236L|GYS1_ENST00000263276.6_Silent_p.V291V|GYS1_ENST00000541188.1_Silent_p.V275V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	355					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGCTGCCGTTCACCTGCGCAG	0.572																																																	0													104.0	84.0	91.0					19																	49484891		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1065G>T	19.37:g.49484891C>A			Q9BTT9	Nonstop_Mutation	SNP	pfam_Glycogen_synth,pfam_Starch_synth_cat_dom	p.*236L	ENST00000323798.3	37	c.707	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	c	11.35	1.612068	0.28712	.	.	ENSG00000104812	ENST00000540532	.	.	.	4.86	2.69	0.31865	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.879	3.8014	0.08760	0.1604:0.5647:0.184:0.0909	.	.	.	.	L	236	.	.	X	-	2	2	GYS1	54176703	0.062000	0.20869	0.998000	0.56505	0.581000	0.36288	-0.630000	0.05502	0.554000	0.29061	0.506000	0.49869	TGA	GYS1	-	NULL	ENSG00000104812		0.572	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	-	0.00	80	0	C	NM_002103		49484891	-1	tier1	-	no_errors	ENST00000540532	ensembl	human	known	74_37	nonstop	13.43	58	9	SNP	1.000	A
HBA2	3040	genome.wustl.edu	37	16	223305	223305	+	Missense_Mutation	SNP	C	C	T	rs281864876		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:223305C>T	ENST00000251595.6	+	2	343	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	HBA2_ENST00000397806.1_Missense_Mutation_p.R61W	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	93			R -> Q (in J-Cape Town; O(2) affinity up).|R -> W (in Cemenelum; O(2) affinity up). {ECO:0000269|PubMed:8148419}.		bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	GCACAAGCTTCGGGTGGACCC	0.692											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(107;1340 2104 14383 27419)												0													4.0	6.0	5.0					16																	223305		1844	4038	5882	SO:0001583	missense	0			BC008572	CCDS10398.1	16p13.3	2014-05-19			ENSG00000188536	ENSG00000188536			4824	protein-coding gene	gene with protein product		141850				6452630, 2649166	Standard	NM_000517		Approved	HBA-T2	uc002cfv.4	P69905	OTTHUMG00000059924	ENST00000251595.6:c.277C>T	16.37:g.223305C>T	ENSP00000251595:p.Arg93Trp	586	P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_a,prints_Haemoglobin_pi,pfscan_Globin	p.R93W	ENST00000251595.6	37	c.277	CCDS10398.1	16	.	.	.	.	.	.	.	.	.	.	c	14.82	2.648250	0.47258	.	.	ENSG00000188536	ENST00000251595;ENST00000534957;ENST00000397806	D;D	0.94280	-3.23;-3.39	4.22	3.16	0.36331	Globin-like (1);Globin, structural domain (1);	0.053379	0.64402	D	0.000005	D	0.96950	0.9004	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97012	0.9737	10	0.87932	D	0	-2.5941	12.5768	0.56367	0.2822:0.7177:0.0:0.0	rs34868036	93	P69905	HBA_HUMAN	W	93;61;61	ENSP00000251595:R93W;ENSP00000380908:R61W	ENSP00000251595:R93W	R	+	1	2	HBA2	163305	0.910000	0.30920	0.993000	0.49108	0.290000	0.27261	0.626000	0.24492	0.742000	0.32697	0.546000	0.68486	CGG	HBA2	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000188536		0.692	HBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBA2	HGNC	protein_coding	OTTHUMT00000133194.1	-	0.00	88	0	C	NM_000517		223305	+1	tier1	-	no_errors	ENST00000251595	ensembl	human	known	74_37	missense	11.63	76	10	SNP	0.961	T
HCN1	348980	genome.wustl.edu	37	5	45262502	45262502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:45262502G>A	ENST00000303230.4	-	8	2251	c.2194C>T	c.(2194-2196)Cag>Tag	p.Q732*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	732	Gln-rich.				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						tgcggctgctgttgcATGAGT	0.652																																																	0													27.0	29.0	28.0					5																	45262502		2203	4300	6503	SO:0001587	stop_gained	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.2194C>T	5.37:g.45262502G>A	ENSP00000307342:p.Gln732*			Nonsense_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.Q732*	ENST00000303230.4	37	c.2194	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.363737	0.95877	.	.	ENSG00000164588	ENST00000303230	.	.	.	4.23	4.23	0.50019	.	0.150172	0.28230	N	0.016103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.8165	0.70039	0.0:0.0:1.0:0.0	.	.	.	.	X	732	.	ENSP00000307342:Q732X	Q	-	1	0	HCN1	45298259	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.996000	0.49449	1.915000	0.55452	0.655000	0.94253	CAG	HCN1	-	NULL	ENSG00000164588		0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1		0.00	55	0	G	NM_021072		45262502	-1			no_errors	ENST00000303230	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	A
HELZ2	85441	genome.wustl.edu	37	20	62192573	62192573	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:62192573G>A	ENST00000467148.1	-	14	7077	c.7008C>T	c.(7006-7008)gtC>gtT	p.V2336V	HELZ2_ENST00000427522.2_Silent_p.V1767V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2336	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGCAGAGGATGACCTCATGCC	0.612																																																	0													85.0	86.0	86.0					20																	62192573		2201	4300	6501	SO:0001819	synonymous_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7008C>T	20.37:g.62192573G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	superfamily_P-loop_NTPase	p.V2336	ENST00000467148.1	37	c.7008	CCDS33508.1	20																																																																																			HELZ2	-	superfamily_P-loop_NTPase	ENSG00000130589		0.612	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0.00	68	0	G	NM_001037335		62192573	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	12.31	56	8	SNP	0.996	A
HLA-V	352962	genome.wustl.edu	37	6	29761162	29761162	+	RNA	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:29761162C>G	ENST00000457107.1	+	0	388									major histocompatibility complex, class I, V (pseudogene)																		ggacaggtctctacagacaca	0.522																																																	0																																												0			M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761162C>G				RNA	SNP	-	NULL	ENST00000457107.1	37	NULL		6																																																																																			HLA-V	-	-	ENSG00000181126		0.522	HLA-V-003	KNOWN	basic	processed_transcript	HLA-V	HGNC	pseudogene	OTTHUMT00000105231.1	-	0.00	32	0	C	NG_002729		29761162	+1	tier1	-	no_errors	ENST00000457107	ensembl	human	known	74_37	rna	14.63	35	6	SNP	0.003	G
HMCES	56941	genome.wustl.edu	37	3	129009630	129009630	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:129009630C>G	ENST00000383463.4	+	4	525	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	HMCES_ENST00000417226.2_Intron|HMCES_ENST00000502878.2_Missense_Mutation_p.Q146E|HMCES_ENST00000389735.3_Missense_Mutation_p.Q146E	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	146							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CTATTTTCCTCAAATCAAGAC	0.408																																																	0													118.0	110.0	113.0					3																	129009630		2203	4300	6503	SO:0001583	missense	0			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.436C>G	3.37:g.129009630C>G	ENSP00000372955:p.Gln146Glu		A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	pfam_DUF159,superfamily_DUF159	p.Q146E	ENST00000383463.4	37	c.436	CCDS33852.1	3	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691040	0.68271	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000502878;ENST00000389735;ENST00000509551	.	.	.	5.26	5.26	0.73747	.	0.055509	0.64402	D	0.000001	T	0.67154	0.2863	L	0.58669	1.825	0.80722	D	1	D	0.57571	0.98	P	0.54270	0.747	T	0.70586	-0.4831	9	0.66056	D	0.02	-21.193	16.3362	0.83062	0.0:1.0:0.0:0.0	.	146	Q96FZ2	CC037_HUMAN	E	98;146;146;146;146	.	ENSP00000372955:Q146E	Q	+	1	0	C3orf37	130492320	1.000000	0.71417	0.950000	0.38849	0.730000	0.41778	4.723000	0.61965	2.439000	0.82584	0.585000	0.79938	CAA	HMCES	-	pfam_DUF159,superfamily_DUF159	ENSG00000183624		0.408	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCES	HGNC	protein_coding	OTTHUMT00000355470.2	-	0.00	133	0	C	NM_020187		129009630	+1	tier1	-	no_errors	ENST00000383463	ensembl	human	known	74_37	missense	27.27	104	39	SNP	1.000	G
HOXB7	3217	genome.wustl.edu	37	17	46687889	46687889	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:46687889C>T	ENST00000239165.7	-	1	490	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	HOXB7_ENST00000567101.2_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	131					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						ACCTGAGCTTCGCATCCAGGG	0.701																																																	0													8.0	10.0	9.0					17																	46687889		2072	4093	6165	SO:0001583	missense	0				CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.392G>A	17.37:g.46687889C>T	ENSP00000239165:p.Arg131Gln		A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.R131Q	ENST00000239165.7	37	c.392	CCDS11532.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454583	0.84209	.	.	ENSG00000120087	ENST00000239165	D	0.95588	-3.75	4.13	4.13	0.48395	Homeodomain-related (1);Homeobox protein, antennapedia type, conserved site (1);	0.143609	0.41500	D	0.000879	D	0.95812	0.8637	L	0.52364	1.645	0.54753	D	0.999987	D	0.67145	0.996	P	0.58266	0.836	D	0.95568	0.8635	10	0.48119	T	0.1	.	15.1164	0.72407	0.0:1.0:0.0:0.0	.	131	P09629	HXB7_HUMAN	Q	131	ENSP00000239165:R131Q	ENSP00000239165:R131Q	R	-	2	0	HOXB7	44042888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.138000	0.77305	2.143000	0.66587	0.561000	0.74099	CGA	HOXB7	-	prints_Homeobox_antennapedia	ENSG00000260027		0.701	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB7	HGNC	protein_coding	OTTHUMT00000358097.3	-	0.00	127	0	C			46687889	-1	tier1	-	no_errors	ENST00000239165	ensembl	human	known	74_37	missense	7.55	98	8	SNP	1.000	T
HRH2	3274	genome.wustl.edu	37	5	175111023	175111023	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:175111023G>A	ENST00000231683.2	+	1	2560	c.787G>A	c.(787-789)Gat>Aat	p.D263N	HRH2_ENST00000377291.2_Missense_Mutation_p.D263N	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	263					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.D263N(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GAGAGGGGATGATGCCATCAA	0.567																																																	1	Substitution - Missense(1)	cervix(1)											137.0	111.0	120.0					5																	175111023		2203	4300	6503	SO:0001583	missense	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.787G>A	5.37:g.175111023G>A	ENSP00000231683:p.Asp263Asn		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.D263N	ENST00000231683.2	37	c.787	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901564	0.17760	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.70986	-0.53;-0.53	4.13	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.776405	0.12297	N	0.481518	T	0.44932	0.1317	N	0.10733	0.035	0.09310	N	1	B;B	0.15719	0.004;0.014	B;B	0.25759	0.026;0.063	T	0.30707	-0.9969	10	0.15952	T	0.53	.	3.7832	0.08689	0.3231:0.1932:0.4837:0.0	.	263;263	P25021;Q7Z5R9	HRH2_HUMAN;.	N	263	ENSP00000366506:D263N;ENSP00000231683:D263N	ENSP00000231683:D263N	D	+	1	0	HRH2	175043629	0.002000	0.14202	0.008000	0.14137	0.773000	0.43773	0.915000	0.28638	0.404000	0.25506	0.555000	0.69702	GAT	HRH2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt	ENSG00000113749		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1		0.00	44	0	G			175111023	+1			no_errors	ENST00000377291	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	A
HSPG2	3339	genome.wustl.edu	37	1	22149948	22149948	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:22149948delC	ENST00000374695.3	-	97	13116	c.13037delG	c.(13036-13038)ggcfs	p.G4346fs	LDLRAD2_ENST00000543870.1_Intron|HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4346	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGAGAATCTGCCCCCGGTCAG	0.716																																																	0													14.0	13.0	13.0					1																	22149948		2194	4286	6480	SO:0001589	frameshift_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.13037delG	1.37:g.22149948delC	ENSP00000363827:p.Gly4346fs		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.G4346fs	ENST00000374695.3	37	c.13037	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000142798		0.716	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0.00	29	0	C	NM_005529		22149948	-1	tier1		no_errors	ENST00000374695	ensembl	human	known	74_37	frame_shift_del	10.71	25	3	DEL	1.000	-
IDE	3416	genome.wustl.edu	37	10	94274755	94274755	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:94274755C>G	ENST00000265986.6	-	5	762	c.706G>C	c.(706-708)Gat>Cat	p.D236H		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	236					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TGTCTTACATCAATGCCTTCT	0.358																																																	0													186.0	192.0	190.0					10																	94274755		2203	4300	6503	SO:0001583	missense	0			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.706G>C	10.37:g.94274755C>G	ENSP00000265986:p.Asp236His		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.D236H	ENST00000265986.6	37	c.706	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909985	0.92107	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T	0.38077	1.16	6.06	6.06	0.98353	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.77616	2.38	0.80722	D	1	D	0.63046	0.992	P	0.59889	0.865	T	0.62746	-0.6789	10	0.87932	D	0	-23.897	20.6208	0.99490	0.0:1.0:0.0:0.0	.	236	P14735	IDE_HUMAN	H	236;222	ENSP00000265986:D236H	ENSP00000265986:D236H	D	-	1	0	IDE	94264735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.768000	0.85345	2.882000	0.98803	0.655000	0.94253	GAT	IDE	-	superfamily_Metalloenz_LuxS/M16	ENSG00000119912		0.358	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	-	0.00	93	0	C	NM_004969		94274755	-1	tier1	-	no_errors	ENST00000265986	ensembl	human	known	74_37	missense	12.80	109	16	SNP	1.000	G
IGF2BP1	10642	genome.wustl.edu	37	17	47103868	47103868	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:47103868A>G	ENST00000290341.3	+	4	660	c.326A>G	c.(325-327)aAc>aGc	p.N109S	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.N109S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	109	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGTAGAGAACTGTGAGCAA	0.512																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													134.0	118.0	123.0					17																	47103868		2203	4300	6503	SO:0001583	missense	0			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.326A>G	17.37:g.47103868A>G	ENSP00000290341:p.Asn109Ser		C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.N109S	ENST00000290341.3	37	c.326	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	A	10.77	1.445370	0.25987	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.13901	2.55;3.54	5.7	3.06	0.35304	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.098800	0.64402	N	0.000002	T	0.07052	0.0179	N	0.12471	0.22	0.18873	N	0.999989	B;B	0.16396	0.001;0.017	B;B	0.24006	0.0;0.05	T	0.39251	-0.9623	10	0.18276	T	0.48	-27.6286	8.2802	0.31896	0.7978:0.0:0.2022:0.0	.	109;109	C9JT33;Q9NZI8	.;IF2B1_HUMAN	S	109	ENSP00000290341:N109S;ENSP00000389135:N109S	ENSP00000290341:N109S	N	+	2	0	IGF2BP1	44458867	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.196000	0.32198	0.948000	0.37687	-0.408000	0.06270	AAC	IGF2BP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000159217		0.512	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	-	0.00	84	0	A	NM_006546		47103868	+1	tier1	-	no_errors	ENST00000290341	ensembl	human	known	74_37	missense	25.95	97	34	SNP	1.000	G
IGSF3	3321	genome.wustl.edu	37	1	117156526	117156526	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:117156526G>A	ENST00000369486.3	-	4	1458	c.693C>T	c.(691-693)ctC>ctT	p.L231L	IGSF3_ENST00000369483.1_Silent_p.L231L|IGSF3_ENST00000318837.6_Silent_p.L231L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	231	Ig-like C2-type 2.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGAAGATGGTGAGGCGGAAGG	0.607																																																	0													37.0	36.0	36.0					1																	117156526		2203	4299	6502	SO:0001819	synonymous_variant	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.693C>T	1.37:g.117156526G>A			A6NJZ6|A6NMC7	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L231	ENST00000369486.3	37	c.693	CCDS30813.1	1																																																																																			IGSF3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143061		0.607	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	0.00	86	0	G	NM_001542		117156526	-1	tier1	-	no_errors	ENST00000318837	ensembl	human	known	74_37	silent	9.82	100	11	SNP	1.000	A
IL17F	112744	genome.wustl.edu	37	6	52103596	52103596	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:52103596G>C	ENST00000336123.4	-	2	293	c.186C>G	c.(184-186)atC>atG	p.I62M		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	62					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GGTTTTCATTGATGATGCCAA	0.478																																																	0													86.0	86.0	86.0					6																	52103596		2203	4300	6503	SO:0001583	missense	0			AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.186C>G	6.37:g.52103596G>C	ENSP00000337432:p.Ile62Met		Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	pfam_IL-17_fam,prints_IL-17_chr	p.I62M	ENST00000336123.4	37	c.186	CCDS4938.1	6	.	.	.	.	.	.	.	.	.	.	G	2.277	-0.365555	0.05069	.	.	ENSG00000112116	ENST00000336123	T	0.55760	0.5	5.76	1.78	0.24846	.	0.977485	0.08413	N	0.949571	T	0.15392	0.0371	N	0.19112	0.55	0.09310	N	1	P	0.39717	0.684	B	0.39562	0.303	T	0.14008	-1.0488	10	0.34782	T	0.22	-19.4919	2.3291	0.04231	0.1654:0.1518:0.526:0.1568	.	62	Q96PD4	IL17F_HUMAN	M	62	ENSP00000337432:I62M	ENSP00000337432:I62M	I	-	3	3	IL17F	52211555	0.625000	0.27111	0.088000	0.20740	0.001000	0.01503	0.940000	0.28992	0.454000	0.26884	-0.188000	0.12872	ATC	IL17F	-	pfam_IL-17_fam	ENSG00000112116		0.478	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17F	HGNC	protein_coding	OTTHUMT00000040901.3	-	0.00	147	0	G	NM_052872		52103596	-1	tier1	-	no_errors	ENST00000336123	ensembl	human	known	74_37	missense	19.08	123	29	SNP	0.034	C
IL2RG	3561	genome.wustl.edu	37	X	70327739	70327739	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:70327739C>G	ENST00000374202.2	-	8	1048	c.957G>C	c.(955-957)gaG>gaC	p.E319D	IL2RG_ENST00000456850.2_Missense_Mutation_p.E129D|CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_Missense_Mutation_p.E48D	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	319					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GCTGCAGACTCTCAGCCAGTC	0.582									Severe Combined Immunodeficiency, X-linked																																								0													36.0	31.0	33.0					X																	70327739		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.957G>C	X.37:g.70327739C>G	ENSP00000363318:p.Glu319Asp		Q5FC12	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E319D	ENST00000374202.2	37	c.957	CCDS14406.1	X	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198968	0.58126	.	.	ENSG00000147168	ENST00000374202;ENST00000456850;ENST00000374188	D;D;D	0.98075	-3.92;-4.7;-1.93	4.39	1.56	0.23342	.	0.131561	0.51477	D	0.000090	D	0.97823	0.9285	M	0.70275	2.135	0.29214	N	0.874372	D;D;D	0.76494	0.996;0.999;0.996	D;D;D	0.72625	0.978;0.939;0.978	D	0.94251	0.7493	10	0.66056	D	0.02	-20.591	7.5152	0.27596	0.0:0.6964:0.0:0.3036	.	129;319;48	Q5FC12;P31785;Q5FC10	.;IL2RG_HUMAN;.	D	319;129;48	ENSP00000363318:E319D;ENSP00000388967:E129D;ENSP00000363303:E48D	ENSP00000363303:E48D	E	-	3	2	IL2RG	70244464	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	0.525000	0.22956	0.345000	0.23873	0.468000	0.43344	GAG	IL2RG	-	NULL	ENSG00000147168		0.582	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RG	HGNC	protein_coding	OTTHUMT00000057102.2	-	0.00	154	0	C			70327739	-1	tier1	-	no_errors	ENST00000374202	ensembl	human	known	74_37	missense	21.94	119	34	SNP	0.996	G
JAG1	182	genome.wustl.edu	37	20	10653641	10653641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:10653641G>T	ENST00000254958.5	-	2	610	c.95C>A	c.(94-96)tCg>tAg	p.S32*	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	32					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GAACTGACCCGAGGCCCCACA	0.647									Alagille Syndrome																																								0													28.0	31.0	30.0					20																	10653641		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.95C>A	20.37:g.10653641G>T	ENSP00000254958:p.Ser32*		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.S32*	ENST00000254958.5	37	c.95	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	G	42	9.605736	0.99217	.	.	ENSG00000101384	ENST00000254958	.	.	.	5.34	4.39	0.52855	.	0.186305	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7244	0.62750	0.0746:0.0:0.9254:0.0	.	.	.	.	X	32	.	ENSP00000254958:S32X	S	-	2	0	JAG1	10601641	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	9.800000	0.99124	1.255000	0.44051	0.462000	0.41574	TCG	JAG1	-	pfam_Notch_ligand_N	ENSG00000101384		0.647	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		-	0.00	137	0	G	NM_000214		10653641	-1	tier1	-	no_errors	ENST00000254958	ensembl	human	known	74_37	nonsense	21.43	121	33	SNP	1.000	T
JAKMIP1	152789	genome.wustl.edu	37	4	6082040	6082040	+	Splice_Site	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:6082040C>G	ENST00000282924.5	-	7	1587		c.e7-1		JAKMIP1_ENST00000457227.2_Splice_Site|JAKMIP1_ENST00000409021.3_Splice_Site|JAKMIP1_ENST00000409371.3_Splice_Site|JAKMIP1_ENST00000410077.2_Splice_Site|JAKMIP1_ENST00000409831.1_Splice_Site	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1						cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTTTCTTTCTGCAGCCACA	0.577																																																	0													60.0	53.0	55.0					4																	6082040		2203	4300	6503	SO:0001630	splice_region_variant	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1102-1G>C	4.37:g.6082040C>G			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Splice_Site	SNP	-	e6-1	ENST00000282924.5	37	c.1102-1	CCDS3385.1	4	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625643	0.28889	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4512	0.83991	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAKMIP1	6132941	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	4.925000	0.63425	2.192000	0.70111	0.561000	0.74099	.	JAKMIP1	-	-	ENSG00000152969		0.577	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	-	0.00	55	0	C	NM_144720	Intron	6082040	-1	tier1	-	no_errors	ENST00000409021	ensembl	human	known	74_37	splice_site	9.09	40	4	SNP	1.000	G
JPH3	57338	genome.wustl.edu	37	16	87637902	87637902	+	Intron	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:87637902G>C	ENST00000284262.2	+	1	624				RP11-482M8.3_ENST00000602388.1_RNA	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3						calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		gcctgctgctgctgctgctgc	0.607																																																	0																																										SO:0001627	intron_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.382+768G>C	16.37:g.87637902G>C			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	RNA	SNP	-	NULL	ENST00000284262.2	37	NULL	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	G	5.196	0.221656	0.09863	.	.	ENSG00000154118	ENST00000301008	.	.	.	2.34	0.00944	0.14079	.	.	.	.	.	T	0.32010	0.0815	.	.	.	0.19945	N	0.999949	.	.	.	.	.	.	T	0.27502	-1.0072	5	0.29301	T	0.29	.	7.9446	0.29978	0.0:0.4986:0.5014:0.0	.	.	.	.	P	147	.	ENSP00000301008:A147P	A	+	1	0	JPH3	86195403	0.005000	0.15991	0.005000	0.12908	0.014000	0.08584	0.513000	0.22770	-0.623000	0.05618	-0.273000	0.10243	GCT	JPH3	-	-	ENSG00000154118		0.607	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2		0.00	77	0	G			87637902	+1			no_errors	ENST00000301008	ensembl	human	known	74_37	rna	6.67	56	4	SNP	0.020	C
KCNJ9	3765	genome.wustl.edu	37	1	160054107	160054107	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:160054107C>G	ENST00000368088.3	+	2	529	c.287C>G	c.(286-288)gCg>gGg	p.A96G		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	96					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGACACCGCGTGGACGCCG	0.657																																																	0													46.0	41.0	43.0					1																	160054107		2203	4300	6503	SO:0001583	missense	0			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.287C>G	1.37:g.160054107C>G	ENSP00000357067:p.Ala96Gly		Q5JW75	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3	p.A96G	ENST00000368088.3	37	c.287	CCDS1194.1	1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660737	0.14645	.	.	ENSG00000162728	ENST00000368088	D	0.94092	-3.35	4.71	4.71	0.59529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.294931	0.31709	N	0.007184	T	0.59918	0.2229	N	0.00456	-1.48	0.28719	N	0.903107	B	0.10296	0.003	B	0.18871	0.023	T	0.49466	-0.8937	10	0.05525	T	0.97	.	16.4327	0.83859	0.0:1.0:0.0:0.0	.	96	Q92806	IRK9_HUMAN	G	96	ENSP00000357067:A96G	ENSP00000357067:A96G	A	+	2	0	KCNJ9	158320731	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.381000	0.20619	2.151000	0.67156	0.430000	0.28490	GCG	KCNJ9	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir	ENSG00000162728		0.657	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	HGNC	protein_coding	OTTHUMT00000060628.1	-	0.00	96	0	C	NM_004983		160054107	+1	tier1	-	no_errors	ENST00000368088	ensembl	human	known	74_37	missense	6.25	75	5	SNP	0.969	G
KDM6A	7403	genome.wustl.edu	37	X	44949070	44949070	+	Frame_Shift_Del	DEL	A	A	-	rs367565349		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:44949070delA	ENST00000377967.4	+	25	3672	c.3631delA	c.(3631-3633)attfs	p.I1211fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.I1218fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.I1166fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.I1132fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1211	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTATAGGTTTATTCAGCGACC	0.393			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											153.0	129.0	137.0					X																	44949070		2203	4300	6503	SO:0001589	frameshift_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3631delA	X.37:g.44949070delA	ENSP00000367203:p.Ile1211fs		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I1218fs	ENST00000377967.4	37	c.3652	CCDS14265.1	X																																																																																			KDM6A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000147050		0.393	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1		0.00	90	0	A	NM_021140		44949070	+1	tier1		no_errors	ENST00000382899	ensembl	human	known	74_37	frame_shift_del	17.65	56	12	DEL	1.000	-
KERA	11081	genome.wustl.edu	37	12	91449833	91449833	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:91449833G>C	ENST00000266719.3	-	2	473	c.226C>G	c.(226-228)Ctt>Gtt	p.L76V		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	76					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TGAAGATAAAGATACCAAATT	0.363																																																	0													104.0	97.0	99.0					12																	91449833		2203	4296	6499	SO:0001583	missense	0			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.226C>G	12.37:g.91449833G>C	ENSP00000266719:p.Leu76Val			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L76V	ENST00000266719.3	37	c.226	CCDS9037.1	12	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998260	0.54147	.	.	ENSG00000139330	ENST00000266719	T	0.79033	-1.23	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	L	0.54965	1.715	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	T	0.82514	-0.0419	10	0.41790	T	0.15	-19.4628	13.4086	0.60929	0.0716:0.0:0.9284:0.0	.	76	O60938	KERA_HUMAN	V	76	ENSP00000266719:L76V	ENSP00000266719:L76V	L	-	1	0	KERA	89973964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.434000	0.73408	2.785000	0.95823	0.650000	0.86243	CTT	KERA	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000139330		0.363	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	-	0.00	89	0	G	NM_007035		91449833	-1	tier1	-	no_errors	ENST00000266719	ensembl	human	known	74_37	missense	20.45	70	18	SNP	1.000	C
KIAA0430	9665	genome.wustl.edu	37	16	15714339	15714339	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:15714339G>A	ENST00000396368.3	-	13	2895	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	KIAA0430_ENST00000602337.1_Silent_p.L894L|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Silent_p.L897L|KIAA0430_ENST00000540441.2_Silent_p.L732L|KIAA0430_ENST00000548025.1_Silent_p.L894L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	897	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AATTTAAACAGAGGCAGGCAA	0.373																																																	0													73.0	77.0	76.0					16																	15714339		1867	4103	5970	SO:0001819	synonymous_variant	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2689C>T	16.37:g.15714339G>A			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.L897	ENST00000396368.3	37	c.2689	CCDS10562.2	16																																																																																			KIAA0430	-	NULL	ENSG00000166783		0.373	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	-	0.00	106	0	G	NM_014647		15714339	-1	tier1	-	no_errors	ENST00000396368	ensembl	human	known	74_37	silent	6.84	107	8	SNP	0.998	A
KIAA0825	285600	genome.wustl.edu	37	5	93856381	93856381	+	Missense_Mutation	SNP	T	T	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:93856381T>G	ENST00000329378.7	-	5	791	c.542A>C	c.(541-543)gAa>gCa	p.E181A	KIAA0825_ENST00000312498.7_Missense_Mutation_p.E181A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.E181A|KIAA0825_ENST00000513200.3_Missense_Mutation_p.E181A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	181										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ATTGTTTATTTCATTATGGCT	0.323																																																	0													101.0	102.0	102.0					5																	93856381		2202	4300	6502	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.542A>C	5.37:g.93856381T>G	ENSP00000331385:p.Glu181Ala		O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.E181A	ENST00000329378.7	37	c.542	CCDS4070.1	5	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468077	0.43839	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.85955	0.86;0.86;-2.05;-2.05	5.51	5.51	0.81932	.	1.353990	0.04077	N	0.309011	D	0.85557	0.5724	L	0.54323	1.7	0.35762	D	0.820282	P;P	0.46142	0.873;0.649	B;B	0.39660	0.306;0.164	T	0.77167	-0.2687	10	0.48119	T	0.1	.	15.611	0.76716	0.0:0.0:0.0:1.0	.	181;181	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	181	ENSP00000424618:E181A;ENSP00000400288:E181A;ENSP00000312205:E181A;ENSP00000331385:E181A	ENSP00000312205:E181A	E	-	2	0	KIAA0825	93882137	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.723000	0.47277	2.091000	0.63221	0.477000	0.44152	GAA	KIAA0825	-	NULL	ENSG00000185261		0.323	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000371180.2	-	0.00	48	0	T	NM_173665		93856381	-1	tier1	-	no_errors	ENST00000427991	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	G
KIAA2026	158358	genome.wustl.edu	37	9	5922121	5922121	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:5922121A>G	ENST00000399933.3	-	8	3874	c.3875T>C	c.(3874-3876)gTa>gCa	p.V1292A	KIAA2026_ENST00000381461.2_Missense_Mutation_p.V1262A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1292										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGTACTTTTACAACTCCAGT	0.423																																																	0													142.0	136.0	138.0					9																	5922121		1894	4119	6013	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3875T>C	9.37:g.5922121A>G	ENSP00000382815:p.Val1292Ala		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.V1292A	ENST00000399933.3	37	c.3875		9	.	.	.	.	.	.	.	.	.	.	A	17.47	3.396573	0.62177	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.65	4.65	0.58169	.	0.000000	0.50627	D	0.000108	T	0.64394	0.2594	L	0.29908	0.895	0.40212	D	0.977634	D	0.89917	1.0	D	0.83275	0.996	T	0.65183	-0.6230	9	0.38643	T	0.18	-7.8888	14.232	0.65898	1.0:0.0:0.0:0.0	.	1292	Q5HYC2	K2026_HUMAN	A	1292;1262	.	ENSP00000370870:V1262A	V	-	2	0	KIAA2026	5912121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.687000	0.91255	1.966000	0.57179	0.454000	0.30748	GTA	KIAA2026	-	NULL	ENSG00000183354		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	-	0.00	50	0	A	NM_001017969		5922121	-1	tier1	-	no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	5.56	68	4	SNP	1.000	G
KIF7	374654	genome.wustl.edu	37	15	90176221	90176221	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:90176221C>G	ENST00000394412.3	-	14	2801	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	909					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCTGCTCCTCAATCTTCTAA	0.622																																																	0													27.0	25.0	26.0					15																	90176221		2200	4299	6499	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2725G>C	15.37:g.90176221C>G	ENSP00000377934:p.Glu909Gln		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E909Q	ENST00000394412.3	37	c.2725	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552408	0.65311	.	.	ENSG00000166813	ENST00000394412	T	0.48522	0.81	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.83275	0.811;0.996	T	0.63514	-0.6620	10	0.22109	T	0.4	.	17.9147	0.88945	0.0:1.0:0.0:0.0	.	395;909	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	909	ENSP00000377934:E909Q	ENSP00000377934:E909Q	E	-	1	0	KIF7	87977225	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	5.985000	0.70556	2.306000	0.77630	0.462000	0.41574	GAG	KIF7	-	NULL	ENSG00000166813		0.622	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	-	0.00	70	0	C	NM_198525		90176221	-1	tier1	-	no_errors	ENST00000394412	ensembl	human	known	74_37	missense	22.73	49	15	SNP	1.000	G
KLHL22	84861	genome.wustl.edu	37	22	20825674	20825674	+	Missense_Mutation	SNP	T	T	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:20825674T>A	ENST00000328879.4	-	3	512	c.356A>T	c.(355-357)aAt>aTt	p.N119I	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	119					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCTTGTACATTGCTCAGGCT	0.537																																																	0													95.0	82.0	87.0					22																	20825674		2203	4300	6503	SO:0001583	missense	0				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.356A>T	22.37:g.20825674T>A	ENSP00000331682:p.Asn119Ile		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.N119I	ENST00000328879.4	37	c.356	CCDS13780.1	22	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866019	0.51588	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.3	5.3	0.74995	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.201415	0.52532	D	0.000063	T	0.74543	0.3730	M	0.83118	2.625	0.80722	D	1	B	0.30211	0.273	B	0.34093	0.175	T	0.77070	-0.2724	10	0.87932	D	0	.	13.2002	0.59763	0.0:0.0:0.0:1.0	.	119	Q53GT1	KLH22_HUMAN	I	119;42;151;119;153;119	ENSP00000331682:N119I;ENSP00000400095:N42I;ENSP00000403999:N151I;ENSP00000398616:N119I;ENSP00000397882:N153I;ENSP00000409092:N119I	ENSP00000331682:N119I	N	-	2	0	KLHL22	19155674	0.981000	0.34729	0.996000	0.52242	0.981000	0.71138	1.848000	0.39309	2.007000	0.58848	0.528000	0.53228	AAT	KLHL22	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000099910		0.537	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL22	HGNC	protein_coding	OTTHUMT00000320045.2	-	0.00	60	0	T	NM_032775		20825674	-1	tier1	-	no_errors	ENST00000328879	ensembl	human	known	74_37	missense	48.96	49	47	SNP	0.997	A
KRT81	3887	genome.wustl.edu	37	12	52681085	52681085	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:52681085C>A	ENST00000327741.5	-	7	1116	c.1048G>T	c.(1048-1050)Gtg>Ttg	p.V350L	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	350	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V350L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACTGGGCCACCGCGGCCTCC	0.607																																																	1	Substitution - Missense(1)	lung(1)											26.0	29.0	28.0					12																	52681085		2203	4300	6503	SO:0001583	missense	0			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1048G>T	12.37:g.52681085C>A	ENSP00000369349:p.Val350Leu		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.V350L	ENST00000327741.5	37	c.1048	CCDS31805.1	12	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714119	0.48622	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.87491	-2.26	4.99	4.99	0.66335	Filament (1);	0.000000	0.37669	U	0.001993	T	0.78698	0.4324	N	0.21583	0.68	0.37093	D	0.899528	B	0.31730	0.337	B	0.33690	0.168	T	0.81232	-0.1026	10	0.72032	D	0.01	.	8.8868	0.35409	0.0:0.8247:0.0:0.1753	.	350	Q14533	KRT81_HUMAN	L	350	ENSP00000369349:V350L	ENSP00000369349:V350L	V	-	1	0	KRT81	50967352	0.587000	0.26791	0.703000	0.30354	0.205000	0.24178	1.081000	0.30791	2.303000	0.77524	0.561000	0.74099	GTG	KRT81	-	pfam_IF	ENSG00000205426		0.607	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT81	HGNC	protein_coding	OTTHUMT00000395128.2	-	0.00	58	0	C	NM_002281		52681085	-1	tier1	-	no_errors	ENST00000327741	ensembl	human	known	74_37	missense	17.19	53	11	SNP	0.952	A
KRT6A	3853	genome.wustl.edu	37	12	52884424	52884424	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:52884424C>T	ENST00000330722.6	-	5	1074	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	336	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTTGACCTCAGCGATGATG	0.582																																																	0													168.0	159.0	162.0					12																	52884424		2203	4300	6503	SO:0001583	missense	0			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1006G>A	12.37:g.52884424C>T	ENSP00000369317:p.Glu336Lys		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E336K	ENST00000330722.6	37	c.1006	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	c	28.7	4.945202	0.92593	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.92199	-2.99	5.47	5.47	0.80525	Filament (1);	0.000000	0.64402	D	0.000011	D	0.97794	0.9276	H	0.97315	3.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.98583	1.0651	10	0.72032	D	0.01	.	19.776	0.96393	0.0:1.0:0.0:0.0	.	336	P02538	K2C6A_HUMAN	K	336;292	ENSP00000369317:E336K	ENSP00000369317:E336K	E	-	1	0	KRT6A	51170691	1.000000	0.71417	0.456000	0.27044	0.509000	0.34042	4.806000	0.62569	2.764000	0.94973	0.556000	0.70494	GAG	KRT6A	-	pfam_IF,superfamily_Prefoldin	ENSG00000205420		0.582	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	-	0.00	146	0	C	NM_005554		52884424	-1	tier1	-	no_errors	ENST00000330722	ensembl	human	known	74_37	missense	7.24	141	11	SNP	1.000	T
KNTC1	9735	genome.wustl.edu	37	12	123057522	123057522	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:123057522G>T	ENST00000333479.7	+	25	2235	c.2058G>T	c.(2056-2058)agG>agT	p.R686S	KNTC1_ENST00000450485.2_Missense_Mutation_p.R649S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	686					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GTCAGCTAAGGACTTTGGTAA	0.338																																																	0													72.0	65.0	67.0					12																	123057522		1842	4087	5929	SO:0001583	missense	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2058G>T	12.37:g.123057522G>T	ENSP00000328236:p.Arg686Ser		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.R686S	ENST00000333479.7	37	c.2058	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960882	0.18583	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.22134	1.97;2.53	5.45	1.43	0.22495	.	0.476475	0.23902	N	0.043431	T	0.15089	0.0364	L	0.47716	1.5	0.09310	N	1	B;B	0.24258	0.1;0.022	B;B	0.21708	0.036;0.004	T	0.29150	-1.0021	10	0.21540	T	0.41	-5.8984	6.3838	0.21550	0.1309:0.1081:0.6499:0.1112	.	649;686	E7ES84;P50748	.;KNTC1_HUMAN	S	649;686	ENSP00000397992:R649S;ENSP00000328236:R686S	ENSP00000328236:R686S	R	+	3	2	KNTC1	121623475	0.239000	0.23836	0.010000	0.14722	0.539000	0.34962	1.563000	0.36364	-0.211000	0.10124	-0.797000	0.03246	AGG	KNTC1	-	NULL	ENSG00000184445		0.338	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0.00	127	0	G			123057522	+1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	10.00	108	12	SNP	0.000	T
KRTAP22-2	100288287	genome.wustl.edu	37	21	31962621	31962621	+	Missense_Mutation	SNP	C	C	T	rs372992485		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr21:31962621C>T	ENST00000382830.2	-	1	95	c.73G>A	c.(73-75)Gga>Aga	p.G25R	KRTAP6-3_ENST00000391624.1_5'Flank	NM_001164434.1	NP_001157906.1	Q3LI68	KR222_HUMAN	keratin associated protein 22-2	25						intermediate filament (GO:0005882)											CAGGCATATCCAGAGTTACCA	0.433																																																	0								C	ARG/GLY	0,1384		0,0,692	157.0	136.0	143.0		73	1.5	0.0	21		143	2,3180		0,2,1589	no	missense	KRTAP22-2	NM_001164434.1	125	0,2,2281	TT,TC,CC		0.0629,0.0,0.0438		25/46	31962621	2,4564	692	1591	2283	SO:0001583	missense	0			AB096950	CCDS46641.1	21q22.11	2009-11-23			ENSG00000206106	ENSG00000206106		"""Keratin associated proteins"""	37091	protein-coding gene	gene with protein product							Standard	NM_001164434		Approved	KAP22.2	uc021wih.1	Q3LI68	OTTHUMG00000065630	ENST00000382830.2:c.73G>A	21.37:g.31962621C>T	ENSP00000372281:p.Gly25Arg			Missense_Mutation	SNP	NULL	p.G25R	ENST00000382830.2	37	c.73	CCDS46641.1	21	.	.	.	.	.	.	.	.	.	.	C	9.947	1.218978	0.22373	0.0	6.29E-4	ENSG00000206106	ENST00000382830	.	.	.	4.31	1.52	0.23074	.	0.000000	0.33980	U	0.004373	T	0.40398	0.1115	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31696	-0.9934	6	0.87932	D	0	.	6.6207	0.22802	0.0:0.7035:0.0:0.2965	.	.	.	.	R	25	.	ENSP00000372281:G25R	G	-	1	0	KRTAP22-2	30884492	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.179000	0.16840	0.206000	0.20587	-0.672000	0.03802	GGA	KRTAP22-2	-	NULL	ENSG00000206106		0.433	KRTAP22-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP22-2	HGNC	protein_coding	OTTHUMT00000140633.2	-	0.00	82	0	C	XM_002343740		31962621	-1	tier1	-	no_errors	ENST00000382830	ensembl	human	known	74_37	missense	12.28	100	14	SNP	0.001	T
LAMA5	3911	genome.wustl.edu	37	20	60912869	60912869	+	Missense_Mutation	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:60912869T>C	ENST00000252999.3	-	15	2083	c.2017A>G	c.(2017-2019)Agc>Ggc	p.S673G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	673	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGACACAGCTGGGGAAGCCG	0.662																																																	0													34.0	37.0	36.0					20																	60912869		2202	4291	6493	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2017A>G	20.37:g.60912869T>C	ENSP00000252999:p.Ser673Gly		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.S673G	ENST00000252999.3	37	c.2017	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	T	4.305	0.055952	0.08291	.	.	ENSG00000130702	ENST00000252999	T	0.62639	0.01	5.13	-1.17	0.09648	EGF-like, laminin (4);	0.584825	0.18998	N	0.125406	T	0.52058	0.1711	L	0.49571	1.57	0.09310	N	0.999995	B	0.27013	0.166	B	0.31946	0.138	T	0.45425	-0.9262	10	0.27082	T	0.32	.	10.5284	0.44963	0.0:0.3121:0.0:0.6879	.	673	O15230	LAMA5_HUMAN	G	673	ENSP00000252999:S673G	ENSP00000252999:S673G	S	-	1	0	LAMA5	60346264	0.000000	0.05858	0.006000	0.13384	0.185000	0.23345	-0.445000	0.06845	-0.070000	0.12908	-0.248000	0.11899	AGC	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000130702		0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2		0.00	53	0	T	NM_005560		60912869	-1			no_errors	ENST00000252999	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.000	C
LGALS3BP	3959	genome.wustl.edu	37	17	76969204	76969204	+	Silent	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:76969204C>G	ENST00000262776.3	-	5	785	c.477G>C	c.(475-477)gtG>gtC	p.V159V	LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Silent_p.V159V	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	159	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCTGCACATTCACGCTGATGG	0.652																																					GBM(89;1105 1755 18102 21513)												0													38.0	32.0	34.0					17																	76969204		2203	4300	6503	SO:0001819	synonymous_variant	0			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.477G>C	17.37:g.76969204C>G			Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Nonstop_Mutation	SNP	NULL	p.*19S	ENST00000262776.3	37	c.56	CCDS11759.1	17																																																																																			LGALS3BP	-	NULL	ENSG00000108679		0.652	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3	-	0.00	29	0	C	NM_005567		76969204	-1	tier1	-	no_errors	ENST00000586720	ensembl	human	known	74_37	nonstop	40.00	17	12	SNP	0.119	G
LHX4	89884	genome.wustl.edu	37	1	180243439	180243439	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:180243439C>G	ENST00000263726.2	+	6	1142	c.898C>G	c.(898-900)Cag>Gag	p.Q300E	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	300					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						ACAATCCTATCAGGACTTGAG	0.542																																																	0													132.0	118.0	122.0					1																	180243439		2203	4300	6503	SO:0001583	missense	0			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.898C>G	1.37:g.180243439C>G	ENSP00000263726:p.Gln300Glu		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.Q300E	ENST00000263726.2	37	c.898	CCDS1338.1	1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957054	0.53293	.	.	ENSG00000121454	ENST00000263726	D	0.87887	-2.31	5.53	5.53	0.82687	.	0.057191	0.64402	D	0.000001	D	0.82486	0.5047	L	0.36672	1.1	0.53005	D	0.999966	B	0.22480	0.07	B	0.20184	0.028	T	0.76974	-0.2760	10	0.24483	T	0.36	.	18.2358	0.89949	0.0:1.0:0.0:0.0	.	300	Q969G2	LHX4_HUMAN	E	300	ENSP00000263726:Q300E	ENSP00000263726:Q300E	Q	+	1	0	LHX4	178510062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.522000	0.67092	2.593000	0.87608	0.655000	0.94253	CAG	LHX4	-	NULL	ENSG00000121454		0.542	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX4	HGNC	protein_coding	OTTHUMT00000084995.2	-	0.00	83	0	C	NM_033343		180243439	+1	tier1	-	no_errors	ENST00000263726	ensembl	human	known	74_37	missense	23.26	66	20	SNP	1.000	G
LINC00052	145978	genome.wustl.edu	37	15	88121557	88121558	+	lincRNA	DEL	CA	CA	-	rs147007133|rs368572077		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:88121557_88121558delCA	ENST00000560153.1	+	0	426_427				RP11-648K4.2_ENST00000560439.1_lincRNA	NR_026869.1		Q96N35	TMM83_HUMAN	long intergenic non-protein coding RNA 52							integral component of membrane (GO:0016021)											gtttctctctcACACACACACA	0.406																																																	0																																												0			AK056023		15q25.3	2012-10-12	2011-08-10	2011-08-10		ENSG00000259527		"""Long non-coding RNAs"""	26455	non-coding RNA	RNA, long non-coding			"""transmembrane protein 83"", ""non-protein coding RNA 52"""	TMEM83, NCRNA00052			Standard	NR_026869		Approved	FLJ31461	uc002bmc.1	Q96N35			15.37:g.88121567_88121568delCA				RNA	DEL	-	NULL	ENST00000560153.1	37	NULL		15																																																																																			LINC00052	-	-	ENSG00000259527		0.406	LINC00052-002	KNOWN	basic	lincRNA	LINC00052	HGNC	lincRNA	OTTHUMT00000416151.1		0.00	52	0	CA	XR_017978		88121558	+1	tier1		no_errors	ENST00000560153	ensembl	human	known	74_37	rna	11.11	56	7	DEL	0.000:0.000	-
LINC00087	644596	genome.wustl.edu	37	X	134232496	134232496	+	lincRNA	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:134232496C>T	ENST00000433425.2	-	0	168					NR_024493.1				long intergenic non-protein coding RNA 87																		AGGGGAAGTTCATGCGCAGCC	0.701																																																	0																																												0					Xq26.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000196972	ENSG00000196972		"""Long non-coding RNAs"""	34500	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 87"""	NCRNA00087			Standard	NR_024493		Approved	RP11-85L21.2	uc004eyh.2		OTTHUMG00000022468		X.37:g.134232496C>T				RNA	SNP	-	NULL	ENST00000433425.2	37	NULL		X																																																																																			LINC00087	-	-	ENSG00000196972		0.701	LINC00087-002	KNOWN	basic	lincRNA	LINC00087	HGNC	lincRNA	OTTHUMT00000058396.2	-	0.00	151	0	C			134232496	-1	tier1	-	no_errors	ENST00000433425	ensembl	human	known	74_37	rna	5.48	138	8	SNP	1.000	T
LMLN	89782	genome.wustl.edu	37	3	197751587	197751587	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:197751587G>T	ENST00000330198.4	+	14	1606	c.1584G>T	c.(1582-1584)caG>caT	p.Q528H	LMLN_ENST00000482695.1_Missense_Mutation_p.Q513H|LMLN_ENST00000332636.5_Missense_Mutation_p.Q476H|LMLN_ENST00000420910.2_Missense_Mutation_p.Q565H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	528					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTCTAATTCAGAAATCAGCAT	0.398																																																	0													150.0	142.0	144.0					3																	197751587		2203	4300	6503	SO:0001583	missense	0			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1584G>T	3.37:g.197751587G>T	ENSP00000328829:p.Gln528His		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.Q528H	ENST00000330198.4	37	c.1584	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	G	5.368	0.253141	0.10185	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.86	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	L	0.31752	0.955	0.51233	D	0.999914	B;B;D;B;B	0.53151	0.001;0.002;0.958;0.001;0.004	B;B;P;B;B	0.58454	0.007;0.013;0.839;0.012;0.004	T	0.14172	-1.0482	10	0.11182	T	0.66	-15.6754	11.2664	0.49112	0.0902:0.0:0.9098:0.0	.	528;476;565;557;513	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	H	513;528;565;476	ENSP00000418324:Q513H;ENSP00000328829:Q528H;ENSP00000410926:Q565H;ENSP00000328611:Q476H	ENSP00000328829:Q528H	Q	+	3	2	LMLN	199235984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.867000	0.69597	1.242000	0.43836	0.650000	0.86243	CAG	LMLN	-	pfam_Peptidase_M8	ENSG00000185621		0.398	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	-	0.00	72	0	G	NM_033029		197751587	+1	tier1	-	no_errors	ENST00000330198	ensembl	human	known	74_37	missense	5.41	69	4	SNP	1.000	T
PIEZO1	9780	genome.wustl.edu	37	16	88804229	88804229	+	Intron	SNP	A	A	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:88804229A>T	ENST00000301015.9	-	9	1267				RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TCCTCTGCAGAGACCAGCGTC	0.652																																																	0													77.0	79.0	79.0					16																	88804229		692	1591	2283	SO:0001627	intron_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.1021-7T>A	16.37:g.88804229A>T			A6NHT9|A7E2B7|Q0KKZ9	RNA	SNP	-	NULL	ENST00000301015.9	37	NULL	CCDS54058.1	16																																																																																			RP5-1142A6.2	-	-	ENSG00000224888		0.652	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	LOC100289580	Clone_based_vega_gene	protein_coding	OTTHUMT00000345699.4	-	0.00	60	0	A	NM_014745		88804229	+1	tier1	-	no_errors	ENST00000440406	ensembl	human	known	74_37	rna	15.25	50	9	SNP	0.006	T
GAPDHS	26330	genome.wustl.edu	37	19	36035690	36035690	+	Intron	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:36035690G>A	ENST00000222286.4	+	10	1172				AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392204.2_5'Flank|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590125.1_RNA|TMEM147_ENST00000222284.5_5'Flank|TMEM147_ENST00000392205.1_5'Flank	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACACAGTAGGGCTACATCA	0.532																																																	0																																										SO:0001627	intron_variant	0			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.1057-121G>A	19.37:g.36035690G>A			B2RC82|O60823|Q6JTT9|Q9HCU6	RNA	SNP	-	NULL	ENST00000222286.4	37	NULL	CCDS12465.1	19																																																																																			AD000090.2	-	-	ENSG00000236144		0.532	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506469	Clone_based_vega_gene	protein_coding	OTTHUMT00000460423.1	-	0.00	16	0	G	NM_014364		36035690	-1	tier1	-	no_errors	ENST00000588286	ensembl	human	known	74_37	rna	54.55	20	24	SNP	0.000	A
LOC101927542	101927542	genome.wustl.edu	37	1	83912311	83912311	+	lincRNA	SNP	A	A	C	rs368581628		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:83912311A>C	ENST00000446227.1	+	0	576																											CATTTAAACCATCAGACTGTG	0.393																																																	0																																												0																															1.37:g.83912311A>C				RNA	SNP	-	NULL	ENST00000446227.1	37	NULL		1																																																																																			RP11-413G15.1	-	-	ENSG00000231364		0.393	RP11-413G15.1-001	KNOWN	basic	lincRNA	LOC101927542	Clone_based_vega_gene	lincRNA	OTTHUMT00000026942.1		0.00	29	0	A			83912311	+1			no_errors	ENST00000446227	ensembl	human	known	74_37	rna	6.52	43	3	SNP	0.000	C
POTEG	404785	genome.wustl.edu	37	14	19563164	19563164	+	Intron	SNP	T	T	C	rs61971039		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:19563164T>C	ENST00000409832.3	+	5	969				CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAAGGACTTTAAATTAGTAG	0.353																																																	0																																										SO:0001627	intron_variant	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.918-240T>C	14.37:g.19563164T>C			A1L153|A6NMI9|Q6S5H6|Q6S8J2	RNA	SNP	-	NULL	ENST00000409832.3	37	NULL	CCDS32018.1	14																																																																																			CTD-2311B13.5	-	-	ENSG00000258252		0.353	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929948	Clone_based_vega_gene	protein_coding	OTTHUMT00000408579.1	-	0.00	13	0	T	NM_001005356		19563164	-1	tier1	rs199869952	no_errors	ENST00000548748	ensembl	human	known	74_37	rna	42.86	4	3	SNP	0.070	C
RP11-247A12.2	0	genome.wustl.edu	37	9	131971147	131971147	+	RNA	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:131971147G>T	ENST00000372490.3	+	0	367				RP11-247A12.2_ENST00000451229.1_RNA																							ttactctctaggagccggctc	0.607																																																	0																																												0																															9.37:g.131971147G>T				Splice_Site	SNP	-	NULL	ENST00000372490.3	37	c.NULL		9																																																																																			RP11-247A12.2	-	-	ENSG00000204055		0.607	RP11-247A12.2-001	KNOWN	basic	antisense	LOC101930611	Clone_based_vega_gene	antisense	OTTHUMT00000106416.1	-	0.00	67	0	G			131971147	+1	tier1	-	no_errors	ENST00000372490	ensembl	human	known	74_37	splice_site	7.55	49	4	SNP	0.000	T
CYP11A1	1583	genome.wustl.edu	37	15	74654407	74654407	+	Intron	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:74654407C>G	ENST00000268053.6	-	1	424				CTD-2311M21.2_ENST00000562009.1_RNA|CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000467407.1_Intron|CYP11A1_ENST00000419019.2_Intron|CYP11A1_ENST00000358632.4_Intron	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TGTGTTTTATCTTAACCACCA	0.502																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0																																										SO:0001627	intron_variant	0			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.269+5250G>C	15.37:g.74654407C>G			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	RNA	SNP	-	NULL	ENST00000268053.6	37	NULL	CCDS32291.1	15																																																																																			CTD-2311M21.2	-	-	ENSG00000260266		0.502	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729739	Clone_based_vega_gene	protein_coding	OTTHUMT00000319737.1	-	0.00	110	0	C			74654407	+1	tier1	-	no_errors	ENST00000562009	ensembl	human	known	74_37	rna	11.63	76	10	SNP	0.001	G
LRFN5	145581	genome.wustl.edu	37	14	42356105	42356105	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:42356105C>G	ENST00000298119.4	+	3	1466	c.277C>G	c.(277-279)Cat>Gat	p.H93D	LRFN5_ENST00000554171.1_Missense_Mutation_p.H93D|LRFN5_ENST00000554120.1_Missense_Mutation_p.H93D	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	93						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TATTACACCTCATGCTTTCGC	0.348										HNSCC(30;0.082)																																							0													56.0	56.0	56.0					14																	42356105		2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.277C>G	14.37:g.42356105C>G	ENSP00000298119:p.His93Asp		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H93D	ENST00000298119.4	37	c.277	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304282	0.23736	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.91068	-2.78;-2.78;-2.78	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.78451	0.4285	N	0.00554	-1.385	0.51767	D	0.999931	B;B	0.29571	0.11;0.249	B;B	0.38755	0.098;0.281	T	0.79586	-0.1742	10	0.37606	T	0.19	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	93;93	G3V364;Q96NI6	.;LRFN5_HUMAN	D	93	ENSP00000298119:H93D;ENSP00000451897:H93D;ENSP00000451067:H93D	ENSP00000298119:H93D	H	+	1	0	LRFN5	41425855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.312000	0.51927	2.595000	0.87683	0.650000	0.86243	CAT	LRFN5	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000165379		0.348	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0.00	58	0	C	NM_152447		42356105	+1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	G
LUZP2	338645	genome.wustl.edu	37	11	24518816	24518816	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:24518816G>A	ENST00000336930.6	+	1	93	c.27G>A	c.(25-27)ctG>ctA	p.L9L	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_De_novo_Start_OutOfFrame			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	9						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CGCACTACCTGCTGCCTCTCC	0.647																																																	0													29.0	29.0	29.0					11																	24518816		2202	4300	6502	SO:0001819	synonymous_variant	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.27G>A	11.37:g.24518816G>A			A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	NULL	p.L9	ENST00000336930.6	37	c.27	CCDS31446.1	11																																																																																			LUZP2	-	NULL	ENSG00000187398		0.647	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	-	0.00	41	0	G	NM_001009909		24518816	+1	tier1	-	no_errors	ENST00000336930	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	A
MAGI1	9223	genome.wustl.edu	37	3	65342522	65342522	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:65342522G>T	ENST00000402939.2	-	23	3919	c.3920C>A	c.(3919-3921)gCg>gAg	p.A1307E	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1336					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCGGCCTGCGCGTCCCTCCG	0.692																																																	0													48.0	50.0	49.0					3																	65342522		2202	4299	6501	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3920C>A	3.37:g.65342522G>T	ENSP00000385450:p.Ala1307Glu		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.A1307E	ENST00000402939.2	37	c.3920	CCDS33780.1	3	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.797621	0.00617	.	.	ENSG00000151276	ENST00000402939	T	0.11495	2.77	5.04	5.04	0.67666	.	0.509796	0.18895	N	0.128208	T	0.06781	0.0173	N	0.19112	0.55	0.24200	N	0.995519	B	0.26195	0.144	B	0.26094	0.066	T	0.30446	-0.9978	10	0.02654	T	1	-7.7945	13.1852	0.59677	0.0:0.2979:0.7021:0.0	.	1307	Q96QZ7-2	.	E	1307	ENSP00000385450:A1307E	ENSP00000385450:A1307E	A	-	2	0	MAGI1	65317562	0.843000	0.29541	0.020000	0.16555	0.032000	0.12392	3.892000	0.56235	2.329000	0.79093	0.655000	0.94253	GCG	MAGI1	-	NULL	ENSG00000151276		0.692	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349126.1	-	0.00	34	0	G	NM_004742		65342522	-1	tier1	-	no_errors	ENST00000402939	ensembl	human	known	74_37	missense	25.00	30	10	SNP	0.004	T
MAGT1	84061	genome.wustl.edu	37	X	77112967	77112967	+	Missense_Mutation	SNP	T	T	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:77112967T>A	ENST00000358075.6	-	4	600	c.514A>T	c.(514-516)Atc>Ttc	p.I172F		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	140	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GGAAAGTTGATGAAAGTTGGA	0.403																																																	0													121.0	111.0	114.0					X																	77112967		2203	4296	6499	SO:0001583	missense	0				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.514A>T	X.37:g.77112967T>A	ENSP00000354649:p.Ile172Phe		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.I172F	ENST00000358075.6	37	c.514	CCDS14436.2	X	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891364	0.33442	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	T	0.24538	1.85	4.85	4.85	0.62838	Thioredoxin-like fold (2);	0.195297	0.42420	U	0.000718	T	0.16471	0.0396	N	0.25890	0.77	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.04723	-1.0931	10	0.07482	T	0.82	-10.7346	13.297	0.60303	0.0:0.0:0.0:1.0	.	140	Q9H0U3	MAGT1_HUMAN	F	172;23	ENSP00000354649:I172F	ENSP00000354649:I172F	I	-	1	0	MAGT1	76999623	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.119000	0.50422	1.591000	0.50007	0.417000	0.27973	ATC	MAGT1	-	superfamily_Thioredoxin-like_fold	ENSG00000102158		0.403	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057301.2	-	0.00	106	0	T	NM_032121		77112967	-1	tier1	-	no_errors	ENST00000358075	ensembl	human	known	74_37	missense	32.26	63	30	SNP	1.000	A
MAGT1	84061	genome.wustl.edu	37	X	77112972	77112974	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	GTT	GTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:77112972_77112974delGTT	ENST00000358075.6	-	4	593_595	c.507_509delAAC	c.(505-510)ccaact>cct	p.T170del		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	138	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GTTGATGAAAGTTGGAGCTGAAT	0.399																																																	0																																										SO:0001651	inframe_deletion	0				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.507_509delAAC	X.37:g.77112972_77112974delGTT	ENSP00000354649:p.Thr170del		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	In_Frame_Del	DEL	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.T170in_frame_del	ENST00000358075.6	37	c.509_507	CCDS14436.2	X																																																																																			MAGT1	-	superfamily_Thioredoxin-like_fold	ENSG00000102158		0.399	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057301.2		0.00	103	0	GTT	NM_032121		77112974	-1	tier1		no_errors	ENST00000358075	ensembl	human	known	74_37	in_frame_del	29.59	69	29	DEL	1.000:1.000:0.907	-
MAP3K14-AS1	100133991	genome.wustl.edu	37	17	43344462	43344465	+	RNA	DEL	CTCA	CTCA	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	CTCA	CTCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:43344462_43344465delCTCA	ENST00000585780.1	+	0	1615				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA					MAP3K14 antisense RNA 1																		GACTCACCTTCTCACTGTCATCCG	0.569																																																	0																																												0			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43344462_43344465delCTCA				RNA	DEL	-	NULL	ENST00000585780.1	37	NULL		17																																																																																			MAP3K14	-	-	ENSG00000006062		0.569	MAP3K14-AS1-008	KNOWN	basic	antisense	MAP3K14	HGNC	antisense	OTTHUMT00000450941.1		0.00	66	0	CTCA	NR_024434		43344465	-1	tier1		no_errors	ENST00000344686	ensembl	human	known	74_37	rna	10.87	41	5	DEL	1.000:1.000:1.000:0.997	-
MAPK4	5596	genome.wustl.edu	37	18	48256223	48256223	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:48256223G>A	ENST00000400384.2	+	6	2799	c.1763G>A	c.(1762-1764)tGa>tAa	p.*588*	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.*377*	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	0					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GAAAGGTGGTGAGGGCGGAGG	0.682																																																	0													13.0	15.0	15.0					18																	48256223		1933	4110	6043	SO:0001819	synonymous_variant	0			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1763G>A	18.37:g.48256223G>A			A1A4C4|Q0VG04	Silent	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_MAPK_ERK3/4	p.*588	ENST00000400384.2	37	c.1763	CCDS42437.1	18																																																																																			MAPK4	-	NULL	ENSG00000141639		0.682	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2	-	0.00	29	0	G	NM_002747		48256223	+1	tier1	-	no_errors	ENST00000400384	ensembl	human	known	74_37	silent	25.00	18	6	SNP	1.000	A
MAPKAPK2	9261	genome.wustl.edu	37	1	206904645	206904646	+	Intron	DEL	GT	GT	-	rs184349902|rs368231892	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:206904645_206904646delGT	ENST00000367103.3	+	7	1085				MAPKAPK2_ENST00000479009.1_3'UTR|MAPKAPK2_ENST00000294981.4_Intron	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGAAGAGCCCgtgtgtgtgtgt	0.525																																																	0																																										SO:0001627	intron_variant	0			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.892+38GT>-	1.37:g.206904655_206904656delGT			Q5SY30|Q5SY41|Q8IYD6	RNA	DEL	-	NULL	ENST00000367103.3	37	NULL	CCDS31001.1	1																																																																																			MAPKAPK2	-	-	ENSG00000162889		0.525	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1		0.00	39	0	GT	NM_004759		206904646	+1	tier1		no_errors	ENST00000479009	ensembl	human	putative	74_37	rna	18.75	26	6	DEL	0.000:0.000	-
MDGA2	161357	genome.wustl.edu	37	14	47504275	47504275	+	Silent	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:47504275G>T	ENST00000399232.2	-	8	1915	c.1551C>A	c.(1549-1551)acC>acA	p.T517T	MDGA2_ENST00000439988.3_Silent_p.T586T|MDGA2_ENST00000426342.1_Silent_p.T288T|MDGA2_ENST00000357362.3_Silent_p.T288T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	517	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTATTGGCTGGTCTGACATC	0.418																																																	0													146.0	147.0	146.0					14																	47504275		1972	4163	6135	SO:0001819	synonymous_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1551C>A	14.37:g.47504275G>T			F6W3S7|J3KPX6	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.T586	ENST00000399232.2	37	c.1758		14																																																																																			MDGA2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000272781		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0.00	65	0	G	NM_182830		47504275	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	silent	16.48	76	15	SNP	0.999	T
MED1	5469	genome.wustl.edu	37	17	37604113	37604113	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:37604113G>T	ENST00000394287.3	-	2	275	c.70C>A	c.(70-72)Cat>Aat	p.H24N	MED1_ENST00000300651.6_Missense_Mutation_p.H24N			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AATTTTGCATGGAGCCGTTCC	0.398										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													155.0	140.0	145.0					17																	37604113		2203	4300	6503	SO:0001583	missense	0			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.70C>A	17.37:g.37604113G>T	ENSP00000377828:p.His24Asn		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.H24N	ENST00000394287.3	37	c.70		17	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647379	0.47258	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.34472	1.36	5.65	5.65	0.86999	.	.	.	.	.	T	0.49064	0.1535	N	0.24115	0.695	0.46149	D	0.998899	D;D	0.67145	0.981;0.996	D;D	0.76071	0.954;0.987	T	0.50457	-0.8826	9	0.59425	D	0.04	-8.6454	19.3898	0.94576	0.0:0.0:1.0:0.0	.	24;24	Q15648;Q15648-3	MED1_HUMAN;.	N	24	ENSP00000300651:H24N	ENSP00000300651:H24N	H	-	1	0	MED1	34857639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.885000	0.87282	2.679000	0.91253	0.558000	0.71614	CAT	MED1	-	NULL	ENSG00000125686		0.398	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1		0.00	58	0	G	NM_004774		37604113	-1			no_errors	ENST00000300651	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T
MED14	9282	genome.wustl.edu	37	X	40588606	40588606	+	Intron	DEL	A	A	-	rs200699843|rs369436436		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:40588606delA	ENST00000324817.1	-	2	334					NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTAAGAAGAAAAAAAAAAA	0.318																																																	0													62.0	57.0	59.0					X																	40588606		2202	4299	6501	SO:0001627	intron_variant	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.216-9T>-	X.37:g.40588606delA			Q4KMR7|Q9UNB3	RNA	DEL	-	NULL	ENST00000324817.1	37	NULL	CCDS14254.1	X																																																																																			MED14	-	-	ENSG00000180182		0.318	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1		0.00	24	0	A	NM_004229		40588606	-1	tier1		no_errors	ENST00000463072	ensembl	human	known	74_37	rna	13.04	20	3	DEL	0.000	-
MEGF8	1954	genome.wustl.edu	37	19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:42838298delG	ENST00000251268.6	+	3	491	c.491delG	c.(490-492)tggfs	p.W164fs	MEGF8_ENST00000334370.4_Frame_Shift_Del_p.W164fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	164	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGCCGGGCTGGGGGGGTCCT	0.701																																																	0													20.0	23.0	22.0					19																	42838298		1997	4139	6136	SO:0001589	frameshift_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.491delG	19.37:g.42838298delG	ENSP00000251268:p.Trp164fs		A8KAY0|O75097	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.G166fs	ENST00000251268.6	37	c.491		19																																																																																			MEGF8	-	smart_EG-like_dom	ENSG00000105429		0.701	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0.00	51	0	G	NM_001410		42838298	+1	tier1		no_errors	ENST00000251268	ensembl	human	known	74_37	frame_shift_del	8.70	42	4	DEL	1.000	-
MFAP3	4238	genome.wustl.edu	37	5	153432773	153432773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:153432773C>T	ENST00000436816.1	+	3	808	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	MFAP3_ENST00000322602.5_Nonsense_Mutation_p.Q197*|MFAP3_ENST00000439768.2_Nonsense_Mutation_p.Q51*	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	197					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		TGAGAAACTTCAGAAGGCCTT	0.463																																																	0													71.0	71.0	71.0					5																	153432773		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.589C>T	5.37:g.153432773C>T	ENSP00000409933:p.Gln197*		B2RDK0|B4DKA1|Q9NXA7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q197*	ENST00000436816.1	37	c.589	CCDS4324.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.210939	0.97380	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.2534	19.8034	0.96518	0.0:1.0:0.0:0.0	.	.	.	.	X	51;197;197	.	.	Q	+	1	0	MFAP3	153412966	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.600000	0.82769	2.760000	0.94817	0.655000	0.94253	CAG	MFAP3	-	NULL	ENSG00000037749		0.463	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2		0.00	55	0	C	NM_005927		153432773	+1			no_errors	ENST00000322602	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T
MGA	23269	genome.wustl.edu	37	15	42057139	42057139	+	Silent	SNP	G	G	A	rs372185993		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:42057139G>A	ENST00000570161.1	+	22	7800	c.7800G>A	c.(7798-7800)ccG>ccA	p.P2600P	MGA_ENST00000219905.7_Silent_p.P2600P|MGA_ENST00000389936.4_Silent_p.P2561P|MGA_ENST00000545763.1_Silent_p.P2391P|MGA_ENST00000566586.1_Silent_p.P2391P			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGATGACTCCGCAAGGGCAAT	0.448																																																	0								G	,	0,4040		0,0,2020	118.0	121.0	120.0		7173,7800	-6.1	0.9	15		120	1,8371		0,1,4185	no	coding-synonymous,coding-synonymous	MGA	NM_001080541.2,NM_001164273.1	,	0,1,6205	AA,AG,GG		0.0119,0.0,0.0081	,	2391/2857,2600/3066	42057139	1,12411	2020	4186	6206	SO:0001819	synonymous_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7800G>A	15.37:g.42057139G>A			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.P2600	ENST00000570161.1	37	c.7800	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0.00	61	0	G	NM_001164273.1		42057139	+1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	silent	35.44	51	28	SNP	0.609	A
MGAM	8972	genome.wustl.edu	37	7	141796214	141796214	+	Splice_Site	SNP	G	G	A	rs369519766		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:141796214G>A	ENST00000549489.2	+	42	5098	c.5003G>A	c.(5002-5004)cGt>cAt	p.R1668H	MGAM_ENST00000475668.2_Splice_Site_p.R2564H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1668	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCCTGGAGCGTGTGAGTATG	0.577																																																	0								G	HIS/ARG	0,3900		0,0,1950	88.0	83.0	84.0		5003	-0.1	0.0	7		84	1,8263		0,1,4131	no	missense-near-splice	MGAM	NM_004668.2	29	0,1,6081	AA,AG,GG		0.0121,0.0,0.0082	benign	1668/1858	141796214	1,12163	1950	4132	6082	SO:0001630	splice_region_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5004+1G>A	7.37:g.141796214G>A			Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.R1668H	ENST00000549489.2	37	c.5003	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	3.097	-0.185626	0.06340	0.0	1.21E-4	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.91407	-2.84	5.2	-0.0489	0.13837	.	.	.	.	.	T	0.79868	0.4520	N	0.25890	0.77	0.09310	N	1	B	0.24651	0.108	B	0.15870	0.014	T	0.66968	-0.5789	9	0.51188	T	0.08	.	1.3181	0.02111	0.1838:0.4013:0.1122:0.3027	.	1668	O43451	MGA_HUMAN	H	1668;2565	ENSP00000447378:R1668H	ENSP00000373973:R1668H	R	+	2	0	MGAM	141442683	0.000000	0.05858	0.016000	0.15963	0.000000	0.00434	-0.627000	0.05521	0.051000	0.15978	-2.888000	0.00096	CGT	MGAM	-	pfam_Glyco_hydro_31	ENSG00000257335		0.577	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0.00	94	0	G		Missense_Mutation	141796214	+1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	5.83	97	6	SNP	0.000	A
MLLT3	4300	genome.wustl.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	1	Substitution - coding silent(1)	large_intestine(1)											77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.S188	ENST00000380338.4	37	c.564	CCDS6494.1	9																																																																																			MLLT3	-	NULL	ENSG00000171843		0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1		0.00	53	0	G	NM_004529		20414280	-1			no_errors	ENST00000380338	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	A
MLXIP	22877	genome.wustl.edu	37	12	122618301	122618301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:122618301delC	ENST00000319080.7	+	9	1631	c.1499delC	c.(1498-1500)accfs	p.T500fs	MLXIP_ENST00000377037.2_Frame_Shift_Del_p.T90fs|MLXIP_ENST00000538698.1_Frame_Shift_Del_p.T107fs					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGCCACCACCTTTAGCCAG	0.637																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													39.0	48.0	45.0					12																	122618301		2177	4276	6453	SO:0001589	frameshift_variant	0			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1499delC	12.37:g.122618301delC	ENSP00000312834:p.Thr500fs			Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.F501fs	ENST00000319080.7	37	c.1499		12																																																																																			MLXIP	-	NULL	ENSG00000175727		0.637	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2		0.00	89	0	C	NM_014938		122618301	+1	tier1		no_errors	ENST00000319080	ensembl	human	known	74_37	frame_shift_del	12.26	93	13	DEL	1.000	-
MLXIPL	51085	genome.wustl.edu	37	7	73030405	73030405	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:73030405G>A	ENST00000313375.3	-	2	443	c.396C>T	c.(394-396)atC>atT	p.I132I	MLXIPL_ENST00000414749.2_Silent_p.I132I|MLXIPL_ENST00000434326.1_Silent_p.I132I|MLXIPL_ENST00000429400.2_Silent_p.I132I|MLXIPL_ENST00000354613.1_Silent_p.I132I|MLXIPL_ENST00000395189.1_Silent_p.I132I	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	132					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|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 cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACTCACACTGGATATACCAGG	0.587																																																	0													92.0	78.0	83.0					7																	73030405		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.396C>T	7.37:g.73030405G>A			C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.I132	ENST00000313375.3	37	c.396	CCDS5553.1	7																																																																																			MLXIPL	-	NULL	ENSG00000009950		0.587	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	-	0.00	82	0	G	NM_032951		73030405	-1	tier1	-	no_errors	ENST00000313375	ensembl	human	known	74_37	silent	17.39	57	12	SNP	0.998	A
MMP24	10893	genome.wustl.edu	37	20	33851658	33851658	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:33851658C>T	ENST00000246186.6	+	5	967	c.882C>T	c.(880-882)agC>agT	p.S294S	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	294					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	AGCACTCCAGCGACCCCAGCG	0.627																																																	0													30.0	31.0	31.0					20																	33851658		2202	4300	6502	SO:0001819	synonymous_variant	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.882C>T	20.37:g.33851658C>T			B7ZBG8|Q9H440	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.S294	ENST00000246186.6	37	c.882	CCDS46593.1	20																																																																																			MMP24	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A	ENSG00000125966		0.627	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	-	0.00	61	0	C	NM_006690		33851658	+1	tier1	-	no_errors	ENST00000246186	ensembl	human	known	74_37	silent	9.59	66	7	SNP	0.996	T
MNAT1	4331	genome.wustl.edu	37	14	61278748	61278748	+	Missense_Mutation	SNP	G	G	A	rs373266719		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:61278748G>A	ENST00000261245.4	+	5	565	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	MNAT1_ENST00000539616.2_Missense_Mutation_p.R155Q	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	155					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GAAGTGGAACGACAGGAAAAT	0.343								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																									0								G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	104.0	116.0	112.0		464,464	4.7	1.0	14		112	0,8598		0,0,4299	no	missense,missense	MNAT1	NM_001177963.1,NM_002431.3	43,43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	155/268,155/310	61278748	2,13002	2203	4299	6502	SO:0001583	missense	0			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.464G>A	14.37:g.61278748G>A	ENSP00000261245:p.Arg155Gln		G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3	p.R155Q	ENST00000261245.4	37	c.464	CCDS9750.1	14	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417143	0.42918	4.54E-4	0.0	ENSG00000020426	ENST00000261245;ENST00000539616;ENST00000554002;ENST00000557134	T;T;T	0.42513	1.03;1.0;0.97	5.62	4.73	0.59995	Cdk-activating kinase assembly factor MAT1, centre (1);Ubiquitin interacting motif (1);	0.179966	0.49916	D	0.000127	T	0.16896	0.0406	N	0.02802	-0.49	0.33349	D	0.570796	B;B	0.22080	0.014;0.064	B;B	0.15484	0.003;0.013	T	0.20472	-1.0274	10	0.08179	T	0.78	-0.5286	10.7938	0.46449	0.147:0.0:0.853:0.0	.	155;155	G3V1U8;P51948	.;MAT1_HUMAN	Q	155;155;50;15	ENSP00000261245:R155Q;ENSP00000446437:R155Q;ENSP00000451017:R15Q	ENSP00000261245:R155Q	R	+	2	0	MNAT1	60348501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.075000	0.64407	1.509000	0.48786	0.650000	0.86243	CGA	MNAT1	-	pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,pfscan_Ubiquitin-int_motif,tigrfam_MAT1/Tfb3	ENSG00000020426		0.343	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNAT1	HGNC	protein_coding	OTTHUMT00000276956.1	-	0.00	69	0	G	NM_002431		61278748	+1	tier1	-	no_errors	ENST00000261245	ensembl	human	known	74_37	missense	6.54	100	7	SNP	0.998	A
MOK	5891	genome.wustl.edu	37	14	102695441	102695441	+	3'UTR	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:102695441C>G	ENST00000361847.2	-	0	1676				MOK_ENST00000523231.1_3'UTR|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000193029.6_Intron|MOK_ENST00000517966.1_3'UTR|MOK_ENST00000522874.1_3'UTR|MOK_ENST00000524370.1_3'UTR|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000561150.1_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase						protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TAGCCCAGAACATCCTAGGCA	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.*185G>C	14.37:g.102695441C>G			B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	RNA	SNP	-	NULL	ENST00000361847.2	37	NULL	CCDS9971.1	14																																																																																			MOK	-	-	ENSG00000080823		0.557	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	HGNC	protein_coding	OTTHUMT00000380848.3	-	0.00	154	0	C			102695441	-1	tier1	-	no_errors	ENST00000520266	ensembl	human	putative	74_37	rna	8.89	164	16	SNP	0.005	G
MOSPD2	158747	genome.wustl.edu	37	X	14929398	14929398	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:14929398G>T	ENST00000380492.3	+	9	830	c.742G>T	c.(742-744)Gac>Tac	p.D248Y	MOSPD2_ENST00000482354.1_Missense_Mutation_p.D248Y|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	248						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGTAGATGATGACTTCCAGAC	0.393																																																	0													167.0	158.0	161.0					X																	14929398		2203	4300	6503	SO:0001583	missense	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.742G>T	X.37:g.14929398G>T	ENSP00000369860:p.Asp248Tyr		Q8N3H2|Q8NA83	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.D248Y	ENST00000380492.3	37	c.742	CCDS14162.1	X	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203793	0.79127	.	.	ENSG00000130150	ENST00000380492	T	0.60672	0.17	5.0	5.0	0.66597	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80155	-0.1500	10	0.87932	D	0	.	17.3167	0.87226	0.0:0.0:1.0:0.0	.	248	Q8NHP6	MSPD2_HUMAN	Y	248	ENSP00000369860:D248Y	ENSP00000369860:D248Y	D	+	1	0	MOSPD2	14839319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.802000	0.91910	2.201000	0.70794	0.594000	0.82650	GAC	MOSPD2	-	superfamily_CRAL-TRIO_dom	ENSG00000130150		0.393	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	-	0.00	68	0	G	NM_152581		14929398	+1	tier1	-	no_errors	ENST00000380492	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
MRE11A	4361	genome.wustl.edu	37	11	94153333	94153335	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	ATC	ATC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:94153333_94153335delATC	ENST00000323929.3	-	20	2305_2307	c.2083_2085delGAT	c.(2083-2085)gatdel	p.D695del	MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del|MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del|MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del	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	29	0	ATC	NM_005591		94153335	-1	tier1		no_errors	ENST00000323929	ensembl	human	known	74_37	in_frame_del	5.41	35	2	DEL	0.990:1.000:1.000	-
MTIF2	4528	genome.wustl.edu	37	2	55489519	55489519	+	Silent	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:55489519T>C	ENST00000263629.4	-	5	579	c.264A>G	c.(262-264)aaA>aaG	p.K88K	MTIF2_ENST00000394600.3_Silent_p.K88K|MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Silent_p.K88K	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	88					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CTACCACCTTTTTAGATTTTG	0.328																																																	0													210.0	217.0	215.0					2																	55489519		2203	4300	6503	SO:0001819	synonymous_variant	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.264A>G	2.37:g.55489519T>C			D6W5D0	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.K88	ENST00000263629.4	37	c.264	CCDS1853.1	2																																																																																			MTIF2	-	NULL	ENSG00000085760		0.328	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0.00	70	0	T	NM_002453		55489519	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	silent	12.37	85	12	SNP	0.999	C
MTR	4548	genome.wustl.edu	37	1	237052504	237052504	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:237052504C>G	ENST00000366577.5	+	28	3269	c.2875C>G	c.(2875-2877)Cag>Gag	p.Q959E	MTR_ENST00000535889.1_Missense_Mutation_p.Q908E	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	959	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TATTGGGACCCAGGTCTTTGA	0.547																																																	0													118.0	108.0	111.0					1																	237052504		2203	4300	6503	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2875C>G	1.37:g.237052504C>G	ENSP00000355536:p.Gln959Glu		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.Q959E	ENST00000366577.5	37	c.2875	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908520	0.33721	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.75821	-0.97;-0.97;-0.97	5.3	4.38	0.52667	Vitamin B12-dependent methionine synthase, activation domain (2);	0.778678	0.12262	N	0.484619	T	0.66877	0.2834	L	0.46819	1.47	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.57797	-0.7749	10	0.48119	T	0.1	-1.4588	8.7617	0.34678	0.3633:0.5096:0.127:0.0	.	959;908;959	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	E	813;959;908;513	ENSP00000355536:Q959E;ENSP00000441845:Q908E;ENSP00000355535:Q513E	ENSP00000355535:Q513E	Q	+	1	0	MTR	235119127	0.765000	0.28485	0.806000	0.32338	0.961000	0.63080	2.622000	0.46427	1.467000	0.48044	0.655000	0.94253	CAG	MTR	-	superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH	ENSG00000116984		0.547	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0.00	151	0	C	NM_000254		237052504	+1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	18.29	134	30	SNP	0.155	G
MYH6	4624	genome.wustl.edu	37	14	23876283	23876283	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:23876283C>G	ENST00000356287.3	-	2	179	c.150G>C	c.(148-150)aaG>aaC	p.K50N	MYH6_ENST00000405093.3_Missense_Mutation_p.K50N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	50					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGGACAAAATCTTGGCTTTGA	0.567																																																	0													227.0	229.0	228.0					14																	23876283		2203	4300	6503	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.150G>C	14.37:g.23876283C>G	ENSP00000348634:p.Lys50Asn		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K50N	ENST00000356287.3	37	c.150	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	5.910	0.351934	0.11182	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80994	-1.44;-1.44	3.53	2.64	0.31445	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.73969	0.3655	L	0.54323	1.7	0.26704	N	0.971112	B;B	0.26318	0.146;0.146	B;B	0.32289	0.143;0.143	T	0.66767	-0.5840	9	0.59425	D	0.04	.	2.7968	0.05403	0.2046:0.4805:0.0:0.315	.	50;50	D9YZU2;P13533	.;MYH6_HUMAN	N	50	ENSP00000386041:K50N;ENSP00000348634:K50N	ENSP00000348634:K50N	K	-	3	2	MYH6	22946123	0.721000	0.28007	0.976000	0.42696	0.161000	0.22273	0.175000	0.16762	0.826000	0.34661	0.455000	0.32223	AAG	MYH6	-	pfam_Myosin_N	ENSG00000197616		0.567	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0.00	62	0	C			23876283	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	16.88	64	13	SNP	0.989	G
MYH7B	57644	genome.wustl.edu	37	20	33581979	33581979	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:33581979C>G	ENST00000262873.7	+	25	2693	c.2601C>G	c.(2599-2601)atC>atG	p.I867M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	825						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGTGGAACATCCGTGCCTTCA	0.592																																																	0													110.0	118.0	115.0					20																	33581979		2136	4256	6392	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2601C>G	20.37:g.33581979C>G	ENSP00000262873:p.Ile867Met		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I867M	ENST00000262873.7	37	c.2601	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528310	0.64860	.	.	ENSG00000078814	ENST00000262873	T	0.72835	-0.69	4.33	3.38	0.38709	.	0.000000	0.38663	N	0.001616	T	0.72581	0.3478	M	0.90369	3.11	0.39512	D	0.968379	P	0.50272	0.933	B	0.39876	0.312	T	0.81256	-0.1015	10	0.87932	D	0	.	10.6545	0.45667	0.0:0.8475:0.0:0.1525	.	825	A7E2Y1	MYH7B_HUMAN	M	867	ENSP00000262873:I867M	ENSP00000262873:I867M	I	+	3	3	MYH7B	33045640	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.883000	0.28200	2.399000	0.81585	0.561000	0.74099	ATC	MYH7B	-	superfamily_P-loop_NTPase	ENSG00000078814		0.592	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0.00	46	0	C	NM_020884		33581979	+1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	6.90	54	4	SNP	1.000	G
MYO1A	4640	genome.wustl.edu	37	12	57423252	57423252	+	Silent	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:57423252G>C	ENST00000442789.2	-	27	3131	c.2844C>G	c.(2842-2844)ctC>ctG	p.L948L	MYO1A_ENST00000544473.1_Silent_p.L786L|MYO1A_ENST00000300119.3_Silent_p.L948L|TAC3_ENST00000415231.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	948	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCCCATCCTTGAGGCTGGTGA	0.557																																																	0													119.0	113.0	115.0					12																	57423252		2203	4300	6503	SO:0001819	synonymous_variant	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2844C>G	12.37:g.57423252G>C			Q9UQD7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.L948	ENST00000442789.2	37	c.2844	CCDS8929.1	12																																																																																			MYO1A	-	pfam_Myosin_tail_2	ENSG00000166866		0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	-	0.00	71	0	G	NM_005379		57423252	-1	tier1	-	no_errors	ENST00000300119	ensembl	human	known	74_37	silent	22.81	44	13	SNP	0.318	C
MYO3A	53904	genome.wustl.edu	37	10	26482174	26482174	+	Silent	SNP	A	A	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:26482174A>C	ENST00000265944.5	+	32	4645	c.4479A>C	c.(4477-4479)ccA>ccC	p.P1493P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1493					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAGACCCCCAAGACGACCCC	0.378																																																	0													77.0	75.0	75.0					10																	26482174		2203	4300	6503	SO:0001819	synonymous_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4479A>C	10.37:g.26482174A>C			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.P1493	ENST00000265944.5	37	c.4479	CCDS7148.1	10																																																																																			MYO3A	-	NULL	ENSG00000095777		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	-	0.00	144	0	A	NM_017433		26482174	+1	tier1	-	no_errors	ENST00000265944	ensembl	human	known	74_37	silent	5.93	127	8	SNP	1.000	C
NAT9	26151	genome.wustl.edu	37	17	72769777	72769777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:72769777G>T	ENST00000357814.3	-	3	201	c.128C>A	c.(127-129)tCg>tAg	p.S43*	NAT9_ENST00000582870.1_Nonsense_Mutation_p.S47*|NAT9_ENST00000581136.1_Nonsense_Mutation_p.S43*|NAT9_ENST00000580632.1_Nonsense_Mutation_p.S42*|NAT9_ENST00000580301.1_Nonsense_Mutation_p.S42*|TMEM104_ENST00000335464.5_5'Flank|TMEM104_ENST00000582773.1_5'Flank|NAT9_ENST00000578822.1_Nonsense_Mutation_p.S48*|TMEM104_ENST00000582330.1_5'Flank|NAT9_ENST00000582524.1_Nonsense_Mutation_p.S43*|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000583476.1_Nonsense_Mutation_p.S43*|TMEM104_ENST00000417024.2_5'Flank|NAT9_ENST00000583757.1_Nonsense_Mutation_p.S42*	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	43	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						CAGCGGCTCCGAGGCTGTCAA	0.587																																																	0													110.0	101.0	104.0					17																	72769777		2203	4300	6503	SO:0001587	stop_gained	0			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.128C>A	17.37:g.72769777G>T	ENSP00000350467:p.Ser43*		B2R7F0|Q9BTD0|Q9Y3T3	Nonsense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.S43*	ENST00000357814.3	37	c.128	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.282043	0.95489	.	.	ENSG00000109065	ENST00000357814	.	.	.	4.87	4.87	0.63330	.	0.072630	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0843	18.3781	0.90441	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000350467:S43X	S	-	2	0	NAT9	70281372	1.000000	0.71417	0.941000	0.38009	0.941000	0.58515	9.772000	0.98984	2.406000	0.81754	0.313000	0.20887	TCG	NAT9	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000109065		0.587	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	-	0.00	67	0	G	NM_015654		72769777	-1	tier1	-	no_errors	ENST00000357814	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	35734011	35734011	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr13:35734011G>T	ENST00000400445.3	+	22	4237	c.3703G>T	c.(3703-3705)Gct>Tct	p.A1235S	NBEA_ENST00000540320.1_Missense_Mutation_p.A1235S|NBEA_ENST00000379939.2_Missense_Mutation_p.A1235S|NBEA_ENST00000310336.4_Missense_Mutation_p.A1235S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1235					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCTGGAGTATGCTGAAATGAC	0.358																																																	0													51.0	54.0	53.0					13																	35734011		1891	4109	6000	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3703G>T	13.37:g.35734011G>T	ENSP00000383295:p.Ala1235Ser		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.A1235S	ENST00000400445.3	37	c.3703	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	4.574	0.106549	0.08780	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.91	4.09	0.47781	.	0.332587	0.32055	N	0.006644	T	0.22551	0.0544	N	0.14661	0.345	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.08617	-1.0713	10	0.09590	T	0.72	.	3.6336	0.08141	0.1428:0.1339:0.5848:0.1385	.	1235	Q5T321	.	S	1235	ENSP00000440951:A1235S;ENSP00000383295:A1235S;ENSP00000369271:A1235S;ENSP00000308534:A1235S	ENSP00000308534:A1235S	A	+	1	0	NBEA	34632011	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.499000	0.35671	1.510000	0.48803	0.650000	0.86243	GCT	NBEA	-	NULL	ENSG00000172915		0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0.00	72	0	G	NM_015678		35734011	+1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.990	T
NCOR2	9612	genome.wustl.edu	37	12	124887058	124887058	+	Missense_Mutation	SNP	G	G	T	rs372331070|rs35831183|rs559681337	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:124887058G>T	ENST00000405201.1	-	14	1532	c.1532C>A	c.(1531-1533)cCc>cAc	p.P511H	NCOR2_ENST00000404621.1_Missense_Mutation_p.P510H|NCOR2_ENST00000429285.2_Missense_Mutation_p.P510H|NCOR2_ENST00000356219.3_Missense_Mutation_p.P511H|NCOR2_ENST00000404121.2_Missense_Mutation_p.P81H|NCOR2_ENST00000397355.1_Missense_Mutation_p.P511H			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	511					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGGGCATGGgctgctgctg	0.617																																																	0													21.0	24.0	23.0					12																	124887058		2086	4209	6295	SO:0001583	missense	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1532C>A	12.37:g.124887058G>T	ENSP00000384018:p.Pro511His		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P511H	ENST00000405201.1	37	c.1532	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	8.042	0.764060	0.15914	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;1.59;3.46;1.59;0.74	4.08	1.58	0.23477	.	2.609730	0.01459	N	0.015802	T	0.51753	0.1693	N	0.22421	0.69	0.22468	N	0.999074	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43782	-0.9370	10	0.62326	D	0.03	0.0821	8.9039	0.35512	0.0:0.0:0.3934:0.6066	.	510;511;511	C9J0Q5;C9J239;C9JFD3	.;.;.	H	511;510;511;511;511;81;510;511	ENSP00000384018:P511H;ENSP00000384202:P510H;ENSP00000348551:P511H;ENSP00000380513:P511H;ENSP00000385618:P81H;ENSP00000400281:P510H;ENSP00000402808:P511H	ENSP00000348551:P511H	P	-	2	0	NCOR2	123453011	0.967000	0.33354	0.992000	0.48379	0.762000	0.43233	1.778000	0.38614	0.098000	0.17522	0.313000	0.20887	CCC	NCOR2	-	NULL	ENSG00000196498		0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2		0.00	38	0	G	NM_006312		124887058	-1			no_errors	ENST00000356219	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.999	T
NEK11	79858	genome.wustl.edu	37	3	130889714	130889714	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:130889714C>G	ENST00000510769.1	+	10	1320	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	NEK11_ENST00000356918.4_Missense_Mutation_p.S461C|NEK11_ENST00000429253.2_Missense_Mutation_p.S461C|NEK11_ENST00000508196.1_Missense_Mutation_p.S461C|NEK11_ENST00000383366.4_Missense_Mutation_p.S461C|NEK11_ENST00000507910.1_Missense_Mutation_p.S461C|NEK11_ENST00000510688.1_Missense_Mutation_p.S461C|NEK11_ENST00000511262.1_Missense_Mutation_p.S461C|NEK11_ENST00000412440.2_Missense_Mutation_p.S277C					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						GATGCCACATCTGACCTTGGA	0.478																																																	0													188.0	165.0	173.0					3																	130889714		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.1067C>G	3.37:g.130889714C>G	ENSP00000421549:p.Ser356Cys			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.S461C	ENST00000510769.1	37	c.1382		3	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426186	0.25726	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.72394	-0.59;-0.41;-0.58;-0.38;-0.55;-0.41;-0.65;-0.58;-0.41	5.16	0.2	0.15181	.	1.549150	0.04004	N	0.297056	T	0.58750	0.2144	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.33448	0.412;0.412;0.0;0.001;0.0;0.216	B;B;B;B;B;B	0.38194	0.267;0.267;0.001;0.003;0.001;0.181	T	0.52756	-0.8533	10	0.66056	D	0.02	.	3.4719	0.07570	0.1747:0.4539:0.0:0.3714	.	461;356;277;461;461;461	Q8NG66-3;E9PHI8;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;NEK11_HUMAN;.	C	356;461;461;461;461;461;277;461;461	ENSP00000421549:S356C;ENSP00000397180:S461C;ENSP00000349389:S461C;ENSP00000423458:S461C;ENSP00000425114:S461C;ENSP00000372857:S461C;ENSP00000411888:S277C;ENSP00000426662:S461C;ENSP00000421851:S461C	ENSP00000349389:S461C	S	+	2	0	NEK11	132372404	0.305000	0.24481	0.006000	0.13384	0.173000	0.22820	0.651000	0.24873	0.102000	0.17638	0.561000	0.74099	TCT	NEK11	-	NULL	ENSG00000114670		0.478	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1	-	0.00	117	0	C	NM_024800		130889714	+1	tier1	-	no_errors	ENST00000383366	ensembl	human	known	74_37	missense	10.28	95	11	SNP	0.002	G
NELL2	4753	genome.wustl.edu	37	12	44913936	44913936	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:44913936C>T	ENST00000429094.2	-	19	2756	c.2252G>A	c.(2251-2253)tGc>tAc	p.C751Y	NELL2_ENST00000437801.2_Missense_Mutation_p.C801Y|NELL2_ENST00000333837.4_Missense_Mutation_p.C774Y|NELL2_ENST00000395487.2_Missense_Mutation_p.C750Y|NELL2_ENST00000551601.1_Missense_Mutation_p.C703Y|NELL2_ENST00000549027.1_Missense_Mutation_p.C750Y|NELL2_ENST00000452445.2_Missense_Mutation_p.C751Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	751	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCGCGGGCAGCACTCATTCTC	0.542																																																	0													91.0	75.0	81.0					12																	44913936		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2252G>A	12.37:g.44913936C>T	ENSP00000390680:p.Cys751Tyr		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.C801Y	ENST00000429094.2	37	c.2402	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507851	0.85282	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.07	5.07	0.68467	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97611	0.9217	H	0.97587	4.035	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;1.0;0.998;0.999;1.0	D	0.97945	1.0328	10	0.38643	T	0.18	-10.0971	18.4463	0.90685	0.0:1.0:0.0:0.0	.	774;801;703;751;750	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	Y	750;751;703;751;750;774;801	ENSP00000378866:C750Y;ENSP00000390680:C751Y;ENSP00000449332:C703Y;ENSP00000394612:C751Y;ENSP00000447927:C750Y;ENSP00000327988:C774Y;ENSP00000416341:C801Y	ENSP00000327988:C774Y	C	-	2	0	NELL2	43200203	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.814000	0.86154	2.325000	0.78763	0.650000	0.86243	TGC	NELL2	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000184613		0.542	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0.00	76	0	C	NM_006159		44913936	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
NEXN	91624	genome.wustl.edu	37	1	78408248	78408248	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:78408248C>A	ENST00000334785.7	+	13	1946	c.1762C>A	c.(1762-1764)Ctt>Att	p.L588I	NEXN_ENST00000330010.8_Missense_Mutation_p.L524I|NEXN_ENST00000457030.1_Missense_Mutation_p.L574I|NEXN_ENST00000480732.2_3'UTR|FUBP1_ENST00000489495.1_5'Flank	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CAAGAAGCCTCTTAAAAACAC	0.438																																																	0													101.0	98.0	99.0					1																	78408248		1899	4107	6006	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1762C>A	1.37:g.78408248C>A	ENSP00000333938:p.Leu588Ile			Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.L588I	ENST00000334785.7	37	c.1762	CCDS41351.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887393	0.52014	.	.	ENSG00000162614	ENST00000457030;ENST00000330010;ENST00000334785	T;T;T	0.48836	0.8;0.8;0.8	5.84	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41938	D	0.000795	T	0.52468	0.1736	L	0.58969	1.84	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.995;0.999	T	0.53535	-0.8425	10	0.41790	T	0.15	-10.0605	13.2456	0.60022	0.0:0.8683:0.0:0.1317	.	574;588;524	Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;NEXN_HUMAN;.	I	574;524;588	ENSP00000388048:L574I;ENSP00000327363:L524I;ENSP00000333938:L588I	ENSP00000327363:L524I	L	+	1	0	NEXN	78180836	0.995000	0.38212	0.838000	0.33150	0.090000	0.18270	2.721000	0.47260	0.766000	0.33244	0.591000	0.81541	CTT	NEXN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000162614		0.438	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	-	0.00	79	0	C	NM_144573		78408248	+1	tier1	-	no_errors	ENST00000334785	ensembl	human	known	74_37	missense	9.57	104	11	SNP	0.985	A
NHSL1	57224	genome.wustl.edu	37	6	138751558	138751558	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:138751558C>T	ENST00000427025.2	-	5	4564	c.3936G>A	c.(3934-3936)gaG>gaA	p.E1312E	NHSL1_ENST00000343505.5_Silent_p.E1308E	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	1312										breast(2)|endometrium(4)|kidney(1)	7						ATAGGCAGCTCTCCCCATCGC	0.592																																																	0													12.0	15.0	14.0					6																	138751558		689	1589	2278	SO:0001819	synonymous_variant	0			AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.3936G>A	6.37:g.138751558C>T			Q3ZCS5|Q5SYE8|Q9P2J0	Silent	SNP	NULL	p.E1312	ENST00000427025.2	37	c.3936	CCDS55063.1	6																																																																																			NHSL1	-	NULL	ENSG00000135540		0.592	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NHSL1	HGNC	protein_coding	OTTHUMT00000043700.2	-	0.00	78	0	C	XM_050421		138751558	-1	tier1	-	no_errors	ENST00000427025	ensembl	human	known	74_37	silent	17.39	57	12	SNP	0.030	T
NHSL1	57224	genome.wustl.edu	37	6	138751653	138751653	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:138751653C>T	ENST00000427025.2	-	5	4469	c.3841G>A	c.(3841-3843)Gaa>Aaa	p.E1281K	NHSL1_ENST00000343505.5_Missense_Mutation_p.E1277K	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	1281										breast(2)|endometrium(4)|kidney(1)	7						ACATTGGCTTCCACTCTGCTG	0.607																																																	0													46.0	48.0	47.0					6																	138751653		692	1591	2283	SO:0001583	missense	0			AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.3841G>A	6.37:g.138751653C>T	ENSP00000394546:p.Glu1281Lys		Q3ZCS5|Q5SYE8|Q9P2J0	Missense_Mutation	SNP	NULL	p.E1281K	ENST00000427025.2	37	c.3841	CCDS55063.1	6	.	.	.	.	.	.	.	.	.	.	C	9.187	1.025067	0.19433	.	.	ENSG00000135540	ENST00000427025;ENST00000343505	T;T	0.39229	1.09;1.57	4.67	2.87	0.33458	.	0.825817	0.10913	N	0.620301	T	0.10852	0.0265	N	0.13043	0.29	0.32162	N	0.582873	B;B	0.25169	0.119;0.119	B;B	0.32090	0.14;0.14	T	0.31998	-0.9923	10	0.15499	T	0.54	-2.3094	9.4716	0.38847	0.0:0.8313:0.0:0.1687	.	1277;1281	E2QRJ1;Q5SYE7	.;NHSL1_HUMAN	K	1281;1277	ENSP00000394546:E1281K;ENSP00000344672:E1277K	ENSP00000344672:E1277K	E	-	1	0	NHSL1	138793346	0.845000	0.29573	0.972000	0.41901	0.677000	0.39632	2.426000	0.44731	0.386000	0.24997	0.561000	0.74099	GAA	NHSL1	-	NULL	ENSG00000135540		0.607	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NHSL1	HGNC	protein_coding	OTTHUMT00000043700.2	-	0.00	43	0	C	XM_050421		138751653	-1	tier1	-	no_errors	ENST00000427025	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.996	T
NHSL1	57224	genome.wustl.edu	37	6	138754450	138754450	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:138754450G>A	ENST00000427025.2	-	5	1672	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	NHSL1_ENST00000343505.5_Silent_p.L344L|MIR3145_ENST00000580727.1_RNA	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	348										breast(2)|endometrium(4)|kidney(1)	7						CTGCAGGGCCGAGGGCACCCA	0.552																																																	0													70.0	67.0	68.0					6																	138754450		692	1591	2283	SO:0001819	synonymous_variant	0			AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.1044C>T	6.37:g.138754450G>A			Q3ZCS5|Q5SYE8|Q9P2J0	Silent	SNP	NULL	p.L348	ENST00000427025.2	37	c.1044	CCDS55063.1	6																																																																																			NHSL1	-	NULL	ENSG00000135540		0.552	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NHSL1	HGNC	protein_coding	OTTHUMT00000043700.2	-	0.00	59	0	G	XM_050421		138754450	-1	tier1	-	no_errors	ENST00000427025	ensembl	human	known	74_37	silent	22.50	31	9	SNP	0.001	A
NLN	57486	genome.wustl.edu	37	5	65088483	65088483	+	Splice_Site	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:65088483G>A	ENST00000380985.5	+	9	1705		c.e9+1		NLN_ENST00000502464.1_Splice_Site	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)							mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TTGTGCACAGGTGAGTTTTTT	0.453																																																	0													93.0	89.0	90.0					5																	65088483		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1527+1G>A	5.37:g.65088483G>A			Q9ULJ4	Splice_Site	SNP	-	e9+1	ENST00000380985.5	37	c.1527+1	CCDS3989.1	5	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574213	0.86542	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000509935	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLN	65124239	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.420000	0.97426	2.778000	0.95560	0.655000	0.94253	.	NLN	-	-	ENSG00000123213		0.453	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1		0.00	73	0	G		Intron	65088483	+1			no_errors	ENST00000380985	ensembl	human	known	74_37	splice_site	8.00	46	4	SNP	1.000	A
NOP2	4839	genome.wustl.edu	37	12	6669279	6669279	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:6669279G>A	ENST00000322166.5	-	15	1895	c.1774C>T	c.(1774-1776)Cct>Tct	p.P592S	NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Missense_Mutation_p.P625S|NOP2_ENST00000541778.1_Missense_Mutation_p.P588S|NOP2_ENST00000399466.2_Missense_Mutation_p.P588S|NOP2_ENST00000545200.1_Missense_Mutation_p.P588S|NOP2_ENST00000537442.1_Missense_Mutation_p.P592S	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	592					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TGGGACTGAGGGATAGAATTG	0.468																																																	0													81.0	82.0	82.0					12																	6669279		1876	4123	5999	SO:0001583	missense	0				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1774C>T	12.37:g.6669279G>A	ENSP00000313272:p.Pro592Ser		A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.P592S	ENST00000322166.5	37	c.1774	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834883	0.50951	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.18174	2.23;2.33;2.31;2.24;2.23;2.24	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	L	0.32530	0.975	0.80722	D	1	D;B;B	0.63046	0.992;0.249;0.364	P;B;B	0.60117	0.869;0.183;0.34	T	0.01541	-1.1329	10	0.52906	T	0.07	-24.6826	18.3836	0.90459	0.0:0.0:1.0:0.0	.	588;592;588	Q05BA7;P46087;P46087-2	.;NOP2_HUMAN;.	S	592;625;588;588;592;588	ENSP00000444437:P592S;ENSP00000371858:P625S;ENSP00000439422:P588S;ENSP00000382392:P588S;ENSP00000313272:P592S;ENSP00000443150:P588S	ENSP00000313272:P592S	P	-	1	0	NOP2	6539540	1.000000	0.71417	0.759000	0.31340	0.123000	0.20343	9.397000	0.97276	2.569000	0.86673	0.655000	0.94253	CCT	NOP2	-	NULL	ENSG00000111641		0.468	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	-	0.00	114	0	G	NM_006170		6669279	-1	tier1	-	no_errors	ENST00000322166	ensembl	human	known	74_37	missense	7.63	108	9	SNP	1.000	A
NOC4L	79050	genome.wustl.edu	37	12	132636906	132636906	+	Missense_Mutation	SNP	G	G	T	rs564484388		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:132636906G>T	ENST00000330579.1	+	15	1552	c.1511G>T	c.(1510-1512)cGg>cTg	p.R504L	NOC4L_ENST00000538784.1_Missense_Mutation_p.R119L	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	504					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CTGCTGGGACGGCCGGGTGAA	0.587																																																	0													23.0	23.0	23.0					12																	132636906		2171	4274	6445	SO:0001583	missense	0				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1511G>T	12.37:g.132636906G>T	ENSP00000328854:p.Arg504Leu		Q8N2S5|Q96I14	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.R504L	ENST00000330579.1	37	c.1511	CCDS9277.1	12	.	.	.	.	.	.	.	.	.	.	G	4.811	0.150726	0.09185	.	.	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.32023	1.47;1.47	4.61	-1.06	0.10002	.	0.600127	0.16133	N	0.228103	T	0.12774	0.0310	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14144	-1.0483	10	0.28530	T	0.3	-25.3426	1.3224	0.02118	0.1723:0.1349:0.2817:0.4111	.	504	Q9BVI4	NOC4L_HUMAN	L	504;119	ENSP00000328854:R504L;ENSP00000443336:R119L	ENSP00000328854:R504L	R	+	2	0	NOC4L	131202859	0.000000	0.05858	0.122000	0.21767	0.007000	0.05969	0.404000	0.20999	0.034000	0.15491	-0.332000	0.08345	CGG	NOC4L	-	NULL	ENSG00000184967		0.587	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1	-	0.00	163	0	G	NM_024078		132636906	+1	tier1	-	no_errors	ENST00000330579	ensembl	human	known	74_37	missense	9.02	120	12	SNP	0.004	T
NOTCH3	4854	genome.wustl.edu	37	19	15288489	15288489	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:15288489C>G	ENST00000263388.2	-	24	4325	c.4250G>C	c.(4249-4251)tGc>tCc	p.C1417S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1417					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCTCAGCGAGCAGTCGCCGCC	0.761																																																	0													2.0	3.0	3.0					19																	15288489		1581	3325	4906	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4250G>C	19.37:g.15288489C>G	ENSP00000263388:p.Cys1417Ser		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.C1417S	ENST00000263388.2	37	c.4250	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903774	0.92035	.	.	ENSG00000074181	ENST00000263388	D	0.99888	-7.54	4.66	4.66	0.58398	Notch domain (5);	.	.	.	.	D	0.99878	0.9942	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95977	0.8974	9	0.87932	D	0	.	16.3064	0.82849	0.0:1.0:0.0:0.0	.	1417	Q9UM47	NOTC3_HUMAN	S	1417	ENSP00000263388:C1417S	ENSP00000263388:C1417S	C	-	2	0	NOTCH3	15149489	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.579000	0.82511	2.129000	0.65627	0.313000	0.20887	TGC	NOTCH3	-	pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,prints_Notch_dom,pfscan_Notch_dom	ENSG00000074181		0.761	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1		0.00	30	0	C	NM_000435		15288489	-1			no_errors	ENST00000263388	ensembl	human	known	74_37	missense	14.29	17	3	SNP	1.000	G
NRCAM	4897	genome.wustl.edu	37	7	107789577	107789577	+	3'UTR	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:107789577G>A	ENST00000379028.3	-	0	5163				NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000379024.4_3'UTR|NRCAM_ENST00000413765.2_3'UTR|NRCAM_ENST00000351718.4_3'UTR			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TAATTTGGATGATTTGTTTTT	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000379028.3:c.*778C>T	7.37:g.107789577G>A			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	RNA	SNP	-	NULL	ENST00000379028.3	37	NULL	CCDS47686.1	7																																																																																			NRCAM	-	-	ENSG00000091129		0.343	NRCAM-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding		-	0.00	64	0	G	NM_001037132		107789577	-1	tier1	-	no_errors	ENST00000522550	ensembl	human	known	74_37	rna	5.05	94	5	SNP	0.024	A
NTM	50863	genome.wustl.edu	37	11	132016295	132016295	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:132016295C>T	ENST00000374786.1	+	2	766	c.287C>T	c.(286-288)aCg>aTg	p.T96M	NTM_ENST00000427481.2_Missense_Mutation_p.T87M|NTM_ENST00000539799.1_Missense_Mutation_p.T96M|NTM_ENST00000374791.3_Missense_Mutation_p.T96M|NTM_ENST00000374784.1_Missense_Mutation_p.T96M|NTM_ENST00000425719.2_Missense_Mutation_p.T96M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	96	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AACACCCAAACGCAGTACAGC	0.577																																																	0													194.0	135.0	155.0					11																	132016295		2201	4297	6498	SO:0001583	missense	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.287C>T	11.37:g.132016295C>T	ENSP00000363918:p.Thr96Met		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T96M	ENST00000374786.1	37	c.287	CCDS8491.1	11	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328640	0.60743	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170160	0.52532	D	0.000064	T	0.32164	0.0820	N	0.25201	0.72	0.40809	D	0.983408	D;P;P;P;P;P	0.55172	0.97;0.941;0.686;0.941;0.872;0.686	P;P;P;P;P;P	0.54372	0.75;0.75;0.635;0.75;0.541;0.635	T	0.07443	-1.0772	10	0.62326	D	0.03	-25.1658	10.5623	0.45152	0.0:0.7956:0.1331:0.0713	.	96;87;96;96;96;96	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	96;96;87;87;96;96;96	ENSP00000363923:T96M;ENSP00000437668:T96M;ENSP00000448104:T87M;ENSP00000416320:T87M;ENSP00000363918:T96M;ENSP00000396722:T96M;ENSP00000363916:T96M	ENSP00000363916:T96M	T	+	2	0	NTM	131521505	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.300000	0.43620	2.691000	0.91804	0.655000	0.94253	ACG	NTM	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000182667		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0.00	68	0	C	NM_016522		132016295	+1	tier1	-	no_errors	ENST00000539799	ensembl	human	known	74_37	missense	26.25	59	21	SNP	1.000	T
ODF2	4957	genome.wustl.edu	37	9	131235307	131235307	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:131235307G>A	ENST00000434106.3	+	7	1060	c.697G>A	c.(697-699)Ggg>Agg	p.G233R	ODF2_ENST00000604420.1_Missense_Mutation_p.G233R|ODF2_ENST00000535026.1_Missense_Mutation_p.R117Q|ODF2_ENST00000351030.3_Missense_Mutation_p.G228R|ODF2_ENST00000444119.2_Missense_Mutation_p.G209R|ODF2_ENST00000546203.1_Missense_Mutation_p.G214R|ODF2_ENST00000372807.5_Missense_Mutation_p.G228R|ODF2_ENST00000393527.3_Missense_Mutation_p.G209R|ODF2_ENST00000393533.2_Missense_Mutation_p.G233R|ODF2_ENST00000448249.3_Missense_Mutation_p.G152R|ODF2_ENST00000372791.3_Missense_Mutation_p.G214R|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372814.3_Missense_Mutation_p.G277R	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	233					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGATACCATCGGGAAGCTGAA	0.612																																																	0													69.0	57.0	61.0					9																	131235307		2203	4300	6503	SO:0001583	missense	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.697G>A	9.37:g.131235307G>A	ENSP00000403453:p.Gly233Arg		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.G233R	ENST00000434106.3	37	c.697	CCDS56588.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.63|14.63	2.592625|2.592625	0.46214|0.46214	.|.	.|.	ENSG00000136811|ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000421776;ENST00000444119;ENST00000546203;ENST00000432065;ENST00000372791|ENST00000535026	T;T;T;T;T;T;T;T;T;T|.	0.39997|.	1.05;1.05;1.05;1.05;2.01;1.05;2.01;1.05;1.05;1.05|.	5.69|5.69	4.8|4.8	0.61643|0.61643	.|.	0.518194|.	0.22627|.	N|.	0.057622|.	T|T	0.41305|0.41305	0.1153|0.1153	L|L	0.32530|0.32530	0.975|0.975	0.23249|0.23249	N|N	0.998044|0.998044	B;B;B;B;B;B;B;B;B;B|.	0.33379|.	0.175;0.281;0.055;0.242;0.011;0.027;0.145;0.175;0.281;0.41|.	B;B;B;B;B;B;B;B;B;B|.	0.22386|.	0.026;0.039;0.011;0.028;0.006;0.01;0.016;0.026;0.039;0.039|.	T|T	0.36841|0.36841	-0.9731|-0.9731	10|6	0.29301|0.87932	T|D	0.29|0	-30.2222|-30.2222	11.7471|11.7471	0.51825|0.51825	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	214;228;152;167;233;277;228;214;233;209|.	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3|.	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.|.	R|Q	233;277;228;233;209;152;152;209;214;157;214|117	ENSP00000377166:G233R;ENSP00000361901:G277R;ENSP00000342581:G228R;ENSP00000361882:G233R;ENSP00000307781:G209R;ENSP00000396687:G152R;ENSP00000394506:G209R;ENSP00000437579:G214R;ENSP00000407852:G157R;ENSP00000361877:G214R|.	ENSP00000307781:G209R|ENSP00000443178:R117Q	G|R	+|+	1|2	0|0	ODF2|ODF2	130275128|130275128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.882000|0.882000	0.50991|0.50991	4.703000|4.703000	0.61824|0.61824	1.418000|1.418000	0.47098|0.47098	-0.266000|-0.266000	0.10368|0.10368	GGG|CGG	ODF2	-	NULL	ENSG00000136811		0.612	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	-	0.00	68	0	G			131235307	+1	tier1	-	no_errors	ENST00000434106	ensembl	human	known	74_37	missense	10.45	60	7	SNP	1.000	A
OPN1LW	5956	genome.wustl.edu	37	X	153420169	153420169	+	Silent	SNP	T	T	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:153420169T>G	ENST00000369951.4	+	4	759	c.699T>G	c.(697-699)gcT>gcG	p.A233A	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	233					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCACTCGCTATCATCATGC	0.607																																																	0													317.0	227.0	257.0					X																	153420169		2187	4249	6436	SO:0001819	synonymous_variant	0			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.699T>G	X.37:g.153420169T>G				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.A233	ENST00000369951.4	37	c.699	CCDS14742.1	X																																																																																			OPN1LW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000102076		0.607	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	HGNC	protein_coding	OTTHUMT00000082839.2	-	0.00	60	0	T	NM_020061		153420169	+1	tier1	-	no_errors	ENST00000369951	ensembl	human	known	74_37	silent	37.18	49	29	SNP	0.991	G
OR10A6	390093	genome.wustl.edu	37	11	7949268	7949268	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:7949268G>C	ENST00000309838.2	-	1	941	c.942C>G	c.(940-942)atC>atG	p.I314M		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACACAGTCAGATTGTGTGTA	0.363																																																	0													114.0	102.0	106.0					11																	7949268		2201	4296	6497	SO:0001583	missense	0			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.942C>G	11.37:g.7949268G>C	ENSP00000312470:p.Ile314Met		Q6IF59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I314M	ENST00000309838.2	37	c.942	CCDS31420.1	11	.	.	.	.	.	.	.	.	.	.	G	0.947	-0.707629	0.03230	.	.	ENSG00000175393	ENST00000309838	T	0.06371	3.31	4.4	-2.43	0.06522	.	1.216660	0.06244	N	0.691017	T	0.03263	0.0095	N	0.14661	0.345	0.09310	N	0.999999	B	0.25169	0.119	B	0.15870	0.014	T	0.43065	-0.9414	10	0.66056	D	0.02	.	1.0849	0.01650	0.2575:0.2823:0.3159:0.1444	.	314	Q8NH74	O10A6_HUMAN	M	314	ENSP00000312470:I314M	ENSP00000312470:I314M	I	-	3	3	OR10A6	7905844	0.011000	0.17503	0.024000	0.17045	0.021000	0.10359	-0.055000	0.11807	-0.589000	0.05874	-0.165000	0.13383	ATC	OR10A6	-	NULL	ENSG00000175393		0.363	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A6	HGNC	protein_coding	OTTHUMT00000385703.1	-	0.00	63	0	G	NM_001004461		7949268	-1	tier1	-	no_errors	ENST00000309838	ensembl	human	known	74_37	missense	23.81	48	15	SNP	0.047	C
OR1C1	26188	genome.wustl.edu	37	1	247921358	247921358	+	Silent	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:247921358C>G	ENST00000408896.2	-	1	624	c.351G>C	c.(349-351)gtG>gtC	p.V117V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	117					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATACGCCATCACACACAGAA	0.488																																																	0													64.0	60.0	61.0					1																	247921358		1992	4167	6159	SO:0001819	synonymous_variant	0			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.351G>C	1.37:g.247921358C>G			B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V117	ENST00000408896.2	37	c.351	CCDS41481.1	1																																																																																			OR1C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000221888		0.488	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	-	0.00	54	0	C			247921358	-1	tier1	-	no_errors	ENST00000408896	ensembl	human	known	74_37	silent	8.96	61	6	SNP	0.998	G
OR2M2	391194	genome.wustl.edu	37	1	248344136	248344136	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:248344136C>T	ENST00000359682.2	+	1	849	c.849C>T	c.(847-849)ccC>ccT	p.P283P		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P283P(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCTCACTCCCATGCTGAATC	0.483																																																	2	Substitution - coding silent(2)	lung(2)											180.0	165.0	170.0					1																	248344136		2203	4298	6501	SO:0001819	synonymous_variant	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.849C>T	1.37:g.248344136C>T			A3KFT4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P283	ENST00000359682.2	37	c.849	CCDS31106.1	1																																																																																			OR2M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000198601		0.483	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0.00	107	0	C	NM_001004688		248344136	+1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	silent	7.58	122	10	SNP	0.030	T
OR8I2	120586	genome.wustl.edu	37	11	55861330	55861330	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:55861330C>G	ENST00000302124.2	+	1	578	c.547C>G	c.(547-549)Ctt>Gtt	p.L183V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L183F(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CACCACAGCTCTTTTAGCACT	0.438																																																	1	Substitution - Missense(1)	skin(1)											152.0	141.0	145.0					11																	55861330		2201	4296	6497	SO:0001583	missense	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.547C>G	11.37:g.55861330C>G	ENSP00000303864:p.Leu183Val		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L183V	ENST00000302124.2	37	c.547	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.090045	0.07053	.	.	ENSG00000172154	ENST00000302124	T	0.00076	8.76	4.33	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003003	T	0.00109	0.0003	L	0.31207	0.915	0.09310	N	1	P	0.37708	0.606	B	0.35859	0.212	T	0.42050	-0.9474	10	0.56958	D	0.05	-13.3861	8.563	0.33523	0.2585:0.601:0.1405:0.0	.	183	Q8N0Y5	OR8I2_HUMAN	V	183	ENSP00000303864:L183V	ENSP00000303864:L183V	L	+	1	0	OR8I2	55617906	0.000000	0.05858	0.805000	0.32314	0.087000	0.18053	-0.967000	0.03821	2.115000	0.64714	0.440000	0.28878	CTT	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000172154		0.438	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		-	0.00	23	0	C	NM_001003750		55861330	+1	tier1	-	no_errors	ENST00000302124	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.014	G
P2RY10	27334	genome.wustl.edu	37	X	78216383	78216383	+	Nonsense_Mutation	SNP	T	T	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:78216383T>A	ENST00000171757.2	+	4	646	c.366T>A	c.(364-366)tgT>tgA	p.C122*	P2RY10_ENST00000544091.1_Nonsense_Mutation_p.C122*|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCAGCATTTGTTTCCTGACGT	0.502																																																	0													127.0	115.0	119.0					X																	78216383		2203	4300	6503	SO:0001587	stop_gained	0			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.366T>A	X.37:g.78216383T>A	ENSP00000171757:p.Cys122*		D3DTE5|Q4VBN7|Q86V16	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.C122*	ENST00000171757.2	37	c.366	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861804	0.17178	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	.	.	.	4.74	-3.48	0.04739	.	0.439106	0.22876	N	0.054574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	11.8315	0.52299	0.0:0.4842:0.0:0.5158	.	.	.	.	X	122	.	ENSP00000171757:C122X	C	+	3	2	P2RY10	78103039	0.000000	0.05858	0.359000	0.25824	0.160000	0.22226	-0.761000	0.04751	-0.917000	0.03813	-1.526000	0.00926	TGT	P2RY10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000078589		0.502	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	-	0.00	20	0	T			78216383	+1	tier1	-	no_errors	ENST00000171757	ensembl	human	known	74_37	nonsense	17.39	19	4	SNP	0.148	A
PBRM1	55193	genome.wustl.edu	37	3	52597511	52597511	+	Splice_Site	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:52597511T>C	ENST00000296302.7	-	24	3877		c.e24-2		PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000409767.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTGGTTTTCTGAAAAAAGTG	0.413			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											75.0	71.0	72.0					3																	52597511		2203	4300	6503	SO:0001630	splice_region_variant	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3876-2A>G	3.37:g.52597511T>C			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	-	e24-2	ENST00000296302.7	37	c.3876-2		3	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742400	0.69418	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5126	0.67797	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52572551	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	7.993000	0.88291	2.216000	0.71823	0.459000	0.35465	.	PBRM1	-	-	ENSG00000163939		0.413	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1		0.00	33	0	T	NM_018165	Intron	52597511	-1			no_errors	ENST00000296302	ensembl	human	known	74_37	splice_site	5.88	32	2	SNP	1.000	C
PCM1	5108	genome.wustl.edu	37	8	17813047	17813047	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:17813047G>C	ENST00000519253.1	+	10	1608	c.1357G>C	c.(1357-1359)Gtt>Ctt	p.V453L	PCM1_ENST00000325083.8_Missense_Mutation_p.V453L|PCM1_ENST00000524226.1_Missense_Mutation_p.V453L|PCM1_ENST00000518537.1_Missense_Mutation_p.V492L			Q15154	PCM1_HUMAN	pericentriolar material 1	453					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CTTGGCACCGGTTGTCAATGG	0.448			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	0													89.0	83.0	85.0					8																	17813047		1928	4134	6062	SO:0001583	missense	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1357G>C	8.37:g.17813047G>C	ENSP00000431099:p.Val453Leu		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.V453L	ENST00000519253.1	37	c.1357		8	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591758	0.28357	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000519253;ENST00000524226	T;T;T;T;T	0.23348	3.67;2.78;1.91;3.67;3.43	4.79	2.97	0.34412	.	0.622695	0.17867	N	0.159318	T	0.18341	0.0440	L	0.36672	1.1	0.27499	N	0.952052	B;B;B;B	0.15930	0.012;0.015;0.01;0.012	B;B;B;B	0.22880	0.03;0.042;0.022;0.03	T	0.18209	-1.0344	10	0.28530	T	0.3	-5.044	6.7232	0.23342	0.1522:0.0:0.7054:0.1424	.	453;492;453;453	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	L	453;492;492;492;453;453	ENSP00000327077:V453L;ENSP00000428131:V492L;ENSP00000428123:V492L;ENSP00000431099:V453L;ENSP00000430521:V453L	ENSP00000327077:V453L	V	+	1	0	PCM1	17857327	0.948000	0.32251	0.702000	0.30337	0.751000	0.42716	1.545000	0.36169	0.692000	0.31613	0.655000	0.94253	GTT	PCM1	-	NULL	ENSG00000078674		0.448	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	-	0.00	88	0	G	NM_006197		17813047	+1	tier1	-	no_errors	ENST00000325083	ensembl	human	known	74_37	missense	21.09	101	27	SNP	0.421	C
PDE9A	5152	genome.wustl.edu	37	21	44153470	44153470	+	Missense_Mutation	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr21:44153470T>C	ENST00000291539.6	+	7	562	c.502T>C	c.(502-504)Ttc>Ctc	p.F168L	PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398229.3_Missense_Mutation_p.F34L|PDE9A_ENST00000335512.4_Missense_Mutation_p.F108L|PDE9A_ENST00000328862.6_Missense_Mutation_p.F142L|PDE9A_ENST00000349112.3_Missense_Mutation_p.F40L|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000398232.3_Missense_Mutation_p.F101L|PDE9A_ENST00000398236.3_Missense_Mutation_p.F82L|PDE9A_ENST00000398234.3_Missense_Mutation_p.F67L|PDE9A_ENST00000398224.3_Missense_Mutation_p.F41L|PDE9A_ENST00000398225.3_Missense_Mutation_p.F127L|PDE9A_ENST00000398227.3_Missense_Mutation_p.F8L|PDE9A_ENST00000380328.2_Missense_Mutation_p.F115L|PDE9A_ENST00000539837.1_Missense_Mutation_p.F40L|PDE9A_ENST00000335440.6_Missense_Mutation_p.F66L	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	168					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TCCTAGAGCATTCAAAATCAA	0.413																																																	0													111.0	101.0	105.0					21																	44153470		2203	4300	6503	SO:0001583	missense	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.502T>C	21.37:g.44153470T>C	ENSP00000291539:p.Phe168Leu		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.F168L	ENST00000291539.6	37	c.502	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975949	0.34848	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.38;-0.67;-0.56;-0.58;-0.63;-0.49;-0.46;-0.57;-0.43;-0.56;-0.6;-0.39;-0.64;-0.53	5.61	5.61	0.85477	.	27.069100	0.00166	U	0.000006	T	0.78149	0.4238	L	0.32530	0.975	0.38563	D	0.94974	D;B;B;D;D;D;P;D;P;D;D;P;D;P	0.64830	0.994;0.331;0.281;0.982;0.994;0.994;0.658;0.994;0.858;0.994;0.984;0.652;0.994;0.947	D;B;B;P;D;P;B;P;P;P;P;P;P;P	0.64687	0.928;0.263;0.19;0.853;0.928;0.884;0.331;0.884;0.465;0.775;0.785;0.55;0.884;0.576	T	0.64309	-0.6438	10	0.10377	T	0.69	.	14.0219	0.64560	0.0:0.0:0.0:1.0	.	101;82;67;142;127;60;108;8;34;40;66;115;41;168	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	L	108;40;168;115;101;67;82;142;66;127;34;8;40;41	ENSP00000335242:F108L;ENSP00000441899:F40L;ENSP00000291539:F168L;ENSP00000369685:F115L;ENSP00000381287:F101L;ENSP00000381289:F67L;ENSP00000381291:F82L;ENSP00000328699:F142L;ENSP00000335365:F66L;ENSP00000381281:F127L;ENSP00000381285:F34L;ENSP00000381283:F8L;ENSP00000344730:F40L;ENSP00000381280:F41L	ENSP00000291539:F168L	F	+	1	0	PDE9A	43026539	1.000000	0.71417	0.879000	0.34478	0.611000	0.37282	4.800000	0.62524	2.123000	0.65237	0.482000	0.46254	TTC	PDE9A	-	NULL	ENSG00000160191		0.413	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	-	0.00	126	0	T			44153470	+1	tier1	-	no_errors	ENST00000291539	ensembl	human	known	74_37	missense	19.53	103	25	SNP	0.978	C
PFDN1	5201	genome.wustl.edu	37	5	139682640	139682640	+	Missense_Mutation	SNP	G	G	C	rs371310256		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:139682640G>C	ENST00000261813.4	-	1	66	c.19C>G	c.(19-21)Cta>Gta	p.L7V	PFDN1_ENST00000514611.1_5'Flank|PFDN1_ENST00000524074.1_Missense_Mutation_p.L7V|PFDN1_ENST00000510217.1_Missense_Mutation_p.L7V	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	7					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGCTCTAGATCCACGGGG	0.557																																																	0								G	VAL/LEU	0,4406		0,0,2203	225.0	244.0	237.0		19	1.9	1.0	5		237	1,8599		0,1,4299	no	missense	PFDN1	NM_002622.4	32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	7/123	139682640	1,13005	2203	4300	6503	SO:0001583	missense	0			Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"""prefoldin 1"""			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.19C>G	5.37:g.139682640G>C	ENSP00000261813:p.Leu7Val		B2RD02|Q53F95|Q96EX6	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.L7V	ENST00000261813.4	37	c.19	CCDS4222.1	5	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429605	0.43122	0.0	1.16E-4	ENSG00000113068	ENST00000261813;ENST00000510217;ENST00000524074	T;T	0.45276	0.94;0.9	5.63	1.94	0.25998	.	0.148924	0.45361	D	0.000361	T	0.35451	0.0932	L	0.58101	1.795	0.38641	D	0.951612	B	0.25955	0.138	B	0.21151	0.033	T	0.15809	-1.0424	10	0.30854	T	0.27	-3.5942	10.5866	0.45286	0.3207:0.0:0.6793:0.0	.	7	O60925	PFD1_HUMAN	V	7	ENSP00000261813:L7V;ENSP00000428707:L7V	ENSP00000261813:L7V	L	-	1	2	PFDN1	139662824	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	3.699000	0.54778	0.075000	0.16796	-0.140000	0.14226	CTA	PFDN1	-	NULL	ENSG00000113068		0.557	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN1	HGNC	protein_coding	OTTHUMT00000251354.3	-	0.00	105	0	G	NM_002622		139682640	-1	tier1	-	no_errors	ENST00000261813	ensembl	human	known	74_37	missense	22.64	82	24	SNP	1.000	C
PGM1	5236	genome.wustl.edu	37	1	64089294	64089294	+	Intron	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:64089294G>C	ENST00000371084.3	+	2	459				PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371083.4_Missense_Mutation_p.E55Q	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1						carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGCTATCTGGAGAATTTCAT	0.423																																																	0													70.0	71.0	71.0					1																	64089294		876	1991	2867	SO:0001627	intron_variant	0			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.247-5802G>C	1.37:g.64089294G>C			B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.E55Q	ENST00000371084.3	37	c.163	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574020	0.45902	.	.	ENSG00000079739	ENST00000371083	T	0.63744	-0.06	4.83	3.83	0.44106	.	.	.	.	.	T	0.52917	0.1764	M	0.75085	2.285	0.80722	D	1	P	0.39920	0.695	B	0.40101	0.319	T	0.62034	-0.6939	9	0.54805	T	0.06	-25.5408	12.2639	0.54665	0.0:0.3731:0.6269:0.0	.	55	P36871-2	.	Q	55	ENSP00000360124:E55Q	ENSP00000360124:E55Q	E	+	1	0	PGM1	63861882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.319000	0.72871	2.618000	0.88619	0.557000	0.71058	GAG	PGM1	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000079739		0.423	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	-	0.00	75	0	G	NM_002633		64089294	+1	tier1	-	no_errors	ENST00000371083	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	C
JADE3	9767	genome.wustl.edu	37	X	46915568	46915568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:46915568C>T	ENST00000218343.4	+	10	1826	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*	PHF16_ENST00000397189.1_Nonsense_Mutation_p.Q510*	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTTCGGTTTGCAAGTCCAGCT	0.383																																																	0													113.0	93.0	100.0					X																	46915568		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000218343.4:c.1528C>T	X.37:g.46915568C>T	ENSP00000218343:p.Gln510*			Nonsense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q510*	ENST00000218343.4	37	c.1528	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.590433	0.97688	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	.	.	.	5.77	4.88	0.63580	.	0.144416	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	15.6746	0.77307	0.0:0.8663:0.1337:0.0	.	.	.	.	X	510	.	ENSP00000218343:Q510X	Q	+	1	0	PHF16	46800512	1.000000	0.71417	0.862000	0.33874	0.240000	0.25518	4.578000	0.60929	1.145000	0.42336	0.600000	0.82982	CAA	PHF16	-	NULL	ENSG00000102221		0.383	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	-	0.00	75	0	C			46915568	+1	tier1	-	no_errors	ENST00000218343	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	T
PI4KA	5297	genome.wustl.edu	37	22	21174836	21174836	+	Missense_Mutation	SNP	G	G	C	rs371865226		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:21174836G>C	ENST00000572273.1	-	5	576	c.346C>G	c.(346-348)Caa>Gaa	p.Q116E	PI4KA_ENST00000255882.6_Missense_Mutation_p.Q174E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	116					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTTTGTCTTGAATCTCCAAG	0.388																																					GBM(136;1332 1831 3115 23601 50806)												0													111.0	104.0	106.0					22																	21174836		2203	4300	6503	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.346C>G	22.37:g.21174836G>C	ENSP00000458238:p.Gln116Glu		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q174E	ENST00000572273.1	37	c.520		22	.	.	.	.	.	.	.	.	.	.	G	9.359	1.067542	0.20067	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.57	5.57	0.84162	.	0.113491	0.64402	D	0.000010	T	0.54447	0.1859	L	0.45581	1.43	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.15052	0.012;0.01	T	0.54351	-0.8307	9	0.02654	T	1	-13.4334	19.918	0.97070	0.0:0.0:1.0:0.0	.	174;116	D3DX33;P42356	.;PI4KA_HUMAN	E	116	.	ENSP00000255882:Q116E	Q	-	1	0	PI4KA	19504836	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.979000	0.93455	2.785000	0.95823	0.591000	0.81541	CAA	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.388	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0.00	69	0	G	NM_058004		21174836	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	11.76	120	16	SNP	1.000	C
PIGN	23556	genome.wustl.edu	37	18	59749943	59749943	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:59749943C>G	ENST00000357637.5	-	28	2954	c.2539G>C	c.(2539-2541)Gaa>Caa	p.E847Q	PIGN_ENST00000400334.3_Missense_Mutation_p.E847Q	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	847					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TGAACTGCTTCAAAAGCACAC	0.303																																																	0													55.0	48.0	50.0					18																	59749943		1809	4058	5867	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2539G>C	18.37:g.59749943C>G	ENSP00000350263:p.Glu847Gln		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E847Q	ENST00000357637.5	37	c.2539	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918155	0.73098	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.55930	0.49;0.49	5.68	5.68	0.88126	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.68765	0.96;0.96	T	0.63037	-0.6726	10	0.28530	T	0.3	-25.8023	18.9257	0.92544	0.0:1.0:0.0:0.0	.	847;847	B2RCI8;O95427	.;PIGN_HUMAN	Q	847	ENSP00000350263:E847Q;ENSP00000383188:E847Q	ENSP00000350263:E847Q	E	-	1	0	PIGN	57900923	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.267000	0.72546	2.838000	0.97847	0.591000	0.81541	GAA	PIGN	-	pfam_GPI_EtnP_transferase_1_C	ENSG00000197563		0.303	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	-	0.00	62	0	C	NM_176787		59749943	-1	tier1	-	no_errors	ENST00000357637	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	G
PIWIL1	9271	genome.wustl.edu	37	12	130847365	130847365	+	Silent	SNP	C	C	G	rs377358932		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:130847365C>G	ENST00000245255.3	+	17	2297	c.2025C>G	c.(2023-2025)ctC>ctG	p.L675L		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	675	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAGATGGGCTCAAAGTCTGCC	0.458																																																	0													120.0	109.0	113.0					12																	130847365		2203	4300	6503	SO:0001819	synonymous_variant	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2025C>G	12.37:g.130847365C>G			A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.L675	ENST00000245255.3	37	c.2025	CCDS9268.1	12																																																																																			PIWIL1	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000125207		0.458	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	-	0.00	84	0	C			130847365	+1	tier1	-	no_errors	ENST00000245255	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.996	G
PLA2G4F	255189	genome.wustl.edu	37	15	42444892	42444892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:42444892C>A	ENST00000382396.4	-	7	681	c.595G>T	c.(595-597)Gag>Tag	p.E199*	PLA2G4F_ENST00000397272.3_Nonsense_Mutation_p.E199*			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	199					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCACCGTACTCTTCCCGTGGG	0.607																																																	0													58.0	47.0	51.0					15																	42444892		2181	4265	6446	SO:0001587	stop_gained	0				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.595G>T	15.37:g.42444892C>A	ENSP00000371833:p.Glu199*		Q6ZMC8	Nonsense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.E199*	ENST00000382396.4	37	c.595	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727561	0.69074	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	.	.	.	5.21	3.34	0.38264	.	0.466822	0.19906	N	0.103408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-10.0911	7.3471	0.26670	0.0:0.8099:0.0:0.1901	.	.	.	.	X	195;199;199;199;199	.	ENSP00000290497:E195X	E	-	1	0	PLA2G4F	40232184	0.000000	0.05858	0.030000	0.17652	0.183000	0.23260	-0.322000	0.08007	1.578000	0.49821	0.655000	0.94253	GAG	PLA2G4F	-	NULL	ENSG00000168907		0.607	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	-	0.00	72	0	C	NM_213600		42444892	-1	tier1	-	no_errors	ENST00000397272	ensembl	human	known	74_37	nonsense	12.00	66	9	SNP	0.010	A
PLXNB1	5364	genome.wustl.edu	37	3	48455320	48455320	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:48455320G>C	ENST00000358536.4	-	22	4639	c.4370C>G	c.(4369-4371)tCt>tGt	p.S1457C	PLXNB1_ENST00000456774.1_Missense_Mutation_p.S1274C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S1457C|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000358459.4_Missense_Mutation_p.S1274C|PLXNB1_ENST00000448774.2_Missense_Mutation_p.S68C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1457					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCAGGCAAAGAGTCAGGTGC	0.657																																																	0													41.0	44.0	43.0					3																	48455320		2203	4300	6503	SO:0001583	missense	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4370C>G	3.37:g.48455320G>C	ENSP00000351338:p.Ser1457Cys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	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.S1457C	ENST00000358536.4	37	c.4370	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932361	0.18131	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.12361	3.93;3.94;3.93;2.69;3.94	5.43	3.61	0.41365	.	0.794813	0.11301	N	0.578232	T	0.21962	0.0529	L	0.46157	1.445	0.09310	N	1	P;P	0.39094	0.523;0.659	B;P	0.51415	0.285;0.669	T	0.19943	-1.0290	10	0.59425	D	0.04	.	6.1863	0.20500	0.168:0.0:0.6797:0.1523	.	1457;1274	O43157;O43157-2	PLXB1_HUMAN;.	C	1457;1274;1457;68;1274	ENSP00000296440:S1457C;ENSP00000351242:S1274C;ENSP00000351338:S1457C;ENSP00000389320:S68C;ENSP00000414199:S1274C	ENSP00000296440:S1457C	S	-	2	0	PLXNB1	48430324	0.498000	0.26075	0.001000	0.08648	0.387000	0.30353	3.721000	0.54941	0.630000	0.30394	-0.251000	0.11542	TCT	PLXNB1	-	NULL	ENSG00000164050		0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1		0.00	67	0	G	NM_002673		48455320	-1			no_errors	ENST00000296440	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.000	C
PLSCR1	5359	genome.wustl.edu	37	3	146251305	146251305	+	Missense_Mutation	SNP	T	T	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:146251305T>G	ENST00000342435.4	-	3	456	c.46A>C	c.(46-48)Aac>Cac	p.N16H	PLSCR1_ENST00000487389.1_Missense_Mutation_p.N9H|PLSCR1_ENST00000448787.2_Missense_Mutation_p.Q7H|PLSCR1_ENST00000448205.1_5'UTR	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	16	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						ACTGGCAAGTTTGTTTCCGGG	0.368																																																	0													109.0	112.0	111.0					3																	146251305		2203	4300	6503	SO:0001583	missense	0			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.46A>C	3.37:g.146251305T>G	ENSP00000345494:p.Asn16His		B2R8H8|B4DTE8	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.N16H	ENST00000342435.4	37	c.46	CCDS3135.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.83|10.83	1.462318|1.462318	0.26248|0.26248	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349|ENST00000448787;ENST00000486631	T;T;T;T|T;T	0.22945|0.31769	2.26;2.25;2.25;1.93|1.91;1.48	3.37|3.37	-6.74|-6.74	0.01743|0.01743	.|.	.|.	.|.	.|.	.|.	T|T	0.13970|0.13970	0.0338|0.0338	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	B;B|B	0.11235|0.02656	0.004;0.002|0.0	B;B|B	0.08055|0.01281	0.003;0.001|0.0	T|T	0.26189|0.26189	-1.0110|-1.0110	9|8	0.14252|.	T|.	0.57|.	.|.	0.6439|0.6439	0.00815|0.00815	0.2675:0.285:0.2568:0.1907|0.2675:0.285:0.2568:0.1907	.|.	16;16|7	Q8WVK1;O15162|B4DTE8	.;PLS1_HUMAN|.	H|H	16;9;16;16|7	ENSP00000345494:N16H;ENSP00000417792:N9H;ENSP00000418103:N16H;ENSP00000420523:N16H|ENSP00000411675:Q7H;ENSP00000418550:Q7H	ENSP00000345494:N16H|.	N|Q	-|-	1|3	0|2	PLSCR1|PLSCR1	147733995|147733995	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.624000|-1.624000	0.02038|0.02038	-1.919000|-1.919000	0.01071|0.01071	-1.123000|-1.123000	0.02005|0.02005	AAC|CAA	PLSCR1	-	NULL	ENSG00000188313		0.368	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLSCR1	HGNC	protein_coding	OTTHUMT00000355257.2	-	0.00	63	0	T	NM_021105		146251305	-1	tier1	-	no_errors	ENST00000342435	ensembl	human	known	74_37	missense	11.49	77	10	SNP	0.000	G
POM121	9883	genome.wustl.edu	37	7	72413681	72413681	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:72413681C>T	ENST00000434423.2	+	11	3149	c.3149C>T	c.(3148-3150)cCc>cTc	p.P1050L	POM121_ENST00000446813.1_Missense_Mutation_p.P785L|POM121_ENST00000358357.3_Missense_Mutation_p.P785L|POM121_ENST00000257622.4_Missense_Mutation_p.P785L|POM121_ENST00000395270.1_Missense_Mutation_p.P785L			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1050	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|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)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCGGCGCTCCCGCCAGCTCA	0.667																																																	0													33.0	36.0	35.0					7																	72413681		2203	4297	6500	SO:0001583	missense	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3149C>T	7.37:g.72413681C>T	ENSP00000405562:p.Pro1050Leu		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.P1050L	ENST00000434423.2	37	c.3149		7	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898777	0.33535	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.10099	2.91;3.06;2.91;3.06;3.25	2.87	2.87	0.33458	.	0.404164	0.18188	N	0.148927	T	0.11537	0.0281	L	0.51422	1.61	0.25074	N	0.990972	B;B	0.34103	0.058;0.437	B;B	0.33254	0.037;0.16	T	0.15065	-1.0450	10	0.87932	D	0	.	11.3136	0.49379	0.0:1.0:0.0:0.0	.	785;1050	A8MXF9;Q96HA1	.;P121A_HUMAN	L	785;785;785;785;1050	ENSP00000393020:P785L;ENSP00000257622:P785L;ENSP00000378687:P785L;ENSP00000351124:P785L;ENSP00000405562:P1050L	ENSP00000257622:P785L	P	+	2	0	POM121	72051617	0.014000	0.17966	0.063000	0.19743	0.113000	0.19764	2.368000	0.44222	1.611000	0.50210	0.173000	0.16961	CCC	POM121	-	NULL	ENSG00000196313		0.667	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	-	0.00	172	0	C			72413681	+1	tier1	-	no_errors	ENST00000434423	ensembl	human	known	74_37	missense	5.52	154	9	SNP	0.266	T
POTEC	388468	genome.wustl.edu	37	18	14538222	14538222	+	Missense_Mutation	SNP	T	T	C	rs560489076	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:14538222T>C	ENST00000358970.5	-	2	547	c.548A>G	c.(547-549)aAt>aGt	p.N183S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	183										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAATTTCCATTGGCAGAGGC	0.408													.|||	21	0.00419329	0.0008	0.0	5008	,	,		20008	0.0		0.0	False		,,,				2504	0.0204																0																																										SO:0001583	missense	0			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.548A>G	18.37:g.14538222T>C	ENSP00000351856:p.Asn183Ser			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N183S	ENST00000358970.5	37	c.548	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	T	6.798	0.516244	0.12944	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.63096	-0.02	1.4	-1.57	0.08506	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.35248	0.0925	N	0.11201	0.11	0.20764	N	0.999855	B	0.18013	0.025	B	0.19666	0.026	T	0.19516	-1.0303	9	0.54805	T	0.06	.	1.4831	0.02441	0.3118:0.2223:0.0:0.4659	.	183	B2RU33	POTEC_HUMAN	S	183	ENSP00000351856:N183S	ENSP00000351856:N183S	N	-	2	0	POTEC	14528222	0.950000	0.32346	0.239000	0.24122	0.091000	0.18340	-0.099000	0.11007	-0.424000	0.07382	0.163000	0.16589	AAT	POTEC	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000183206		0.408	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	-	0.00	52	0	T	XM_496269		14538222	-1	tier1	-	no_errors	ENST00000358970	ensembl	human	known	74_37	missense	27.66	34	13	SNP	0.980	C
PPFIA1	8500	genome.wustl.edu	37	11	70218320	70218320	+	Splice_Site	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:70218320G>C	ENST00000253925.7	+	22	3080		c.e22-1		PPFIA1_ENST00000530548.1_Splice_Site|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000389547.3_Splice_Site|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ATGAAAAGCAGACACTCGCCT	0.438																																																	0													49.0	52.0	51.0					11																	70218320		2200	4294	6494	SO:0001630	splice_region_variant	0			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2866-1G>C	11.37:g.70218320G>C			A6NLE3|Q13135|Q14567|Q8N4I2	Splice_Site	SNP	-	e21-1	ENST00000253925.7	37	c.2866-1	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591040	0.46214	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8317	0.92143	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIA1	69895968	1.000000	0.71417	0.992000	0.48379	0.311000	0.27955	9.572000	0.98179	2.442000	0.82660	0.551000	0.68910	.	PPFIA1	-	-	ENSG00000131626		0.438	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	-	0.00	66	0	G	NM_003626	Intron	70218320	+1	tier1	-	no_errors	ENST00000253925	ensembl	human	known	74_37	splice_site	13.40	84	13	SNP	1.000	C
PPP1R18	170954	genome.wustl.edu	37	6	30652519	30652519	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:30652519G>T	ENST00000274853.3	-	1	3153	c.1277C>A	c.(1276-1278)cCa>cAa	p.P426Q	PPP1R18_ENST00000399199.3_Missense_Mutation_p.P426Q|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	426						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ggctggtggtgggggCTGGAG	0.672																																																	0													14.0	15.0	15.0					6																	30652519		1130	2437	3567	SO:0001583	missense	0			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1277C>A	6.37:g.30652519G>T	ENSP00000274853:p.Pro426Gln		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	NULL	p.P426Q	ENST00000274853.3	37	c.1277	CCDS43444.1	6	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776742	0.49786	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.28454	1.61;1.61	4.74	2.77	0.32553	.	0.429529	0.17216	N	0.182501	T	0.31796	0.0808	L	0.47716	1.5	0.35513	D	0.800775	D	0.71674	0.998	D	0.66716	0.946	T	0.08046	-1.0741	10	0.54805	T	0.06	-5.5849	8.9482	0.35771	0.087:0.1495:0.7636:0.0	.	426	Q6NYC8	PPR18_HUMAN	Q	426	ENSP00000274853:P426Q;ENSP00000382150:P426Q	ENSP00000274853:P426Q	P	-	2	0	KIAA1949	30760498	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	4.381000	0.59587	2.189000	0.69895	0.561000	0.74099	CCA	PPP1R18	-	NULL	ENSG00000146112		0.672	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R18	HGNC	protein_coding	OTTHUMT00000076498.2	-	0.00	18	0	G	NM_133471		30652519	-1	tier1	-	no_errors	ENST00000274853	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T
PPP1R21	129285	genome.wustl.edu	37	2	48698298	48698298	+	Missense_Mutation	SNP	A	A	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:48698298A>G	ENST00000294952.8	+	10	1127	c.970A>G	c.(970-972)Agt>Ggt	p.S324G	PPP1R21_ENST00000281394.4_Missense_Mutation_p.S324G|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S324G	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	324						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTTATTTGAAAGTATCACTGA	0.398																																																	0													107.0	103.0	105.0					2																	48698298		2203	4300	6503	SO:0001583	missense	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.970A>G	2.37:g.48698298A>G	ENSP00000294952:p.Ser324Gly		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.S324G	ENST00000294952.8	37	c.970	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026610	0.75390	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.36	5.36	0.76844	.	0.077800	0.85682	D	0.000000	T	0.67230	0.2871	L	0.43152	1.355	0.80722	D	1	D;D;D;B;B	0.71674	0.998;0.998;0.998;0.38;0.181	D;D;D;B;B	0.69654	0.965;0.965;0.957;0.114;0.074	T	0.63633	-0.6593	9	0.28530	T	0.3	-13.46	15.5299	0.75952	1.0:0.0:0.0:0.0	.	324;324;324;324;324	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	G	324	.	ENSP00000281394:S324G	S	+	1	0	KLRAQ1	48551802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.505000	0.73708	2.254000	0.74563	0.459000	0.35465	AGT	PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C	ENSG00000162869		0.398	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	-	0.00	93	0	A	NM_152994		48698298	+1	tier1	-	no_errors	ENST00000294952	ensembl	human	known	74_37	missense	11.11	88	11	SNP	1.000	G
PRKDC	5591	genome.wustl.edu	37	8	48827892	48827892	+	Silent	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:48827892C>G	ENST00000314191.2	-	23	2669	c.2613G>C	c.(2611-2613)ctG>ctC	p.L871L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L871L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	871					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTTTACCTGTCAGAAGATTTT	0.294								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													70.0	61.0	64.0					8																	48827892		1781	4051	5832	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2613G>C	8.37:g.48827892C>G			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L871	ENST00000314191.2	37	c.2613		8																																																																																			PRKDC	-	NULL	ENSG00000253729		0.294	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	73	0	C	NM_001081640		48827892	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.308	G
PROX1	5629	genome.wustl.edu	37	1	214169993	214169993	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:214169993G>A	ENST00000366958.4	+	2	723	c.115G>A	c.(115-117)Gca>Aca	p.A39T	PROX1_ENST00000435016.1_Missense_Mutation_p.A39T|PROX1_ENST00000498508.2_Missense_Mutation_p.A39T|PROX1_ENST00000261454.4_Missense_Mutation_p.A39T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	39					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TAAGGCAAGAGCAACGTTTTT	0.478																																																	0													127.0	113.0	118.0					1																	214169993		2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.115G>A	1.37:g.214169993G>A	ENSP00000355925:p.Ala39Thr		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.A39T	ENST00000366958.4	37	c.115	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700924	0.68501	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48201	0.83;0.82;0.83;0.83	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	P	0.45998	0.5	T	0.49390	-0.8945	10	0.66056	D	0.02	-2.8466	20.3626	0.98863	0.0:0.0:1.0:0.0	.	39	Q92786	PROX1_HUMAN	T	39	ENSP00000420283:A39T;ENSP00000355925:A39T;ENSP00000400694:A39T;ENSP00000261454:A39T	ENSP00000261454:A39T	A	+	1	0	PROX1	212236616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.172000	0.71932	2.885000	0.99019	0.655000	0.94253	GCA	PROX1	-	NULL	ENSG00000117707		0.478	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0.00	79	0	G	NM_002763		214169993	+1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	12.66	69	10	SNP	1.000	A
PRPH	5630	genome.wustl.edu	37	12	49691473	49691473	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:49691473G>A	ENST00000257860.4	+	7	2730	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.V411I(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CTCCGTGCCCGTCCATTCTTT	0.632																																																	1	Substitution - Missense(1)	lung(1)											78.0	82.0	81.0					12																	49691473		2203	4300	6503	SO:0001583	missense	0				CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1231G>A	12.37:g.49691473G>A	ENSP00000257860:p.Val411Ile		Q5TFH5|Q6DK65	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I	p.V411I	ENST00000257860.4	37	c.1231	CCDS8783.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.540|8.540	0.872971|0.872971	0.17322|0.17322	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000532332|ENST00000257860	.|D	.|0.83673	.|-1.75	5.33|5.33	0.0835|0.0835	0.14433|0.14433	.|.	.|0.212640	.|0.23604	.|N	.|0.046406	T|T	0.63022|0.63022	0.2476|0.2476	N|N	0.19112|0.19112	0.55|0.55	0.21604|0.21604	N|N	0.999623|0.999623	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.47661|0.47661	-0.9100|-0.9100	5|10	.|0.02654	.|T	.|1	.|.	9.0005|9.0005	0.36079|0.36079	0.5273:0.0:0.4727:0.0|0.5273:0.0:0.4727:0.0	.|.	.|411	.|P41219	.|PERI_HUMAN	H|I	139|411	.|ENSP00000257860:V411I	.|ENSP00000257860:V411I	R|V	+|+	2|1	0|0	PRPH|PRPH	47977740|47977740	0.643000|0.643000	0.27269|0.27269	0.259000|0.259000	0.24435|0.24435	0.339000|0.339000	0.28857|0.28857	0.924000|0.924000	0.28777|0.28777	0.075000|0.075000	0.16796|0.16796	-0.136000|-0.136000	0.14681|0.14681	CGT|GTC	PRPH	-	NULL	ENSG00000135406		0.632	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH	HGNC	protein_coding	OTTHUMT00000393381.1		0.00	17	0	G	NM_006262		49691473	+1			no_errors	ENST00000257860	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.138	A
PSD4	23550	genome.wustl.edu	37	2	113943093	113943093	+	Intron	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:113943093C>T	ENST00000245796.6	+	4	1444				PSD4_ENST00000441564.3_Intron	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGATCATTCTTGGATCCAT	0.443																																																	0																																										SO:0001627	intron_variant	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1249+76C>T	2.37:g.113943093C>T			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	RNA	SNP	-	NULL	ENST00000245796.6	37	NULL	CCDS33276.1	2																																																																																			PSD4	-	-	ENSG00000125637		0.443	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0.00	16	0	C	NM_012455		113943093	+1	tier1	-	no_errors	ENST00000485525	ensembl	human	known	74_37	rna	36.84	12	7	SNP	0.010	T
PSKH2	85481	genome.wustl.edu	37	8	87076243	87076243	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:87076243G>C	ENST00000276616.2	-	2	877	c.803C>G	c.(802-804)aCa>aGa	p.T268R	PSKH2_ENST00000517981.1_5'Flank	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTAAAGCCTTGTCTGGCTTTC	0.408																																																	0													69.0	70.0	70.0					8																	87076243		2203	4300	6503	SO:0001583	missense	0			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.803C>G	8.37:g.87076243G>C	ENSP00000276616:p.Thr268Arg		A0AV22	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.T268R	ENST00000276616.2	37	c.803	CCDS6240.1	8	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822168	0.32237	.	.	ENSG00000147613	ENST00000276616	T	0.64085	-0.08	4.98	1.6	0.23607	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.49287	0.1548	N	0.17838	0.53	0.23430	N	0.997695	P	0.38335	0.627	P	0.44422	0.449	T	0.36456	-0.9747	9	0.25106	T	0.35	.	8.9243	0.35630	0.319:0.0:0.681:0.0	.	268	Q96QS6	KPSH2_HUMAN	R	268	ENSP00000276616:T268R	ENSP00000276616:T268R	T	-	2	0	PSKH2	87145359	0.955000	0.32602	0.045000	0.18777	0.799000	0.45148	2.121000	0.41977	0.462000	0.27095	0.655000	0.94253	ACA	PSKH2	-	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	ENSG00000147613		0.408	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH2	HGNC	protein_coding	OTTHUMT00000374628.1	-	0.00	82	0	G	NM_033126		87076243	-1	tier1	-	no_errors	ENST00000276616	ensembl	human	known	74_37	missense	7.07	92	7	SNP	0.742	C
PTPN13	5783	genome.wustl.edu	37	4	87684273	87684273	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:87684273C>G	ENST00000411767.2	+	24	4010	c.3947C>G	c.(3946-3948)tCa>tGa	p.S1316*	PTPN13_ENST00000316707.6_Nonsense_Mutation_p.S1125*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.S1316*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.S1297*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.S1316*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1316					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACTGATTACTCAGACCGTGGA	0.393																																																	0													121.0	121.0	121.0					4																	87684273		1901	4113	6014	SO:0001587	stop_gained	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3947C>G	4.37:g.87684273C>G	ENSP00000407249:p.Ser1316*		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S1316*	ENST00000411767.2	37	c.3947	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	c	44	11.158399	0.99524	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.45	3.71	0.42584	.	0.269957	0.26499	N	0.024025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	12.516	0.56032	0.0:0.8623:0.0:0.1377	.	.	.	.	X	1297;1316;1125;1316;1316;1265	.	ENSP00000322675:S1125X	S	+	2	0	PTPN13	87903297	0.995000	0.38212	0.012000	0.15200	0.271000	0.26615	3.462000	0.53042	0.647000	0.30713	-0.148000	0.13756	TCA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.393	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0.00	38	0	C			87684273	+1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	nonsense	12.77	41	6	SNP	0.919	G
PTPRF	5792	genome.wustl.edu	37	1	44088769	44088769	+	3'UTR	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:44088769G>T	ENST00000359947.4	+	0	7159				PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_3'UTR|PTPRF_ENST00000372414.3_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCACAGGTTAGGGTGTGTGCC	0.617																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.*1095G>T	1.37:g.44088769G>T			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	RNA	SNP	-	NULL	ENST00000359947.4	37	NULL	CCDS489.2	1																																																																																			PTPRF	-	-	ENSG00000142949		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0.00	40	0	G			44088769	+1	tier1	-	no_errors	ENST00000496447	ensembl	human	known	74_37	rna	10.26	35	4	SNP	0.104	T
PTPRZ1	5803	genome.wustl.edu	37	7	121513447	121513447	+	5'UTR	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:121513447G>A	ENST00000393386.2	+	0	305				PTPRZ1_ENST00000449182.1_5'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTATACACTGGAGGATTAAA	0.512																																																	0																																										SO:0001623	5_prime_UTR_variant	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.-107G>A	7.37:g.121513447G>A			A4D0W5|C9JFM0|O76043|Q9UDR6	RNA	SNP	-	NULL	ENST00000393386.2	37	NULL	CCDS34740.1	7																																																																																			PTPRZ1	-	-	ENSG00000106278		0.512	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0.00	44	0	G	NM_002851		121513447	+1	tier1	-	no_errors	ENST00000471837	ensembl	human	known	74_37	rna	10.26	35	4	SNP	0.011	A
RAB11FIP1	80223	genome.wustl.edu	37	8	37732209	37732209	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:37732209G>T	ENST00000330843.4	-	3	1458	c.1446C>A	c.(1444-1446)gaC>gaA	p.D482E	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.D334E|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.D334E|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.D482E	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	482				D -> G (in Ref. 2; AAQ18788). {ECO:0000305}.	protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTCTCACAAGGTCTTCAGCAG	0.557																																																	0													131.0	132.0	132.0					8																	37732209		2203	4300	6503	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1446C>A	8.37:g.37732209G>T	ENSP00000331342:p.Asp482Glu		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.D482E	ENST00000330843.4	37	c.1446	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737441	0.15574	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.30182	2.29;2.69;1.56;1.54	4.62	-0.715	0.11215	.	0.748628	0.12360	N	0.475760	T	0.15696	0.0378	L	0.33485	1.01	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.0;0.003	B;B;B;B	0.09377	0.002;0.004;0.002;0.004	T	0.29701	-1.0003	10	0.14252	T	0.57	.	1.5802	0.02633	0.362:0.133:0.3702:0.1348	.	334;334;482;482	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	E	482;482;334;334	ENSP00000287263:D482E;ENSP00000331342:D482E;ENSP00000430009:D334E;ENSP00000430680:D334E	ENSP00000287263:D482E	D	-	3	2	RAB11FIP1	37851367	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.109000	0.15417	-0.202000	0.10268	-0.152000	0.13540	GAC	RAB11FIP1	-	NULL	ENSG00000156675		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	-	0.00	69	0	G	NM_025151		37732209	-1	tier1	-	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	10.47	77	9	SNP	0.000	T
RAB15	376267	genome.wustl.edu	37	14	65438753	65438753	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:65438753G>A	ENST00000533601.2	-	1	379	c.42C>T	c.(40-42)atC>atT	p.I14I	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_Silent_p.I14I|FNTB_ENST00000542227.1_Intron|RAB15_ENST00000436278.2_5'Flank			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	14					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CGGAGTCCCCGATCAGCAGCA	0.692																																																	0													55.0	42.0	46.0					14																	65438753		2203	4299	6502	SO:0001819	synonymous_variant	0			BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.42C>T	14.37:g.65438753G>A			G5EMR7|Q86TX7|Q8IW89	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I14	ENST00000533601.2	37	c.42		14																																																																																			RAB15	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000139998		0.692	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	RAB15	HGNC	protein_coding	OTTHUMT00000390443.2	-	0.00	112	0	G	NM_198686		65438753	-1	tier1	-	no_errors	ENST00000533601	ensembl	human	known	74_37	silent	5.80	130	8	SNP	1.000	A
RAD51AP2	729475	genome.wustl.edu	37	2	17699568	17699568	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:17699568C>T	ENST00000399080.2	-	1	138	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	39										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCAGGCTCCTCAAGACAGAGC	0.602																																																	0													71.0	76.0	75.0					2																	17699568		1907	4116	6023	SO:0001583	missense	0			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.115G>A	2.37:g.17699568C>T	ENSP00000382030:p.Glu39Lys			Missense_Mutation	SNP	NULL	p.E39K	ENST00000399080.2	37	c.115	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	C	9.095	1.002703	0.19121	.	.	ENSG00000214842	ENST00000399080	T	0.34472	1.36	3.58	1.68	0.24146	.	.	.	.	.	T	0.16300	0.0392	N	0.11560	0.145	0.09310	N	1	B	0.25563	0.129	B	0.27608	0.081	T	0.31308	-0.9948	9	0.14252	T	0.57	-0.5824	4.4105	0.11431	0.0:0.6318:0.2347:0.1335	.	39	Q09MP3	R51A2_HUMAN	K	39	ENSP00000382030:E39K	ENSP00000382030:E39K	E	-	1	0	RAD51AP2	17563049	0.001000	0.12720	0.056000	0.19401	0.776000	0.43924	0.410000	0.21098	0.465000	0.27167	0.591000	0.81541	GAG	RAD51AP2	-	NULL	ENSG00000214842		0.602	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3		0.00	75	0	C	NM_001099218		17699568	-1			no_errors	ENST00000399080	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.061	T
RALGAPA1	253959	genome.wustl.edu	37	14	36277997	36277997	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:36277997C>G	ENST00000389698.3	-	1	435	c.45G>C	c.(43-45)caG>caC	p.Q15H	AL162311.1_ENST00000582013.1_RNA|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.Q15H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.Q15H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.Q15H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	15					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTAGCACCTTCTGGGTGGACT	0.657																																																	0													93.0	67.0	76.0					14																	36277997		2203	4298	6501	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.45G>C	14.37:g.36277997C>G	ENSP00000374348:p.Gln15His		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.Q15H	ENST00000389698.3	37	c.45	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684868	0.88639	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.83	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.82056	2.57	0.58432	D	0.999999	P;D;D;D	0.76494	0.616;0.996;0.999;0.998	B;D;D;D	0.85130	0.421;0.986;0.997;0.993	D	0.87491	0.2427	10	0.45353	T	0.12	-6.7017	13.1559	0.59516	0.0:0.9215:0.0:0.0785	.	15;15;15;15	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	H	15	ENSP00000374348:Q15H;ENSP00000302647:Q15H;ENSP00000258840:Q15H;ENSP00000371803:Q15H;ENSP00000451877:Q15H	ENSP00000258840:Q15H	Q	-	3	2	RALGAPA1	35347748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.470000	0.66756	1.393000	0.46605	0.563000	0.77884	CAG	RALGAPA1	-	NULL	ENSG00000174373		0.657	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	-	0.00	92	0	C	XM_210022		36277997	-1	tier1	-	no_errors	ENST00000258840	ensembl	human	known	74_37	missense	22.67	58	17	SNP	1.000	G
RB1	5925	genome.wustl.edu	37	13	48878083	48878085	+	In_Frame_Del	DEL	CCG	CCG	-	rs572454921	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	CCG	CCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr13:48878083_48878085delCCG	ENST00000267163.4	+	1	173_175	c.35_37delCCG	c.(34-39)accgcc>acc	p.A18del	LINC00441_ENST00000433480.2_lincRNA	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	18	Poly-Ala.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACGgccgccaccgccgccgctgc	0.764		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	16	Whole gene deletion(15)|Unknown(1)	bone(10)|breast(2)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)																																								SO:0001651	inframe_deletion	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.35_37delCCG	13.37:g.48878089_48878091delCCG	ENSP00000267163:p.Ala18del		A8K5E3|P78499|Q5VW46|Q8IZL4	In_Frame_Del	DEL	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A16in_frame_del	ENST00000267163.4	37	c.35_37	CCDS31973.1	13																																																																																			RB1	-	NULL	ENSG00000139687		0.764	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0.00	10	0	CCG			48878085	+1			no_errors	ENST00000267163	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.009:0.012:0.032	0
RBM11	54033	genome.wustl.edu	37	21	15588451	15588451	+	5'Flank	SNP	A	A	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr21:15588451A>G	ENST00000400577.3	+	0	0				RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11						cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GGCGCCGTAAAGCCGGAGAAG	0.711																																																	0																																										SO:0001631	upstream_gene_variant	0			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263		21.37:g.15588451A>G	Exception_encountered		Q6YNC2|Q8NBA1|Q8NFF6	RNA	SNP	-	NULL	ENST00000400577.3	37	NULL	CCDS46635.1	21																																																																																			RBM11	-	-	ENSG00000185272		0.711	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	HGNC	protein_coding	OTTHUMT00000157818.1	-	0.00	80	0	A	NM_144770		15588451	+1	tier1	-	no_errors	ENST00000468643	ensembl	human	known	74_37	rna	18.18	54	12	SNP	0.000	G
RBMX	27316	genome.wustl.edu	37	X	135956028	135956028	+	3'UTR	DEL	G	G	-	rs377294279		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chrX:135956028delG	ENST00000320676.7	-	0	1603				RBMX_ENST00000496459.2_5'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_3'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTGGCCTTTAGGGGATACTTT	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.*273C>-	X.37:g.135956028delG			B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	RNA	DEL	-	NULL	ENST00000320676.7	37	NULL	CCDS14661.1	X																																																																																			RBMX	-	-	ENSG00000147274		0.348	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1		0.00	18	0	G	NM_002139		135956028	-1	tier1		no_errors	ENST00000496459	ensembl	human	known	74_37	rna	17.24	24	5	DEL	1.000	-
RELN	5649	genome.wustl.edu	37	7	103155684	103155684	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:103155684G>A	ENST00000428762.1	-	50	8226	c.8067C>T	c.(8065-8067)gcC>gcT	p.A2689A	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.A2689A|RELN_ENST00000343529.5_Silent_p.A2689A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2689					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGACAGGGCCGGCATCTGCAG	0.527																																					NSCLC(146;835 1944 15585 22231 52158)												0													43.0	44.0	44.0					7																	103155684		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8067C>T	7.37:g.103155684G>A			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A2689	ENST00000428762.1	37	c.8067	CCDS47680.1	7																																																																																			RELN	-	superfamily_Sialidases	ENSG00000189056		0.527	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0.00	54	0	G	NM_005045		103155684	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	14.13	78	13	SNP	0.008	A
RIMS2	9699	genome.wustl.edu	37	8	105260958	105260958	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:105260958C>G	ENST00000436393.2	+	25	3801	c.3560C>G	c.(3559-3561)tCt>tGt	p.S1187C	RIMS2_ENST00000406091.3_Missense_Mutation_p.S1169C|RIMS2_ENST00000262231.10_Missense_Mutation_p.S1008C|RIMS2_ENST00000507740.1_Missense_Mutation_p.S983C|RIMS2_ENST00000339750.2_Missense_Mutation_p.S105C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1231					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCTTGGCCTCTGATAGCCAG	0.468										HNSCC(12;0.0054)																																							0													113.0	112.0	112.0					8																	105260958		2127	4265	6392	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3560C>G	8.37:g.105260958C>G	ENSP00000390665:p.Ser1187Cys		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S1169C	ENST00000436393.2	37	c.3506		8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146496	0.77888	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.19938	2.64;2.34;2.33;2.21;2.61;2.12;2.11	5.34	5.34	0.76211	.	.	.	.	.	T	0.27697	0.0681	L	0.29908	0.895	0.58432	D	0.999996	B;P;P;P;P	0.48407	0.41;0.8;0.514;0.8;0.91	B;P;B;B;B	0.49708	0.204;0.62;0.351;0.421;0.421	T	0.01805	-1.1270	9	0.87932	D	0	.	19.4079	0.94655	0.0:1.0:0.0:0.0	.	1231;1187;1008;983;1169	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	1206;1169;1231;1008;983;1176;1187;105;105	ENSP00000384892:S1169C;ENSP00000262231:S1008C;ENSP00000423559:S983C;ENSP00000386228:S1176C;ENSP00000390665:S1187C;ENSP00000428478:S105C;ENSP00000342051:S105C	ENSP00000262231:S1008C	S	+	2	0	RIMS2	105330134	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.959000	0.70339	2.664000	0.90586	0.650000	0.86243	TCT	RIMS2	-	NULL	ENSG00000176406		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0.00	65	0	C	NM_001100117		105260958	+1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	15.96	79	15	SNP	1.000	G
RNF167	26001	genome.wustl.edu	37	17	4846563	4846563	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:4846563C>T	ENST00000262482.6	+	7	1216	c.560C>T	c.(559-561)gCc>gTc	p.A187V	RNF167_ENST00000570492.1_Intron|RNF167_ENST00000572430.1_Missense_Mutation_p.A187V|RNF167_ENST00000575111.1_Missense_Mutation_p.A187V|RNF167_ENST00000576229.1_Missense_Mutation_p.A152V|RNF167_ENST00000571816.1_Missense_Mutation_p.A187V	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	187					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						CTGGTTTTGGCCATGGGAGCA	0.552																																																	0													83.0	72.0	75.0					17																	4846563		2203	4300	6503	SO:0001583	missense	0			AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.560C>T	17.37:g.4846563C>T	ENSP00000262482:p.Ala187Val		D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.A187V	ENST00000262482.6	37	c.560	CCDS11060.1	17	.	.	.	.	.	.	.	.	.	.	C	4.222	0.039981	0.08148	.	.	ENSG00000108523	ENST00000262482	T	0.03330	3.97	5.8	4.83	0.62350	.	0.056382	0.64402	D	0.000001	T	0.01523	0.0049	N	0.02181	-0.65	0.38650	D	0.95182	B	0.11235	0.004	B	0.12156	0.007	T	0.49409	-0.8943	10	0.11182	T	0.66	-1.1385	8.2764	0.31874	0.0:0.7594:0.1588:0.0818	.	187	Q9H6Y7	RN167_HUMAN	V	187	ENSP00000262482:A187V	ENSP00000262482:A187V	A	+	2	0	RNF167	4787308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.010000	0.57117	1.447000	0.47661	0.563000	0.77884	GCC	RNF167	-	NULL	ENSG00000108523		0.552	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF167	HGNC	protein_coding	OTTHUMT00000216854.3	-	0.00	86	0	C	NM_015528		4846563	+1	tier1	-	no_errors	ENST00000262482	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
RPF2	84154	genome.wustl.edu	37	6	111346663	111346663	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:111346663C>A	ENST00000441448.2	+	10	891	c.799C>A	c.(799-801)Cat>Aat	p.H267N		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	267						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H267Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TGGAAGGATTCATATGCAGAA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											84.0	88.0	87.0					6																	111346663		2203	4300	6503	SO:0001583	missense	0			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.799C>A	6.37:g.111346663C>A	ENSP00000402338:p.His267Asn		Q5VXN1|Q8N4A1	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.H267N	ENST00000441448.2	37	c.799	CCDS5088.1	6	.	.	.	.	.	.	.	.	.	.	c	29.1	4.981040	0.92982	.	.	ENSG00000197498	ENST00000441448	T	0.73152	-0.72	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90595	0.4540	10	0.87932	D	0	-22.562	20.0693	0.97712	0.0:1.0:0.0:0.0	.	267;267	A8K800;Q9H7B2	.;RPF2_HUMAN	N	267	ENSP00000402338:H267N	ENSP00000402338:H267N	H	+	1	0	RPF2	111453356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.256000	0.78350	2.758000	0.94735	0.563000	0.77884	CAT	RPF2	-	NULL	ENSG00000197498		0.363	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPF2	HGNC	protein_coding	OTTHUMT00000041813.2	-	0.00	50	0	C	NM_032194		111346663	+1	tier1	-	no_errors	ENST00000441448	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A
RPL3	6122	genome.wustl.edu	37	22	39714546	39714546	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:39714546G>C	ENST00000216146.4	-	2	228	c.55C>G	c.(55-57)Cgg>Ggg	p.R19G	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_5'UTR|SNORD43_ENST00000583861.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	19					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CTGCGCTTCCGAGGCAGGAAG	0.587																																																	0													21.0	20.0	21.0					22																	39714546		2199	4291	6490	SO:0001583	missense	0			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.55C>G	22.37:g.39714546G>C	ENSP00000346001:p.Arg19Gly		B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	p.R19G	ENST00000216146.4	37	c.55	CCDS13988.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.852493|4.852493	0.91355|0.91355	.|.	.|.	ENSG00000100316|ENSG00000100316	ENST00000216146;ENST00000453303|ENST00000427905	T;T|.	0.51817|.	0.69;0.69|.	4.17|4.17	4.17|4.17	0.49024|0.49024	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84474|0.84474	0.5480|0.5480	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	P;P|.	0.41597|.	0.756;0.465|.	B;B|.	0.40038|.	0.282;0.317|.	D|D	0.88746|0.88746	0.3247|0.3247	10|5	0.87932|.	D|.	0|.	.|.	16.6841|16.6841	0.85300|0.85300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	19;19|.	P39023;B3KS36|.	RL3_HUMAN;.|.	G|W	19;46|50	ENSP00000346001:R19G;ENSP00000415198:R46G|.	ENSP00000346001:R19G|.	R|S	-|-	1|2	2|0	RPL3|RPL3	38044492|38044492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	7.321000|7.321000	0.79088|0.79088	2.153000|2.153000	0.67306|0.67306	0.455000|0.455000	0.32223|0.32223	CGG|TCG	RPL3	-	superfamily_Transl_B-barrel	ENSG00000100316		0.587	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	-	0.00	116	0	G	NM_000967		39714546	-1	tier1	-	no_errors	ENST00000216146	ensembl	human	known	74_37	missense	6.16	137	9	SNP	1.000	C
RTN1	6252	genome.wustl.edu	37	14	60069967	60069967	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:60069967G>A	ENST00000267484.5	-	7	2527	c.2192C>T	c.(2191-2193)tCa>tTa	p.S731L	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Missense_Mutation_p.S148L|RTN1_ENST00000342503.4_Missense_Mutation_p.S163L	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	731	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGTAAACATTGAAACCACAGC	0.303																																																	0													55.0	54.0	54.0					14																	60069967		2203	4300	6503	SO:0001583	missense	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2192C>T	14.37:g.60069967G>A	ENSP00000267484:p.Ser731Leu		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.S731L	ENST00000267484.5	37	c.2192	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178610	0.78564	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.37235	1.21;1.21;1.21	6.02	6.02	0.97574	.	0.053861	0.85682	D	0.000000	T	0.52837	0.1759	L	0.31845	0.965	0.80722	D	1	P;D;B	0.76494	0.607;0.999;0.182	P;D;B	0.77557	0.686;0.99;0.138	T	0.48547	-0.9026	10	0.56958	D	0.05	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	148;731;163	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	L	311;731;148;163;657	ENSP00000267484:S731L;ENSP00000378525:S148L;ENSP00000340716:S163L	ENSP00000267484:S731L	S	-	2	0	RTN1	59139720	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.523000	0.73787	2.865000	0.98341	0.655000	0.94253	TCA	RTN1	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000139970		0.303	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	-	0.00	67	0	G			60069967	-1	tier1	-	no_errors	ENST00000267484	ensembl	human	known	74_37	missense	9.40	106	11	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	34064135	34064135	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:34064135C>G	ENST00000389232.4	+	63	8901	c.8831C>G	c.(8830-8832)tCa>tGa	p.S2944*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.S2944*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2944					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCATGAAGTCAGGCTCAGAG	0.448																																																	0													49.0	47.0	48.0					15																	34064135		1918	4144	6062	SO:0001587	stop_gained	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8831C>G	15.37:g.34064135C>G	ENSP00000373884:p.Ser2944*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S2944*	ENST00000389232.4	37	c.8831	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	51	17.847269	0.99894	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.64	5.64	0.86602	.	0.072889	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	.	.	.	X	2944	.	ENSP00000354735:S2944X	S	+	2	0	RYR3	31851427	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.892000	0.69790	2.937000	0.99478	0.650000	0.86243	TCA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	70	0	C			34064135	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	nonsense	11.39	70	9	SNP	1.000	G
SAT2	112483	genome.wustl.edu	37	17	7531071	7531071	+	5'UTR	DEL	G	G	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:7531071delG	ENST00000269298.5	-	0	102				SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000575903.1_5'Flank|SHBG_ENST00000441599.2_5'Flank|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000416273.3_5'Flank|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000380450.4_5'Flank|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron|SAT2_ENST00000573566.1_5'UTR	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2						nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	GGCGGGAGTCGGGGGGGACGG	0.672																																																	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001623	5_prime_UTR_variant	0			AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.-118C>-	17.37:g.7531071delG				RNA	DEL	-	NULL	ENST00000269298.5	37	NULL	CCDS11116.1	17																																																																																			SAT2	-	-	ENSG00000141504		0.672	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAT2	HGNC	protein_coding	OTTHUMT00000440078.1		0.00	45	0	G	NM_133491		7531071	-1	tier1		no_errors	ENST00000380466	ensembl	human	known	74_37	rna	9.09	40	4	DEL	0.000	-
SCUBE2	57758	genome.wustl.edu	37	11	9068959	9068959	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:9068959G>C	ENST00000309263.3	-	15	1931	c.1859C>G	c.(1858-1860)tCt>tGt	p.S620C	SCUBE2_ENST00000520467.1_Missense_Mutation_p.S649C|SCUBE2_ENST00000457346.2_Missense_Mutation_p.S649C|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.S494C			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	620						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTGGCGTTCAGATGTTCTGGG	0.562																																																	0													90.0	83.0	86.0					11																	9068959		2201	4296	6497	SO:0001583	missense	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1859C>G	11.37:g.9068959G>C	ENSP00000310658:p.Ser620Cys		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.S649C	ENST00000309263.3	37	c.1946		11	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024351	0.54683	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;D;D	0.84730	-1.33;-1.41;-1.89;-1.52	5.37	5.37	0.77165	.	0.232105	0.45361	D	0.000379	D	0.84831	0.5559	L	0.34521	1.04	0.21416	N	0.999698	D;B;P	0.67145	0.996;0.012;0.667	P;B;B	0.56216	0.794;0.038;0.375	T	0.77851	-0.2434	10	0.40728	T	0.16	.	13.4133	0.60954	0.0752:0.0:0.9248:0.0	.	494;649;620	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	C	649;620;494;649	ENSP00000390481:S649C;ENSP00000310658:S620C;ENSP00000415187:S494C;ENSP00000429969:S649C	ENSP00000310658:S620C	S	-	2	0	SCUBE2	9025535	0.148000	0.22702	0.164000	0.22755	0.930000	0.56654	2.772000	0.47678	2.516000	0.84829	0.655000	0.94253	TCT	SCUBE2	-	NULL	ENSG00000175356		0.562	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	-	0.00	70	0	G	NM_020974		9068959	-1	tier1	-	no_errors	ENST00000457346	ensembl	human	known	74_37	missense	19.18	59	14	SNP	0.151	C
SEC16A	9919	genome.wustl.edu	37	9	139342717	139342717	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:139342717G>A	ENST00000313084.5	-	1	577	c.315C>T	c.(313-315)ctC>ctT	p.L105L	SEC16A_ENST00000398335.1_Silent_p.L105L|SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000313050.7_Intron			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		tgaggccccagagtcgccaga	0.478																																																	0																																										SO:0001819	synonymous_variant	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313084.5:c.315C>T	9.37:g.139342717G>A			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.L105	ENST00000313084.5	37	c.315		9																																																																																			SEC16A	-	NULL	ENSG00000148396		0.478	SEC16A-002	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055078.1	-	0.00	94	0	G	XM_088459		139342717	-1	tier1	-	no_errors	ENST00000313084	ensembl	human	known	74_37	silent	19.51	66	16	SNP	0.000	A
SEC23IP	11196	genome.wustl.edu	37	10	121685688	121685688	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:121685688C>T	ENST00000369075.3	+	13	2334	c.2262C>T	c.(2260-2262)tgC>tgT	p.C754C	SEC23IP_ENST00000543134.1_Silent_p.C543C	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	754					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTGGTGCTTGCGTGTCTTCTG	0.448																																																	0													173.0	164.0	167.0					10																	121685688		2203	4300	6503	SO:0001819	synonymous_variant	0			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2262C>T	10.37:g.121685688C>T			D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.C754	ENST00000369075.3	37	c.2262	CCDS7618.1	10																																																																																			SEC23IP	-	NULL	ENSG00000107651		0.448	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	-	0.00	77	0	C			121685688	+1	tier1	-	no_errors	ENST00000369075	ensembl	human	known	74_37	silent	10.32	113	13	SNP	0.000	T
SEH1L	81929	genome.wustl.edu	37	18	12987007	12987007	+	3'UTR	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:12987007G>T	ENST00000262124.11	+	0	2966				SEH1L_ENST00000399892.2_Missense_Mutation_p.R406L|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|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)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCTCGCAGACGATATCTCTCT	0.478																																																	0													114.0	102.0	106.0					18																	12987007		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1756G>T	18.37:g.12987007G>T			A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	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.R406L	ENST00000262124.11	37	c.1217	CCDS45832.1	18	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016406	0.35606	.	.	ENSG00000085415	ENST00000399892	T	0.67865	-0.29	5.7	4.83	0.62350	.	0.473381	0.19498	N	0.112818	T	0.58264	0.2110	.	.	.	0.25752	N	0.985044	B	0.02656	0.0	B	0.04013	0.001	T	0.52660	-0.8546	9	0.48119	T	0.1	-0.2836	14.6747	0.68969	0.0696:0.0:0.9304:0.0	.	406	Q96EE3-1	.	L	406	ENSP00000382779:R406L	ENSP00000382779:R406L	R	+	2	0	SEH1L	12977007	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.093000	0.57714	1.418000	0.47098	0.557000	0.71058	CGA	SEH1L	-	NULL	ENSG00000085415		0.478	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	HGNC	protein_coding	OTTHUMT00000458254.1	-	0.00	50	0	G	NM_031216		12987007	+1	tier1	-	no_errors	ENST00000399892	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
SESN3	143686	genome.wustl.edu	37	11	94906420	94906420	+	Nonstop_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:94906420C>A	ENST00000536441.1	-	10	1814	c.1478G>T	c.(1477-1479)tGa>tTa	p.*493L	RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Nonstop_Mutation_p.*354L	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	0					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GGTGATACTTCAGGTCAAATG	0.353																																																	0													93.0	81.0	85.0					11																	94906420		2201	4298	6499	SO:0001578	stop_lost	0			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1478G>T	11.37:g.94906420C>A			B7Z7P9|Q96AD1	Nonstop_Mutation	SNP	pfam_PA26	p.*493L	ENST00000536441.1	37	c.1478	CCDS8303.1	11	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072259	0.20147	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1117	0.93318	0.0:1.0:0.0:0.0	.	.	.	.	L	493;354	.	.	X	-	2	2	SESN3	94546068	1.000000	0.71417	0.996000	0.52242	0.135000	0.20990	7.190000	0.77755	2.527000	0.85204	0.555000	0.69702	TGA	SESN3	-	NULL	ENSG00000149212		0.353	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN3	HGNC	protein_coding	OTTHUMT00000396475.3	-	0.00	49	0	C	NM_144665		94906420	-1	tier1	-	no_errors	ENST00000536441	ensembl	human	known	74_37	nonstop	12.24	43	6	SNP	1.000	A
SETD4	54093	genome.wustl.edu	37	21	37410456	37410456	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr21:37410456G>T	ENST00000399215.1	-	9	2552	c.1180C>A	c.(1180-1182)Ctt>Att	p.L394I	SETD4_ENST00000399212.1_Missense_Mutation_p.L370I|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.L394I|AP000688.1_ENST00000600312.1_Intron			Q9NVD3	SETD4_HUMAN	SET domain containing 4	394				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						ACCTTTTGAAGCACAGCATTA	0.348																																																	0													153.0	148.0	149.0					21																	37410456		2203	4300	6503	SO:0001583	missense	0			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1180C>A	21.37:g.37410456G>T	ENSP00000382163:p.Leu394Ile		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd	p.L394I	ENST00000399215.1	37	c.1180	CCDS13640.1	21	.	.	.	.	.	.	.	.	.	.	G	35	5.572869	0.96553	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.23754	1.89;1.89;1.89	5.79	5.79	0.91817	Rubisco LS methyltransferase, substrate-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.43360	-0.9396	10	0.27082	T	0.32	-25.5784	20.0212	0.97504	0.0:0.0:1.0:0.0	.	370;394	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	I	394;370;394	ENSP00000382163:L394I;ENSP00000382161:L370I;ENSP00000329189:L394I	ENSP00000329189:L394I	L	-	1	0	SETD4	36332326	1.000000	0.71417	0.794000	0.32065	0.606000	0.37113	6.376000	0.73141	2.735000	0.93741	0.561000	0.74099	CTT	SETD4	-	pfam_Rubisco_LSMT_subst-bd,pirsf_Lys_MTase_YDR198C_prd	ENSG00000185917		0.348	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD4	HGNC	protein_coding	OTTHUMT00000194456.1	-	0.00	85	0	G	NM_017438		37410456	-1	tier1	-	no_errors	ENST00000332131	ensembl	human	known	74_37	missense	5.08	112	6	SNP	0.996	T
SFI1	9814	genome.wustl.edu	37	22	32009828	32009828	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:32009828C>A	ENST00000400288.2	+	27	3088	c.2983C>A	c.(2983-2985)Cac>Aac	p.H995N	SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000540643.1_Missense_Mutation_p.H940N|SFI1_ENST00000432498.1_Missense_Mutation_p.H964N|SFI1_ENST00000400289.1_Missense_Mutation_p.H913N|SFI1_ENST00000443011.1_Missense_Mutation_p.H842N|SFI1_ENST00000443326.1_Missense_Mutation_p.H913N|SFI1_ENST00000414585.1_Missense_Mutation_p.H842N	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	995					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGAGGAGCCCCACGCCCTGGA	0.647											OREG0003527	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													17.0	20.0	19.0					22																	32009828		2082	4219	6301	SO:0001583	missense	0			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2983C>A	22.37:g.32009828C>A	ENSP00000383145:p.His995Asn	829	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	superfamily_Cyclin-like	p.H995N	ENST00000400288.2	37	c.2983	CCDS43004.1	22	.	.	.	.	.	.	.	.	.	.	C	8.054	0.766593	0.15983	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.13778	3.12;3.12;2.95;2.92;2.94;2.95;3.11;2.56	5.19	1.8	0.24995	.	1.867200	0.02177	N	0.060169	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	P;B;P;B;B	0.48294	0.491;0.372;0.908;0.306;0.372	B;B;B;B;B	0.42653	0.108;0.074;0.394;0.079;0.163	T	0.15838	-1.0423	10	0.27785	T	0.31	.	4.3935	0.11351	0.0:0.5252:0.1642:0.3106	.	940;901;913;964;995	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	N	964;940;913;744;842;842;913;995;578	ENSP00000402679:H964N;ENSP00000443025:H940N;ENSP00000416469:H913N;ENSP00000397148:H842N;ENSP00000401199:H842N;ENSP00000383146:H913N;ENSP00000383145:H995N;ENSP00000398871:H578N	ENSP00000383145:H995N	H	+	1	0	SFI1	30339828	0.000000	0.05858	0.042000	0.18584	0.010000	0.07245	0.193000	0.17116	0.495000	0.27882	0.462000	0.41574	CAC	SFI1	-	NULL	ENSG00000198089		0.647	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	-	0.00	116	0	C	NM_014775		32009828	+1	tier1	-	no_errors	ENST00000400288	ensembl	human	known	74_37	missense	11.36	78	10	SNP	0.007	A
SLC4A9	83697	genome.wustl.edu	37	5	139743751	139743751	+	Missense_Mutation	SNP	G	G	A	rs372321175		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:139743751G>A	ENST00000230993.6	+	10	1474	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	SLC4A9_ENST00000506757.2_Missense_Mutation_p.R456H|SLC4A9_ENST00000507527.1_Missense_Mutation_p.R480H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R456H|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R445H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	480	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTTTGAGCGCCTGCTCTTC	0.612																																																	0								G	HIS/ARG	1,3813		0,1,1906	46.0	46.0	46.0		1367	3.8	1.0	5		46	0,8284		0,0,4142	no	missense	SLC4A9	NM_031467.2	29	0,1,6048	AA,AG,GG		0.0,0.0262,0.0083	probably-damaging	456/960	139743751	1,12097	1907	4142	6049	SO:0001583	missense	0			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1439G>A	5.37:g.139743751G>A	ENSP00000230993:p.Arg480His		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R480H	ENST00000230993.6	37	c.1439	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245325	0.80024	2.62E-4	0.0	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.67	3.8	0.43715	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000010	D	0.86564	0.5963	M	0.74881	2.28	0.45307	D	0.998306	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.989;0.993;0.988;0.988	D	0.88072	0.2801	10	0.72032	D	0.01	.	13.4648	0.61247	0.0764:0.0:0.9236:0.0	.	456;480;445;456	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	H	480;456;445;456;480	ENSP00000230993:R480H;ENSP00000424424:R456H;ENSP00000410056:R445H;ENSP00000422855:R456H;ENSP00000427661:R480H	ENSP00000230993:R480H	R	+	2	0	SLC4A9	139723935	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.761000	0.47589	1.349000	0.45751	0.313000	0.20887	CGC	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000113073		0.612	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	-	0.00	78	0	G	NM_031467		139743751	+1	tier1	-	no_errors	ENST00000230993	ensembl	human	known	74_37	missense	21.33	59	16	SNP	1.000	A
SLC6A20	54716	genome.wustl.edu	37	3	45837804	45837804	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:45837804C>G	ENST00000358525.4	-	1	223	c.108G>C	c.(106-108)caG>caC	p.Q36H	SLC6A20_ENST00000353278.4_Missense_Mutation_p.Q36H|SLC6A20_ENST00000456124.2_Missense_Mutation_p.Q36H	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	36					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGCCGTACATCTGGCACAGGT	0.672																																																	0													45.0	33.0	37.0					3																	45837804		2203	4300	6503	SO:0001583	missense	0			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.108G>C	3.37:g.45837804C>G	ENSP00000346298:p.Gln36His		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.Q36H	ENST00000358525.4	37	c.108	CCDS43077.1	3	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244940	0.59103	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.05	3.14	0.36123	.	0.000000	0.64402	D	0.000002	T	0.78013	0.4217	L	0.41961	1.31	0.33381	D	0.574797	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80065	-0.1538	10	0.38643	T	0.18	.	9.0117	0.36146	0.0:0.8159:0.0:0.1841	.	36;36	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	H	36	ENSP00000296133:Q36H;ENSP00000346298:Q36H;ENSP00000404310:Q36H;ENSP00000395506:Q36H	ENSP00000296133:Q36H	Q	-	3	2	SLC6A20	45812808	0.979000	0.34478	1.000000	0.80357	0.886000	0.51366	0.227000	0.17795	1.970000	0.57323	0.313000	0.20887	CAG	SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000163817		0.672	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3	-	0.00	58	0	C	NM_020208		45837804	-1	tier1	-	no_errors	ENST00000358525	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	G
SLIT3	6586	genome.wustl.edu	37	5	168119628	168119628	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:168119628G>T	ENST00000519560.1	-	29	3579	c.3160C>A	c.(3160-3162)Ctg>Atg	p.L1054M	SLIT3_ENST00000332966.8_Missense_Mutation_p.L1061M|SLIT3_ENST00000404867.3_Missense_Mutation_p.L1054M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1054	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTTGTCCAGGGGGATGCAC	0.547																																					Ovarian(29;311 847 10864 17279 24903)												0													110.0	84.0	93.0					5																	168119628		2203	4300	6503	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3160C>A	5.37:g.168119628G>T	ENSP00000430333:p.Leu1054Met		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1054M	ENST00000519560.1	37	c.3160	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845196	0.51164	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.93019	-3.15;-3.15;-3.15	5.0	4.06	0.47325	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.293891	0.33691	N	0.004641	D	0.90515	0.7028	L	0.58428	1.81	0.42859	D	0.994104	B	0.21905	0.062	B	0.29176	0.099	D	0.86432	0.1761	10	0.30078	T	0.28	.	9.2904	0.37782	0.0:0.1568:0.6812:0.162	.	1054	O75094	SLIT3_HUMAN	M	1054;1061;1054	ENSP00000430333:L1054M;ENSP00000332164:L1061M;ENSP00000384890:L1054M	ENSP00000332164:L1061M	L	-	1	2	SLIT3	168052206	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.043000	0.13971	2.320000	0.78422	0.650000	0.86243	CTG	SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.547	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0.00	61	0	G	NM_003062		168119628	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.998	T
SMARCA2	6595	genome.wustl.edu	37	9	2161902	2161902	+	Splice_Site	SNP	A	A	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:2161902A>G	ENST00000382203.1	+	28	4407	c.4198A>G	c.(4198-4200)Agg>Ggg	p.R1400G	SMARCA2_ENST00000357248.2_Splice_Site_p.S1400G|SMARCA2_ENST00000382185.1_Splice_Site_p.S64G|SMARCA2_ENST00000382186.1_Splice_Site_p.R64G|RNU2-25P_ENST00000411041.1_RNA|SMARCA2_ENST00000349721.2_Splice_Site_p.R1400G|SMARCA2_ENST00000324954.5_Splice_Site_p.S64G|SMARCA2_ENST00000382194.1_Splice_Site_p.S1400G|SMARCA2_ENST00000302401.3_Splice_Site_p.S106G			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1400				R -> S (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTACAAAGATAGGTGAGTGTT	0.488																																																	0													47.0	44.0	45.0					9																	2161902		2203	4300	6503	SO:0001630	splice_region_variant	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4199+1A>G	9.37:g.2161902A>G			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R1400G	ENST00000382203.1	37	c.4198	CCDS34977.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.37|13.37	2.216027|2.216027	0.39201|0.39201	.|.	.|.	ENSG00000080503|ENSG00000080503	ENST00000349721;ENST00000382203;ENST00000452193;ENST00000382186|ENST00000357248;ENST00000382194;ENST00000302401;ENST00000324954;ENST00000423555;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000416751	T;T;T;T|T;T;T;T;T;T;T;T;T	0.32753|0.30448	1.44;1.44;1.44;1.44|1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.1|5.1	5.1|5.1	0.69264|0.69264	Bromodomain (3);|.	0.153741|.	0.44285|.	D|.	0.000469|.	T|T	0.12732|0.12732	0.0309|0.0309	N|N	0.01352|0.01352	-0.895|-0.895	0.48087|0.48087	D|D	0.999587|0.999587	P|B;B;B	0.34662|0.12013	0.462|0.005;0.005;0.0	B|B;B;B	0.32762|0.13407	0.152|0.009;0.009;0.0	T|T	0.12785|0.12785	-1.0534|-1.0534	9|9	.|0.26408	.|T	.|0.33	-15.9111|-15.9111	14.8818|14.8818	0.70540|0.70540	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1400|104;106;1400	P51531|B4DNT1;B1ALF6;P51531-2	SMCA2_HUMAN|.;.;.	G|G	1400;1400;64;64|1400;1400;106;64;104;104;64;64;64	ENSP00000265773:R1400G;ENSP00000371638:R1400G;ENSP00000401096:R64G;ENSP00000371621:R64G|ENSP00000349788:S1400G;ENSP00000371629:S1400G;ENSP00000305411:S106G;ENSP00000324770:S64G;ENSP00000413057:S104G;ENSP00000387486:S104G;ENSP00000371620:S64G;ENSP00000371618:S64G;ENSP00000412242:S64G	.|ENSP00000305411:S106G	R|S	+|+	1|1	2|0	SMARCA2|SMARCA2	2151902|2151902	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.746000|0.746000	0.42486|0.42486	5.843000|5.843000	0.69424|0.69424	1.923000|1.923000	0.55706|0.55706	0.397000|0.397000	0.26171|0.26171	AGG|AGT	SMARCA2	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000080503		0.488	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	-	0.00	61	0	A	NM_003070	Missense_Mutation	2161902	+1	tier1	-	no_errors	ENST00000349721	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	G
SMG5	23381	genome.wustl.edu	37	1	156231134	156231134	+	Silent	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:156231134G>T	ENST00000361813.5	-	14	2241	c.2097C>A	c.(2095-2097)ctC>ctA	p.L699L	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	699					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAGACTCCTGGAGTTCACCAG	0.572																																																	0													103.0	96.0	98.0					1																	156231134		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2097C>A	1.37:g.156231134G>T			D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	pfam_EST1,smart_PIN_dom	p.L699	ENST00000361813.5	37	c.2097	CCDS1137.1	1																																																																																			SMG5	-	NULL	ENSG00000198952		0.572	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1		0.00	76	0	G	NM_015327		156231134	-1			no_errors	ENST00000361813	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.978	T
SPPL3	121665	genome.wustl.edu	37	12	121205249	121205249	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:121205249C>T	ENST00000353487.2	-	9	1424	c.921G>A	c.(919-921)ggG>ggA	p.G307G		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	308						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCATGCGCCCGGAGATGT	0.542																																																	0													66.0	66.0	66.0					12																	121205249		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.921G>A	12.37:g.121205249C>T			Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.G307	ENST00000353487.2	37	c.921	CCDS9208.1	12																																																																																			SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000157837		0.542	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	-	0.00	139	0	C	NM_139015		121205249	-1	tier1	-	no_errors	ENST00000353487	ensembl	human	known	74_37	silent	7.69	96	8	SNP	0.655	T
SSPO	23145	genome.wustl.edu	37	7	149477372	149477372	+	RNA	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr7:149477372C>T	ENST00000378016.2	+	0	1443							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGTCTCCCTCTGCCCACCCA	0.662																																																	0													28.0	35.0	32.0					7																	149477372		2031	4166	6197			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477372C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.662	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0.00	52	0	C			149477372	+1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	16.33	41	8	SNP	1.000	T
SSSCA1	10534	genome.wustl.edu	37	11	65338969	65338969	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:65338969C>G	ENST00000309328.3	+	4	426	c.364C>G	c.(364-366)Ccg>Gcg	p.P122A	FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_Missense_Mutation_p.P85A|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000527920.1_Intron|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000530349.1_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	122	Pro-rich.				mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AGTACCTCGTCCGGAGCACTG	0.667																																																	0													59.0	61.0	61.0					11																	65338969		2201	4296	6497	SO:0001583	missense	0			AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.364C>G	11.37:g.65338969C>G	ENSP00000312318:p.Pro122Ala			Missense_Mutation	SNP	pfam_SSSCA1	p.P122A	ENST00000309328.3	37	c.364	CCDS8104.1	11	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531021	0.45073	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000533115	T;T	0.51574	0.7;0.71	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	M	0.64997	1.995	0.80722	D	1	P	0.43392	0.805	B	0.38500	0.275	T	0.32955	-0.9887	10	0.21014	T	0.42	-1.0636	13.5309	0.61621	0.0:1.0:0.0:0.0	.	122	O60232	SSA27_HUMAN	A	122;85;116	ENSP00000312318:P122A;ENSP00000435432:P116A	ENSP00000312318:P122A	P	+	1	0	SSSCA1	65095545	0.998000	0.40836	0.557000	0.28306	0.864000	0.49448	6.358000	0.73055	2.564000	0.86499	0.655000	0.94253	CCG	SSSCA1	-	NULL	ENSG00000173465		0.667	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSSCA1	HGNC	protein_coding	OTTHUMT00000389511.1	-	0.00	49	0	C	NM_006396		65338969	+1	tier1	-	no_errors	ENST00000309328	ensembl	human	known	74_37	missense	34.09	29	15	SNP	0.995	G
SSSCA1	10534	genome.wustl.edu	37	11	65339076	65339076	+	Silent	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:65339076C>G	ENST00000309328.3	+	4	533	c.471C>G	c.(469-471)ctC>ctG	p.L157L	FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_Silent_p.L120L|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000527920.1_Intron|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000530349.1_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	157					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AGACAGCCCTCTTGCAGAAGC	0.617																																																	0													77.0	62.0	67.0					11																	65339076		2201	4297	6498	SO:0001819	synonymous_variant	0			AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.471C>G	11.37:g.65339076C>G				Silent	SNP	pfam_SSSCA1	p.L157	ENST00000309328.3	37	c.471	CCDS8104.1	11																																																																																			SSSCA1	-	NULL	ENSG00000173465		0.617	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSSCA1	HGNC	protein_coding	OTTHUMT00000389511.1	-	0.00	77	0	C	NM_006396		65339076	+1	tier1	-	no_errors	ENST00000309328	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.977	G
STK11	6794	genome.wustl.edu	37	19	1226530	1226530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:1226530G>T	ENST00000326873.7	+	9	2359	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	396					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACGGCACAGAGGCGGCGCA	0.692		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	21	Whole gene deletion(20)|Unknown(1)	cervix(14)|lung(2)|oesophagus(1)|breast(1)|ovary(1)|kidney(1)|pancreas(1)											13.0	17.0	15.0					19																	1226530		1969	4111	6080	SO:0001587	stop_gained	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.1186G>T	19.37:g.1226530G>T	ENSP00000324856:p.Glu396*		B2RBX7|E7EW76	Nonsense_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.E396*	ENST00000326873.7	37	c.1186	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	.	46	12.239283	0.99649	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	4.32	2.09	0.27110	.	0.174032	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-41.2439	11.8097	0.52175	0.0:0.3412:0.6588:0.0	.	.	.	.	X	396	.	ENSP00000324856:E396X	E	+	1	0	STK11	1177530	1.000000	0.71417	0.011000	0.14972	0.424000	0.31475	8.757000	0.91657	0.537000	0.28751	0.561000	0.74099	GAG	STK11	-	NULL	ENSG00000118046		0.692	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	-	0.00	70	0	G	NM_000455		1226530	+1	tier1	-	no_errors	ENST00000326873	ensembl	human	known	74_37	nonsense	8.11	68	6	SNP	0.749	T
STX16	8675	genome.wustl.edu	37	20	57242559	57242559	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:57242559G>A	ENST00000371141.4	+	3	882	c.158G>A	c.(157-159)cGt>cAt	p.R53H	STX16_ENST00000355957.5_Missense_Mutation_p.R36H|STX16_ENST00000361770.5_Missense_Mutation_p.R36H|STX16_ENST00000358029.4_Missense_Mutation_p.R49H|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R53H|STX16_ENST00000361830.3_Missense_Mutation_p.R53H|STX16_ENST00000359617.4_5'UTR|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000371132.4_Missense_Mutation_p.R32H	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	53					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GCTGATGACCGTATGGCACTG	0.423																																																	0													122.0	112.0	115.0					20																	57242559		2203	4300	6503	SO:0001583	missense	0			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.158G>A	20.37:g.57242559G>A	ENSP00000360183:p.Arg53His		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R53H	ENST00000371141.4	37	c.158	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.198196	0.94997	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000371141;ENST00000371132;ENST00000358029;ENST00000361830	T;T;T;T;T;T	0.54279	0.62;0.58;0.72;0.61;0.68;0.72	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	T	0.71567	0.3355	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.71870	0.917;0.975;0.967;0.972	T	0.72944	-0.4138	10	0.62326	D	0.03	.	18.5539	0.91075	0.0:0.0:1.0:0.0	.	49;36;32;53	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	H	36;36;53;32;49;53	ENSP00000348229:R36H;ENSP00000355408:R36H;ENSP00000360183:R53H;ENSP00000360173:R32H;ENSP00000350723:R49H;ENSP00000354445:R53H	ENSP00000432101:R53H	R	+	2	0	STX16	56675965	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	9.476000	0.97823	2.630000	0.89119	0.591000	0.81541	CGT	STX16-NPEPL1	-	NULL	ENSG00000254995		0.423	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16-NPEPL1	HGNC	protein_coding	OTTHUMT00000080517.2	-	0.00	36	0	G	NM_001001433		57242559	+1	tier1	-	no_errors	ENST00000530122	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A
SUSD2	56241	genome.wustl.edu	37	22	24583631	24583631	+	Missense_Mutation	SNP	G	G	C	rs372525863		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr22:24583631G>C	ENST00000358321.3	+	12	2245	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	662	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCCCACCTTCGAGCCCCTCTT	0.577																																																	0													141.0	124.0	130.0					22																	24583631		2203	4300	6503	SO:0001583	missense	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1984G>C	22.37:g.24583631G>C	ENSP00000351075:p.Glu662Gln		Q9H5Y6	Missense_Mutation	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.E662Q	ENST00000358321.3	37	c.1984	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	g	7.192	0.591716	0.13812	.	.	ENSG00000099994	ENST00000358321	T	0.20069	2.1	4.52	-5.93	0.02254	von Willebrand factor, type D domain (1);	1.129380	0.06453	N	0.728071	T	0.05318	0.0141	N	0.01048	-1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41215	-0.9521	10	0.13470	T	0.59	-3.1022	7.5143	0.27592	0.4208:0.355:0.2242:0.0	.	662	Q9UGT4	SUSD2_HUMAN	Q	662	ENSP00000351075:E662Q	ENSP00000351075:E662Q	E	+	1	0	SUSD2	22913631	0.003000	0.15002	0.003000	0.11579	0.842000	0.47809	0.019000	0.13444	-1.218000	0.02601	-0.292000	0.09595	GAG	SUSD2	-	NULL	ENSG00000099994		0.577	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	-	0.00	49	0	G	NM_019601		24583631	+1	tier1	-	no_errors	ENST00000358321	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.305	C
SWAP70	23075	genome.wustl.edu	37	11	9759811	9759811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:9759811C>T	ENST00000318950.6	+	8	1235	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	SWAP70_ENST00000447399.2_Nonsense_Mutation_p.Q320*	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	378					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAACGCCTTCAGACTCAAGT	0.493																																																	0													69.0	66.0	67.0					11																	9759811		2201	4294	6495	SO:0001587	stop_gained	0			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1132C>T	11.37:g.9759811C>T	ENSP00000315630:p.Gln378*		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology	p.Q378*	ENST00000318950.6	37	c.1132	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491676	0.84962	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	.	.	.	5.27	4.35	0.52113	.	0.222267	0.48286	D	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-17.6036	13.519	0.61557	0.0:0.7011:0.2989:0.0	.	.	.	.	X	320;378	.	ENSP00000315630:Q378X	Q	+	1	0	SWAP70	9716387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.250000	0.32850	1.326000	0.45319	0.585000	0.79938	CAG	SWAP70	-	NULL	ENSG00000133789		0.493	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2	-	0.00	38	0	C	NM_015055		9759811	+1	tier1	-	no_errors	ENST00000318950	ensembl	human	known	74_37	nonsense	28.57	20	8	SNP	1.000	T
SYDE2	84144	genome.wustl.edu	37	1	85624705	85624705	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:85624705C>G	ENST00000341460.5	-	7	3362	c.3313G>C	c.(3313-3315)Gaa>Caa	p.E1105Q		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1105					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTTAAATTTTCTTTTGTATTT	0.373																																																	0													78.0	76.0	77.0					1																	85624705		1827	4080	5907	SO:0001583	missense	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3313G>C	1.37:g.85624705C>G	ENSP00000340594:p.Glu1105Gln		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E1105Q	ENST00000341460.5	37	c.3313	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100444	0.56183	.	.	ENSG00000097096	ENST00000341460	T	0.44482	0.92	6.17	6.17	0.99709	.	0.415468	0.29113	N	0.013116	T	0.34745	0.0908	L	0.57536	1.79	0.27175	N	0.960808	P	0.40083	0.702	B	0.39971	0.315	T	0.35871	-0.9771	10	0.54805	T	0.06	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1105	Q5VT97	SYDE2_HUMAN	Q	1105	ENSP00000340594:E1105Q	ENSP00000340594:E1105Q	E	-	1	0	SYDE2	85397293	0.966000	0.33281	1.000000	0.80357	0.989000	0.77384	3.359000	0.52292	2.941000	0.99782	0.655000	0.94253	GAA	SYDE2	-	NULL	ENSG00000097096		0.373	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	-	0.00	64	0	C			85624705	-1	tier1	-	no_errors	ENST00000341460	ensembl	human	known	74_37	missense	19.79	77	19	SNP	0.998	G
TADA2B	93624	genome.wustl.edu	37	4	7056573	7056573	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr4:7056573C>G	ENST00000310074.7	+	2	1244	c.1055C>G	c.(1054-1056)tCa>tGa	p.S352*	TADA2B_ENST00000512388.1_Nonsense_Mutation_p.S277*|TADA2B_ENST00000515646.1_Nonsense_Mutation_p.S260*	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	352					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGCTCCTGTCAGATCGCGAG	0.522																																																	0													67.0	73.0	71.0					4																	7056573		1961	4145	6106	SO:0001587	stop_gained	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1055C>G	4.37:g.7056573C>G	ENSP00000308022:p.Ser352*		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Nonsense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.S352*	ENST00000310074.7	37	c.1055	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.863921	0.99702	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.0973	18.2471	0.89989	0.0:1.0:0.0:0.0	.	.	.	.	X	352;277;260	.	ENSP00000308022:S352X	S	+	2	0	TADA2B	7107474	1.000000	0.71417	0.727000	0.30756	0.335000	0.28730	7.305000	0.78891	2.307000	0.77673	0.561000	0.74099	TCA	TADA2B	-	superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.522	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0.00	73	0	C	NM_152293		7056573	+1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	nonsense	7.58	61	5	SNP	1.000	G
TAP1	6890	genome.wustl.edu	37	6	32813308	32813308	+	3'UTR	SNP	G	G	T	rs575397236		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:32813308G>T	ENST00000354258.4	-	0	2636				PSMB9_ENST00000395330.1_Intron|PSMB8_ENST00000374881.2_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000374882.3_5'Flank|PSMB8_ENST00000395339.3_5'Flank|TAP1_ENST00000425148.2_3'UTR	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)						antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CTCCACCACAGAGAGAAGAAA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20993	0.0		0.0	False		,,,				2504	0.0																0													27.0	26.0	26.0					6																	32813308		1511	2707	4218	SO:0001624	3_prime_UTR_variant	0				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.*48C>A	6.37:g.32813308G>T			Q16149|Q96CP4	RNA	SNP	-	NULL	ENST00000354258.4	37	NULL	CCDS4758.1	6																																																																																			TAPSAR1	-	-	ENSG00000204261		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPSAR1	HGNC	protein_coding	OTTHUMT00000076087.2	-	0.00	61	0	G	NM_000593		32813308	+1	tier1	-	no_errors	ENST00000412095	ensembl	human	known	74_37	rna	5.26	72	4	SNP	0.000	T
TAS1R1	80835	genome.wustl.edu	37	1	6634734	6634734	+	Missense_Mutation	SNP	A	A	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:6634734A>T	ENST00000333172.6	+	3	735	c.542A>T	c.(541-543)cAg>cTg	p.Q181L	TAS1R1_ENST00000328191.4_Missense_Mutation_p.Q181L|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	181					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|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;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTGAAGCGGCAGTATCCCTCT	0.587																																																	0													91.0	86.0	87.0					1																	6634734		2203	4300	6503	SO:0001583	missense	0				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.542A>T	1.37:g.6634734A>T	ENSP00000331867:p.Gln181Leu		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	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.Q181L	ENST00000333172.6	37	c.542	CCDS81.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.288|2.288	-0.363059|-0.363059	0.05103|0.05103	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000333172;ENST00000328191|ENST00000411823	D;D|.	0.83419|.	-1.72;-1.72|.	5.12|5.12	-0.386|-0.386	0.12466|0.12466	Extracellular ligand-binding receptor (1);|.	1.284890|.	0.05021|.	N|.	0.472795|.	T|T	0.20455|0.20455	0.0492|0.0492	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.29671|0.29671	-1.0004|-1.0004	10|5	0.09338|.	T|.	0.73|.	.|.	7.0837|7.0837	0.25245|0.25245	0.3069:0.0:0.0759:0.6172|0.3069:0.0:0.0759:0.6172	.|.	181;181|.	Q7RTX1-3;Q7RTX1|.	.;TS1R1_HUMAN|.	L|C	181|107	ENSP00000331867:Q181L;ENSP00000327705:Q181L|.	ENSP00000327705:Q181L|.	Q|S	+|+	2|1	0|0	TAS1R1|TAS1R1	6557321|6557321	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.800000|0.800000	0.45204|0.45204	0.448000|0.448000	0.21726|0.21726	-0.376000|-0.376000	0.07943|0.07943	0.459000|0.459000	0.35465|0.35465	CAG|AGT	TAS1R1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000173662		0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	-	0.00	60	0	A			6634734	+1	tier1	-	no_errors	ENST00000333172	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.015	T
TEFM	79736	genome.wustl.edu	37	17	29231387	29231387	+	Silent	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:29231387G>C	ENST00000581216.1	-	2	813	c.192C>G	c.(190-192)ctC>ctG	p.L64L	TEFM_ENST00000580840.1_Silent_p.L64L	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	64					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										CTGAAGAGAAGAGCTTGTCAA	0.413																																																	0													74.0	71.0	72.0					17																	29231387		1858	4102	5960	SO:0001819	synonymous_variant	0				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.192C>G	17.37:g.29231387G>C			E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	superfamily_RNaseH-like_dom	p.L64	ENST00000581216.1	37	c.192	CCDS42291.1	17																																																																																			TEFM	-	NULL	ENSG00000172171		0.413	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	-	0.00	57	0	G	NM_024683		29231387	-1	tier1	-	no_errors	ENST00000581216	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.984	C
TEK	7010	genome.wustl.edu	37	9	27212803	27212803	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:27212803G>A	ENST00000380036.4	+	17	3227	c.2785G>A	c.(2785-2787)Gcc>Acc	p.A929T	TEK_ENST00000519097.1_Missense_Mutation_p.A781T|TEK_ENST00000406359.4_Missense_Mutation_p.A886T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	929	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ATTTGCCATTGCCAATAGCAC	0.582																																																	0													98.0	77.0	84.0					9																	27212803		2203	4300	6503	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2785G>A	9.37:g.27212803G>A	ENSP00000369375:p.Ala929Thr		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A929T	ENST00000380036.4	37	c.2785	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078393	0.76528	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69040	-0.37;-0.37;-0.37	5.46	4.54	0.55810	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000101	T	0.67477	0.2897	N	0.11313	0.125	0.58432	D	0.999997	P;P;D	0.89917	0.811;0.944;1.0	B;P;D	0.81914	0.316;0.554;0.995	T	0.73566	-0.3942	10	0.49607	T	0.09	.	16.3432	0.83101	0.0:0.1323:0.8676:0.0	.	781;962;929	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	T	781;929;886	ENSP00000430686:A781T;ENSP00000369375:A929T;ENSP00000383977:A886T	ENSP00000369375:A929T	A	+	1	0	TEK	27202803	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	9.738000	0.98835	1.399000	0.46721	0.655000	0.94253	GCC	TEK	-	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	ENSG00000120156		0.582	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0.00	59	0	G			27212803	+1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A
TESPA1	9840	genome.wustl.edu	37	12	55360994	55360994	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:55360994C>T	ENST00000449076.1	-	5	415	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.E95K|TESPA1_ENST00000532804.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	95					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											AAGTCATCTTCAAAGCTGGTC	0.483																																																	0													65.0	64.0	65.0					12																	55360994		1966	4156	6122	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.283G>A	12.37:g.55360994C>T	ENSP00000400892:p.Glu95Lys		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.E95K	ENST00000449076.1	37	c.283	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534096	0.85812	.	.	ENSG00000135426	ENST00000449076;ENST00000316577	T;T	0.60548	0.18;0.18	4.85	4.85	0.62838	.	.	.	.	.	T	0.55289	0.1911	L	0.47190	1.495	0.80722	D	1	P	0.40534	0.72	B	0.41202	0.35	T	0.62539	-0.6833	9	0.87932	D	0	.	15.8382	0.78814	0.0:1.0:0.0:0.0	.	95	A2RU30	K0748_HUMAN	K	95	ENSP00000400892:E95K;ENSP00000312679:E95K	ENSP00000312679:E95K	E	-	1	0	KIAA0748	53647261	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.993000	0.70616	2.415000	0.81967	0.585000	0.79938	GAA	TESPA1	-	NULL	ENSG00000135426		0.483	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1		0.00	58	0	C	NM_001098815		55360994	-1			no_errors	ENST00000316577	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
THADA	63892	genome.wustl.edu	37	2	43514140	43514140	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:43514140C>T	ENST00000405006.4	-	35	5422	c.5071G>A	c.(5071-5073)Gaa>Aaa	p.E1691K	THADA_ENST00000405975.2_Missense_Mutation_p.E1691K|THADA_ENST00000415080.2_Missense_Mutation_p.E1372K|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1691										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGATGGTCTTCACATGACAAG	0.468																																																	0													85.0	85.0	85.0					2																	43514140		1997	4185	6182	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5071G>A	2.37:g.43514140C>T	ENSP00000385995:p.Glu1691Lys		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.E1691K	ENST00000405006.4	37	c.5071	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988369	0.35036	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	T;T;T	0.67865	-0.29;-0.29;-0.29	5.78	2.93	0.34026	.	0.553691	0.17977	N	0.155643	T	0.41719	0.1171	N	0.14661	0.345	0.20975	N	0.999819	B;B	0.25007	0.116;0.049	B;B	0.26202	0.067;0.026	T	0.26258	-1.0108	10	0.07030	T	0.85	.	7.364	0.26762	0.0:0.7146:0.1506:0.1348	.	1618;1691	B6ZDQ0;Q6YHU6	.;THADA_HUMAN	K	1691;1618;1372;1691	ENSP00000386088:E1691K;ENSP00000416048:E1372K;ENSP00000385995:E1691K	ENSP00000349464:E1618K	E	-	1	0	THADA	43367644	0.990000	0.36364	0.974000	0.42286	0.713000	0.41058	0.892000	0.28322	1.405000	0.46838	0.655000	0.94253	GAA	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.468	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	-	0.00	61	0	C	NM_022065		43514140	-1	tier1	-	no_errors	ENST00000405006	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.964	T
THBS1	7057	genome.wustl.edu	37	15	39874123	39874123	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:39874123C>T	ENST00000260356.5	+	2	230	c.65C>T	c.(64-66)cCa>cTa	p.P22L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	22					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		AACCGCATTCCAGGTGAGTTT	0.607											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													121.0	100.0	107.0					15																	39874123		2200	4297	6497	SO:0001583	missense	0				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.65C>T	15.37:g.39874123C>T	ENSP00000260356:p.Pro22Leu	889	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.P22L	ENST00000260356.5	37	c.65	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396407	0.62177	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.76186	-1.0;0.99	4.94	4.94	0.65067	.	0.000000	0.34362	N	0.004027	T	0.59115	0.2170	N	0.14661	0.345	0.48632	D	0.999689	B	0.13594	0.008	B	0.14578	0.011	T	0.57797	-0.7749	10	0.52906	T	0.07	-6.745	13.5044	0.61476	0.0:1.0:0.0:0.0	.	22	P07996	TSP1_HUMAN	L	22	ENSP00000260356:P22L;ENSP00000380720:P22L	ENSP00000260356:P22L	P	+	2	0	THBS1	37661415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.407000	0.44565	2.559000	0.86315	0.591000	0.81541	CCA	THBS1	-	NULL	ENSG00000137801		0.607	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	-	0.00	28	0	C	NM_003246		39874123	+1	tier1	-	no_errors	ENST00000260356	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
THEMIS2	9473	genome.wustl.edu	37	1	28211701	28211701	+	Intron	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:28211701G>C	ENST00000373921.3	+	5	1723				THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2						cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAGGAAGTAGAGAGAGAAGC	0.448																																																	0																																										SO:0001627	intron_variant	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1720-105G>C	1.37:g.28211701G>C			A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	RNA	SNP	-	NULL	ENST00000373921.3	37	NULL	CCDS41290.1	1																																																																																			THEMIS2	-	-	ENSG00000130775		0.448	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	-	0.00	34	0	G	NM_004848		28211701	+1	tier1	-	no_errors	ENST00000492877	ensembl	human	known	74_37	rna	13.95	37	6	SNP	0.004	C
THRA	7067	genome.wustl.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																																	2	Substitution - Missense(2)	kidney(2)											145.0	129.0	134.0					17																	38240101		2203	4300	6503	SO:0001583	missense	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R79H	ENST00000264637.4	37	c.236	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC	THRA	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Znf_hrmn_rcpt	ENSG00000126351		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2		0.00	58	0	G			38240101	+1			no_errors	ENST00000264637	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A
TMEM132C	92293	genome.wustl.edu	37	12	129178490	129178490	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:129178490G>C	ENST00000435159.2	+	6	1566	c.1566G>C	c.(1564-1566)tgG>tgC	p.W522C	TMEM132C_ENST00000537538.1_5'UTR|TMEM132C_ENST00000315208.8_Missense_Mutation_p.W138C	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	522						integral component of membrane (GO:0016021)		p.W138*(3)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TCACCGTGTGGGTGCCCCGGC	0.562																																																	3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)											41.0	39.0	40.0					12																	129178490		692	1591	2283	SO:0001583	missense	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1566G>C	12.37:g.129178490G>C	ENSP00000410852:p.Trp522Cys		Q69YX8	Missense_Mutation	SNP	NULL	p.W522C	ENST00000435159.2	37	c.1566		12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402020	0.83120	.	.	ENSG00000181234	ENST00000435159;ENST00000315208	T;T	0.28666	1.6;1.6	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000014	T	0.63873	0.2548	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72659	-0.4226	10	0.87932	D	0	.	18.3146	0.90215	0.0:0.0:1.0:0.0	.	522	Q8N3T6	T132C_HUMAN	C	522;138	ENSP00000410852:W522C;ENSP00000324458:W138C	ENSP00000324458:W138C	W	+	3	0	TMEM132C	127744443	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.510000	0.98004	2.318000	0.78349	0.467000	0.42956	TGG	TMEM132C	-	NULL	ENSG00000181234		0.562	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		-	0.00	62	0	G	XM_044062		129178490	+1	tier1	-	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	C
TMEM134	80194	genome.wustl.edu	37	11	67232074	67232074	+	3'UTR	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:67232074C>G	ENST00000308022.2	-	0	640				TMEM134_ENST00000393877.3_3'UTR|TMEM134_ENST00000541059.1_5'UTR|CTC-1337H24.2_ENST00000602944.1_lincRNA	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134							integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GGGGTCCACGCTGCGCCGCGA	0.637																																																	0													23.0	30.0	28.0					11																	67232074		2056	4065	6121	SO:0001624	3_prime_UTR_variant	0			AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.*11G>C	11.37:g.67232074C>G			Q08AK4|Q6PJN3	RNA	SNP	-	NULL	ENST00000308022.2	37	NULL	CCDS8167.1	11																																																																																			TMEM134	-	-	ENSG00000172663		0.637	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM134	HGNC	protein_coding	OTTHUMT00000398994.1	-	0.00	229	0	C	NM_025124		67232074	-1	tier1	-	no_errors	ENST00000535813	ensembl	human	known	74_37	rna	17.50	165	35	SNP	0.001	G
TMEM145	284339	genome.wustl.edu	37	19	42818572	42818572	+	Intron	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:42818572G>T	ENST00000301204.3	+	3	236				TMEM145_ENST00000598766.1_Splice_Site|TMEM145_ENST00000601020.1_Intron	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145						G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GGCTGCCCCAGCTCCCGGTCC	0.597																																																	0													115.0	111.0	112.0					19																	42818572		2203	4300	6503	SO:0001627	intron_variant	0			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.196-31G>T	19.37:g.42818572G>T				Splice_Site	SNP	-	e3-1	ENST00000301204.3	37	c.196-1	CCDS12603.1	19																																																																																			TMEM145	-	-	ENSG00000167619		0.597	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	-	0.00	50	0	G	NM_173633		42818572	+1	tier1	-	no_errors	ENST00000598766	ensembl	human	putative	74_37	splice_site	10.26	35	4	SNP	0.043	T
TMEM241	85019	genome.wustl.edu	37	18	20932234	20932234	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr18:20932234G>A	ENST00000383233.3	-	13	743	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Missense_Mutation_p.L110F	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	231						integral component of membrane (GO:0016021)											CTGAACATGAGAAAGAATCCC	0.448																																																	0													87.0	86.0	86.0					18																	20932234		1865	4098	5963	SO:0001583	missense	0			BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.691C>T	18.37:g.20932234G>A	ENSP00000372720:p.Leu231Phe		I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	NULL	p.L231F	ENST00000383233.3	37	c.691	CCDS11876.2	18	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523111	0.27211	.	.	ENSG00000134490	ENST00000450466;ENST00000383233	T;T	0.72615	0.41;-0.67	5.48	3.33	0.38152	.	0.783494	0.10969	N	0.614028	T	0.73575	0.3604	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.67231	0.95	T	0.69914	-0.5016	10	0.62326	D	0.03	-7.57	7.5854	0.27989	0.1002:0.1724:0.7274:0.0	.	231	Q24JQ0	CR045_HUMAN	F	110;231	ENSP00000414899:L110F;ENSP00000372720:L231F	ENSP00000372720:L231F	L	-	1	0	C18orf45	19186232	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.093000	0.50217	1.287000	0.44583	0.655000	0.94253	CTC	TMEM241	-	NULL	ENSG00000134490		0.448	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM241	HGNC	protein_coding	OTTHUMT00000254702.3	-	0.00	81	0	G	NM_032933		20932234	-1	tier1	-	no_errors	ENST00000383233	ensembl	human	known	74_37	missense	32.47	51	25	SNP	0.994	A
TMEM45B	120224	genome.wustl.edu	37	11	129727255	129727255	+	Missense_Mutation	SNP	G	G	C	rs78733006	byFrequency	TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr11:129727255G>C	ENST00000524567.1	+	5	899	c.618G>C	c.(616-618)caG>caC	p.Q206H	TMEM45B_ENST00000281441.3_Missense_Mutation_p.Q206H			Q96B21	TM45B_HUMAN	transmembrane protein 45B	206						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		AATGGGACCAGAAGGATGATG	0.502																																																	0													262.0	214.0	230.0					11																	129727255		2201	4297	6498	SO:0001583	missense	0			AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.618G>C	11.37:g.129727255G>C	ENSP00000436293:p.Gln206His		A8K2L8	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.Q206H	ENST00000524567.1	37	c.618	CCDS8482.1	11	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858972	0.51376	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.44083	0.93;0.93	5.91	4.81	0.61882	.	0.177241	0.50627	D	0.000107	T	0.48169	0.1485	M	0.79805	2.47	0.39040	D	0.960103	B	0.29671	0.254	B	0.36335	0.222	T	0.45160	-0.9280	10	0.15066	T	0.55	-32.6748	14.6907	0.69083	0.0822:0.0:0.9178:0.0	.	206	Q96B21	TM45B_HUMAN	H	206	ENSP00000281441:Q206H;ENSP00000436293:Q206H	ENSP00000281441:Q206H	Q	+	3	2	TMEM45B	129232465	0.954000	0.32549	0.988000	0.46212	0.390000	0.30446	1.649000	0.37281	2.793000	0.96121	0.655000	0.94253	CAG	TMEM45B	-	pfam_DUF716_TMEM45	ENSG00000151715		0.502	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TMEM45B	HGNC	protein_coding	OTTHUMT00000386062.1	-	0.00	61	0	G	NM_138788		129727255	+1	tier1	-	no_errors	ENST00000281441	ensembl	human	known	74_37	missense	31.46	59	28	SNP	0.982	C
TMEM59	9528	genome.wustl.edu	37	1	54518838	54518838	+	Silent	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:54518838G>T	ENST00000234831.5	-	1	273	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TCEANC2_ENST00000234827.1_5'Flank|TCEANC2_ENST00000371331.1_5'Flank|TMEM59_ENST00000371337.3_Silent_p.L8L|TMEM59_ENST00000371341.1_Intron|MIR4781_ENST00000585250.1_RNA	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	8					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCCTCACCCAGAGGCTCCCCT	0.642																																																	0													41.0	46.0	44.0					1																	54518838		2203	4300	6503	SO:0001819	synonymous_variant	0			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.24C>A	1.37:g.54518838G>T			B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Silent	SNP	pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m	p.L8	ENST00000234831.5	37	c.24	CCDS586.1	1																																																																																			TMEM59	-	NULL	ENSG00000116209		0.642	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	HGNC	protein_coding	OTTHUMT00000023254.2	-	0.00	124	0	G	NM_004872		54518838	-1	tier1	-	no_errors	ENST00000234831	ensembl	human	known	74_37	silent	22.14	102	29	SNP	0.806	T
TMF1	7110	genome.wustl.edu	37	3	69088142	69088142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:69088142C>A	ENST00000398559.2	-	7	2062	c.1846G>T	c.(1846-1848)Gag>Tag	p.E616*	TMF1_ENST00000543976.1_Nonsense_Mutation_p.E619*|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	616					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTCTCAACCTCTTCTTTGCCA	0.323																																																	0													112.0	99.0	103.0					3																	69088142		1813	4065	5878	SO:0001587	stop_gained	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1846G>T	3.37:g.69088142C>A	ENSP00000381567:p.Glu616*		B7ZLJ2|Q17R87|Q59GK0	Nonsense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.E619*	ENST00000398559.2	37	c.1855	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.744189	0.98937	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	.	.	.	5.4	5.4	0.78164	.	0.092274	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.8685	19.1732	0.93588	0.0:1.0:0.0:0.0	.	.	.	.	X	616;619;532	.	ENSP00000348582:E532X	E	-	1	0	TMF1	69170832	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.670000	0.83925	2.527000	0.85204	0.573000	0.79308	GAG	TMF1	-	NULL	ENSG00000144747		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	-	0.00	40	0	C	NM_007114		69088142	-1	tier1	-	no_errors	ENST00000543976	ensembl	human	known	74_37	nonsense	29.27	29	12	SNP	1.000	A
TMPRSS9	360200	genome.wustl.edu	37	19	2416673	2416673	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:2416673C>T	ENST00000332578.3	+	11	1781	c.1781C>T	c.(1780-1782)gCt>gTt	p.A594V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	594	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGACCTGGCTGTCCTGGAG	0.662																																																	0													56.0	56.0	56.0					19																	2416673		2203	4300	6503	SO:0001583	missense	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1781C>T	19.37:g.2416673C>T	ENSP00000330264:p.Ala594Val		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.A594V	ENST00000332578.3	37	c.1781	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.294353	0.95546	.	.	ENSG00000178297	ENST00000332578	T	0.76968	-1.06	5.17	5.17	0.71159	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000028	D	0.91446	0.7300	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93784	0.7086	10	0.87932	D	0	.	17.1959	0.86892	0.0:1.0:0.0:0.0	.	594	Q7Z410	TMPS9_HUMAN	V	594	ENSP00000330264:A594V	ENSP00000330264:A594V	A	+	2	0	TMPRSS9	2367673	1.000000	0.71417	0.950000	0.38849	0.981000	0.71138	5.897000	0.69831	2.415000	0.81967	0.484000	0.47621	GCT	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.662	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3		0.00	102	0	C	NM_182973		2416673	+1			no_errors	ENST00000332578	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
TMPRSS9	360200	genome.wustl.edu	37	19	2425186	2425186	+	Silent	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:2425186C>T	ENST00000332578.3	+	15	2802	c.2802C>T	c.(2800-2802)atC>atT	p.I934I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	934	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGTCCCATCTGCCTGCCCG	0.731																																																	0													9.0	8.0	8.0					19																	2425186		2165	4207	6372	SO:0001819	synonymous_variant	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2802C>T	19.37:g.2425186C>T			Q6ZND6|Q7Z411	Silent	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.I934	ENST00000332578.3	37	c.2802	CCDS12088.1	19																																																																																			TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.731	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3		0.00	37	0	C	NM_182973		2425186	+1			no_errors	ENST00000332578	ensembl	human	known	74_37	silent	19.05	17	4	SNP	1.000	T
TNFRSF1B	7133	genome.wustl.edu	37	1	12252971	12252971	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:12252971G>A	ENST00000376259.3	+	6	692	c.603G>A	c.(601-603)acG>acA	p.T201T	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	201					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CAGTCTGCACGTCCACGTCCC	0.622																																																	0													160.0	118.0	132.0					1																	12252971		2203	4300	6503	SO:0001819	synonymous_variant	0			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.603G>A	1.37:g.12252971G>A			B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.T201	ENST00000376259.3	37	c.603	CCDS145.1	1																																																																																			TNFRSF1B	-	NULL	ENSG00000028137		0.622	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1		0.00	45	0	G	NM_001066		12252971	+1			no_errors	ENST00000376259	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.000	A
TOP1MT	116447	genome.wustl.edu	37	8	144403488	144403488	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:144403488G>A	ENST00000329245.4	-	8	1063	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	TOP1MT_ENST00000521193.1_Silent_p.L245L|TOP1MT_ENST00000519148.1_Silent_p.L245L|TOP1MT_ENST00000523676.1_Silent_p.L245L	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	343					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCTCCACGCGGAGGGAACAGC	0.607																																																	0													117.0	98.0	105.0					8																	144403488		2202	4300	6502	SO:0001819	synonymous_variant	0			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1029C>T	8.37:g.144403488G>A			B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.L343	ENST00000329245.4	37	c.1029	CCDS6400.1	8																																																																																			TOP1MT	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	ENSG00000184428		0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	HGNC	protein_coding	OTTHUMT00000381247.3	-	0.00	75	0	G	NM_052963		144403488	-1	tier1	-	no_errors	ENST00000329245	ensembl	human	known	74_37	silent	27.96	67	26	SNP	0.735	A
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	GMAF=0.0005	0.00	48	0	C	NM_000546		7577120	-1	tier1	rs28934576	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	23.40	36	11	SNP	0.864	T
CENPJ	55835	genome.wustl.edu	37	13	25499986	25499986	+	5'Flank	SNP	A	A	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr13:25499986A>T	ENST00000381884.4	-	0	0					NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J						cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		gtttacttacattgaccagga	0.458																																																	0																																										SO:0001631	upstream_gene_variant	0			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595		13.37:g.25499986A>T	Exception_encountered		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	RNA	SNP	-	NULL	ENST00000381884.4	37	NULL	CCDS9310.1	13																																																																																			TPTE2P1	-	-	ENSG00000253771		0.458	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2P1	HGNC	protein_coding	OTTHUMT00000044209.1	-	0.00	69	0	A	NM_018451		25499986	-1	tier1	-	no_errors	ENST00000434100	ensembl	human	known	74_37	rna	7.84	47	4	SNP	0.136	T
TSPYL4	23270	genome.wustl.edu	37	6	116574842	116574842	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:116574842G>T	ENST00000420283.1	-	1	419	c.330C>A	c.(328-330)gaC>gaA	p.D110E	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	110					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TCTGGCTGCTGTCAGCAGCCT	0.642																																																	0													7.0	7.0	7.0					6																	116574842		1831	4040	5871	SO:0001583	missense	0				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.330C>A	6.37:g.116574842G>T	ENSP00000410943:p.Asp110Glu		B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	pfam_NAP_family	p.D110E	ENST00000420283.1	37	c.330	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	G	1.872	-0.460026	0.04508	.	.	ENSG00000187189	ENST00000420283	T	0.19105	2.17	3.92	3.04	0.35103	.	.	.	.	.	T	0.09774	0.0240	M	0.65498	2.005	0.09310	N	1	B	0.33512	0.415	B	0.38264	0.269	T	0.35895	-0.9770	9	0.07644	T	0.81	-7.7618	12.9689	0.58501	0.0931:0.0:0.9069:0.0	.	110	Q9UJ04	TSYL4_HUMAN	E	110	ENSP00000410943:D110E	ENSP00000410943:D110E	D	-	3	2	TSPYL4	116681535	0.095000	0.21747	0.028000	0.17463	0.130000	0.20726	1.596000	0.36718	0.623000	0.30267	-1.598000	0.00824	GAC	TSPYL4	-	NULL	ENSG00000187189		0.642	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2		0.00	24	0	G			116574842	-1			no_errors	ENST00000420283	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.183	T
TTPAL	79183	genome.wustl.edu	37	20	43115331	43115331	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr20:43115331G>C	ENST00000372904.3	+	5	878	c.735G>C	c.(733-735)gaG>gaC	p.E245D	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Missense_Mutation_p.E245D	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	245	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TTCTAAAGGAGAAAATAGCAA	0.348																																																	0													70.0	67.0	68.0					20																	43115331		2203	4300	6503	SO:0001583	missense	0			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.735G>C	20.37:g.43115331G>C	ENSP00000361995:p.Glu245Asp		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.E245D	ENST00000372904.3	37	c.735	CCDS13332.2	20	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127750	0.56721	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000456317	D;D;D	0.85955	-2.05;-2.05;-2.05	5.93	4.99	0.66335	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	M	0.62088	1.915	0.80722	D	1	P;D	0.55385	0.928;0.971	P;P	0.56751	0.805;0.672	D	0.84785	0.0775	10	0.32370	T	0.25	-15.271	7.1385	0.25541	0.2808:0.0:0.7192:0.0	.	182;245	B2RA57;Q9BTX7	.;TTPAL_HUMAN	D	245;245;211	ENSP00000262605:E245D;ENSP00000361995:E245D;ENSP00000412720:E211D	ENSP00000262605:E245D	E	+	3	2	TTPAL	42548745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.690000	0.61731	1.529000	0.49120	0.555000	0.69702	GAG	TTPAL	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000124120		0.348	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPAL	HGNC	protein_coding	OTTHUMT00000106886.2		0.00	63	0	G	NM_024331		43115331	+1			no_errors	ENST00000262605	ensembl	human	known	74_37	missense	13.33	65	10	SNP	1.000	C
UAP1L1	91373	genome.wustl.edu	37	9	139973475	139973475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr9:139973475G>T	ENST00000409858.3	+	4	750	c.718G>T	c.(718-720)Gag>Tag	p.E240*	UAP1L1_ENST00000360271.3_Nonsense_Mutation_p.E117*|UAP1L1_ENST00000476184.1_3'UTR	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	240							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CAAGATCCTGGAGGACATGGA	0.632																																																	0													98.0	98.0	98.0					9																	139973475		2203	4299	6502	SO:0001587	stop_gained	0			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.718G>T	9.37:g.139973475G>T	ENSP00000386935:p.Glu240*		A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Nonsense_Mutation	SNP	pfam_UDPGP_trans	p.E240*	ENST00000409858.3	37	c.718	CCDS7028.2	9	.	.	.	.	.	.	.	.	.	.	G	36	5.961473	0.97151	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	.	.	.	4.86	3.95	0.45737	.	0.401107	0.27946	N	0.017201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.942	0.29963	0.0853:0.1632:0.7516:0.0	.	.	.	.	X	240;117	.	ENSP00000353409:E117X	E	+	1	0	UAP1L1	139093296	1.000000	0.71417	0.974000	0.42286	0.945000	0.59286	3.226000	0.51254	1.028000	0.39785	0.561000	0.74099	GAG	UAP1L1	-	pfam_UDPGP_trans	ENSG00000197355		0.632	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UAP1L1	HGNC	protein_coding	OTTHUMT00000055216.2	-	0.00	94	0	G	XM_038063		139973475	+1	tier1	-	no_errors	ENST00000409858	ensembl	human	known	74_37	nonsense	26.23	45	16	SNP	1.000	T
UBE3A	7337	genome.wustl.edu	37	15	25605546	25605546	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:25605546G>C	ENST00000397954.2	-	5	1745	c.1746C>G	c.(1744-1746)atC>atG	p.I582M	UBE3A_ENST00000566215.1_Missense_Mutation_p.I559M|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.I559M|UBE3A_ENST00000232165.3_Missense_Mutation_p.I579M|UBE3A_ENST00000438097.1_Missense_Mutation_p.I559M			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	582					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTGGATTGAAGATTTCCTCCA	0.338																																																	0													113.0	102.0	106.0					15																	25605546		2203	4300	6503	SO:0001583	missense	0			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1746C>G	15.37:g.25605546G>C	ENSP00000381045:p.Ile582Met		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.I582M	ENST00000397954.2	37	c.1746	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008623	0.54361	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.63	3.65	0.41850	HECT (4);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.42632	1.34	0.58432	D	0.999999	P;D	0.69078	0.932;0.997	P;D	0.66602	0.653;0.945	T	0.56980	-0.7889	10	0.26408	T	0.33	.	7.4615	0.27298	0.1397:0.0:0.7252:0.1351	.	579;582	Q05086-3;Q05086	.;UBE3A_HUMAN	M	579;579;582;559;559	ENSP00000232165:I579M;ENSP00000381045:I582M;ENSP00000411258:I559M;ENSP00000401265:I559M	ENSP00000232165:I579M	I	-	3	3	UBE3A	23156639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.234000	0.32660	1.348000	0.45733	0.655000	0.94253	ATC	UBE3A	-	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	ENSG00000114062		0.338	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	-	0.00	59	0	G	NM_000462		25605546	-1	tier1	-	no_errors	ENST00000397954	ensembl	human	known	74_37	missense	13.16	66	10	SNP	1.000	C
UNC13D	201294	genome.wustl.edu	37	17	73827202	73827202	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:73827202C>T	ENST00000207549.4	-	27	2981	c.2602G>A	c.(2602-2604)Gcc>Acc	p.A868T	UNC13D_ENST00000412096.2_Missense_Mutation_p.A868T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	868	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGTGCAGGGCCTTGGGTGGC	0.617									Familial Hemophagocytic Lymphohistiocytosis																																								0													65.0	65.0	65.0					17																	73827202		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2602G>A	17.37:g.73827202C>T	ENSP00000207549:p.Ala868Thr		B4DWG9|Q9H7K5	Missense_Mutation	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A868T	ENST00000207549.4	37	c.2602	CCDS11730.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.797|0.797	-0.756636|-0.756636	0.03019|0.03019	.|.	.|.	ENSG00000092929|ENSG00000092929	ENST00000448606|ENST00000207549;ENST00000412096	.|T;T	.|0.73789	.|-0.78;-0.78	4.67|4.67	4.67|4.67	0.58626|0.58626	.|Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	.|0.156200	.|0.44285	.|D	.|0.000467	.|T	.|0.53351	.|0.1791	N|N	0.16602|0.16602	0.42|0.42	0.32826|0.32826	D|D	0.503431|0.503431	.|B	.|0.14012	.|0.009	.|B	.|0.12156	.|0.007	.|T	.|0.53913	.|-0.8371	.|10	.|0.10111	.|T	.|0.7	.|-1.7736	9.1803|9.1803	0.37138|0.37138	0.0:0.8504:0.0:0.1496|0.0:0.8504:0.0:0.1496	.|.	.|868	.|Q70J99	.|UN13D_HUMAN	.|T	-1|868	.|ENSP00000207549:A868T;ENSP00000388093:A868T	.|ENSP00000207549:A868T	.|A	-|-	.|1	.|0	UNC13D|UNC13D	71338797|71338797	0.257000|0.257000	0.24022|0.24022	0.877000|0.877000	0.34402|0.34402	0.025000|0.025000	0.11179|0.11179	0.717000|0.717000	0.25851|0.25851	2.397000|2.397000	0.81536|0.81536	0.655000|0.655000	0.94253|0.94253	.|GCC	UNC13D	-	pfam_Munc13_subgr_dom-2	ENSG00000092929		0.617	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	-	0.00	144	0	C	XM_113950		73827202	-1	tier1	-	no_errors	ENST00000412096	ensembl	human	known	74_37	missense	33.33	70	35	SNP	0.802	T
URB2	9816	genome.wustl.edu	37	1	229771164	229771164	+	Silent	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:229771164G>T	ENST00000258243.2	+	4	940	c.804G>T	c.(802-804)acG>acT	p.T268T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	268						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATGTGAAGACGGGAGCCATGA	0.547																																																	0													59.0	59.0	59.0					1																	229771164		2203	4300	6503	SO:0001819	synonymous_variant	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.804G>T	1.37:g.229771164G>T			Q5VYC9	Silent	SNP	pfam_Urb2/Npa2_C	p.T268	ENST00000258243.2	37	c.804	CCDS31052.1	1																																																																																			URB2	-	NULL	ENSG00000135763		0.547	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	-	0.00	41	0	G	NM_014777		229771164	+1	tier1	-	no_errors	ENST00000258243	ensembl	human	known	74_37	silent	14.29	36	6	SNP	0.577	T
USP3	9960	genome.wustl.edu	37	15	63862741	63862741	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr15:63862741G>T	ENST00000380324.3	+	9	1000	c.871G>T	c.(871-873)Gag>Tag	p.E291*	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000559711.1_Nonsense_Mutation_p.E202*|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000558285.1_Nonsense_Mutation_p.E274*|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000268049.7_Nonsense_Mutation_p.E269*|USP3_ENST00000539772.1_Nonsense_Mutation_p.E42*|USP3_ENST00000540797.1_Nonsense_Mutation_p.E247*	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	291	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AATTCTGCAGGAGAATTCTAC	0.448																																																	0													130.0	123.0	125.0					15																	63862741		2203	4300	6503	SO:0001587	stop_gained	0			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.871G>T	15.37:g.63862741G>T	ENSP00000369681:p.Glu291*		B4DVU5|F5H1A6|Q8WVD0	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.E291*	ENST00000380324.3	37	c.871	CCDS32265.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.367877	0.97511	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	.	.	.	5.84	5.84	0.93424	.	0.206543	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.1216	0.97962	0.0:0.0:1.0:0.0	.	.	.	.	X	247;291;269;42;206;122	.	ENSP00000268049:E269X	E	+	1	0	USP3	61649794	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.383000	0.97214	2.762000	0.94881	0.563000	0.77884	GAG	USP3	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000140455		0.448	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP3	HGNC	protein_coding	OTTHUMT00000417773.1	-	0.00	71	0	G			63862741	+1	tier1	-	no_errors	ENST00000380324	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T
UTP20	27340	genome.wustl.edu	37	12	101706052	101706052	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr12:101706052C>G	ENST00000261637.4	+	21	2724	c.2550C>G	c.(2548-2550)atC>atG	p.I850M		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	850					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGAGATTTATCAAGTAAGTTT	0.448																																																	0													70.0	77.0	74.0					12																	101706052		2203	4300	6503	SO:0001583	missense	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2550C>G	12.37:g.101706052C>G	ENSP00000261637:p.Ile850Met		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.I850M	ENST00000261637.4	37	c.2550	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103582	0.37145	.	.	ENSG00000120800	ENST00000261637	T	0.66638	-0.22	5.35	4.4	0.53042	Armadillo-type fold (1);	0.103747	0.64402	D	0.000003	T	0.50411	0.1614	L	0.47016	1.485	0.52501	D	0.999959	P	0.43314	0.803	B	0.36766	0.232	T	0.51317	-0.8721	10	0.33940	T	0.23	-17.243	3.9776	0.09481	0.0:0.5813:0.2206:0.1981	.	850	O75691	UTP20_HUMAN	M	850	ENSP00000261637:I850M	ENSP00000261637:I850M	I	+	3	3	UTP20	100230183	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	2.498000	0.45363	2.490000	0.84030	0.563000	0.77884	ATC	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.448	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0.00	91	0	C	NM_014503		101706052	+1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	missense	5.71	99	6	SNP	1.000	G
VAC14	55697	genome.wustl.edu	37	16	70796488	70796488	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:70796488G>A	ENST00000261776.5	-	12	1586	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	442					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGGAAAGAGGCTGTCCGTGT	0.607																																																	0													143.0	89.0	108.0					16																	70796488		2198	4300	6498	SO:0001819	synonymous_variant	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1326C>T	16.37:g.70796488G>A			B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.A186V	ENST00000261776.5	37	c.557	CCDS10896.1	16																																																																																			VAC14	-	NULL	ENSG00000103043		0.607	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	-	0.00	83	0	G	NM_018052		70796488	-1	tier1	-	no_errors	ENST00000568886	ensembl	human	known	74_37	missense	23.81	48	15	SNP	1.000	A
VANGL2	57216	genome.wustl.edu	37	1	160388955	160388955	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:160388955C>G	ENST00000368061.2	+	4	830	c.356C>G	c.(355-357)tCt>tGt	p.S119C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	119					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTGCTGTCTTTCCTCACG	0.662																																																	0													63.0	62.0	63.0					1																	160388955		2203	4300	6503	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.356C>G	1.37:g.160388955C>G	ENSP00000357040:p.Ser119Cys		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.S119C	ENST00000368061.2	37	c.356	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186027	0.38609	.	.	ENSG00000162738	ENST00000368061	T	0.80994	-1.44	4.93	4.93	0.64822	.	0.132384	0.52532	D	0.000075	T	0.70141	0.3190	L	0.55990	1.75	0.40684	D	0.98233	B	0.06786	0.001	B	0.08055	0.003	T	0.71279	-0.4640	10	0.66056	D	0.02	-12.7971	17.0673	0.86562	0.0:1.0:0.0:0.0	.	119	Q9ULK5	VANG2_HUMAN	C	119	ENSP00000357040:S119C	ENSP00000357040:S119C	S	+	2	0	VANGL2	158655579	0.189000	0.23263	0.332000	0.25469	0.696000	0.40369	1.095000	0.30964	2.433000	0.82419	0.563000	0.77884	TCT	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.662	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0.00	21	0	C	NM_020335		160388955	+1	tier1	-	no_errors	ENST00000368061	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.603	G
VCAN	1462	genome.wustl.edu	37	5	82818043	82818043	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr5:82818043G>A	ENST00000265077.3	+	7	4483	c.3918G>A	c.(3916-3918)gcG>gcA	p.A1306A	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.A1306A|VCAN_ENST00000512590.2_Silent_p.A1258A|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1306	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.A1306A(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GACCTCAGGCGCTTTCTACGC	0.448																																																	1	Substitution - coding silent(1)	large_intestine(1)											60.0	61.0	61.0					5																	82818043		2203	4300	6503	SO:0001819	synonymous_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3918G>A	5.37:g.82818043G>A			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.A1306	ENST00000265077.3	37	c.3918	CCDS4060.1	5																																																																																			VCAN	-	NULL	ENSG00000038427		0.448	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0.00	55	0	G	NM_004385		82818043	+1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	silent	24.49	37	12	SNP	0.001	A
WAPAL	23063	genome.wustl.edu	37	10	88196064	88196064	+	3'UTR	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr10:88196064T>C	ENST00000298767.5	-	0	5281				WAPAL_ENST00000484070.1_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)						mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AGAAACATGATGTAACTACCT	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.*1236A>G	10.37:g.88196064T>C			A7E2B5|Q5VSK5|Q8IX10|Q92549	RNA	SNP	-	NULL	ENST00000298767.5	37	NULL	CCDS7375.1	10																																																																																			WAPAL	-	-	ENSG00000062650		0.289	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	-	0.00	97	0	T	NM_015045		88196064	-1	tier1	-	no_errors	ENST00000484070	ensembl	human	known	74_37	rna	19.80	81	20	SNP	0.974	C
WARS	7453	genome.wustl.edu	37	14	100801253	100801253	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:100801253C>G	ENST00000355338.2	-	11	1993	c.1375G>C	c.(1375-1377)Gag>Cag	p.E459Q	WARS_ENST00000557135.1_Missense_Mutation_p.E459Q|WARS_ENST00000556645.1_Missense_Mutation_p.E418Q|WARS_ENST00000344102.5_Missense_Mutation_p.E418Q|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000392882.2_Missense_Mutation_p.E459Q|WARS_ENST00000358655.4_Missense_Mutation_p.E418Q	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	459					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GTCATGAACTCTTTCACTATC	0.488																																																	0													153.0	128.0	137.0					14																	100801253		2203	4300	6503	SO:0001583	missense	0			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1375G>C	14.37:g.100801253C>G	ENSP00000347495:p.Glu459Gln		A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.E459Q	ENST00000355338.2	37	c.1375	CCDS9960.1	14	.	.	.	.	.	.	.	.	.	.	C	0.846	-0.740256	0.03088	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.22	3.29	0.37713	.	0.279509	0.40908	N	0.000997	T	0.48390	0.1497	N	0.05124	-0.11	0.33070	D	0.535281	B	0.11235	0.004	B	0.06405	0.002	T	0.48352	-0.9043	10	0.11485	T	0.65	-46.5748	17.0905	0.86620	0.0:0.6256:0.3744:0.0	.	459	P23381	SYWC_HUMAN	Q	459;418;459;418;459;418	ENSP00000376620:E459Q;ENSP00000351481:E418Q;ENSP00000347495:E459Q;ENSP00000339485:E418Q;ENSP00000451460:E459Q;ENSP00000451887:E418Q	ENSP00000339485:E418Q	E	-	1	0	WARS	99871006	1.000000	0.71417	0.899000	0.35326	0.037000	0.13140	3.933000	0.56545	1.350000	0.45770	-0.189000	0.12847	GAG	WARS	-	tigrfam_Trp-tRNA-ligase	ENSG00000140105		0.488	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WARS	HGNC	protein_coding	OTTHUMT00000414236.1	-	0.00	63	0	C	NM_004184		100801253	-1	tier1	-	no_errors	ENST00000355338	ensembl	human	known	74_37	missense	22.22	41	12	SNP	0.951	G
WDR24	84219	genome.wustl.edu	37	16	740071	740071	+	Silent	SNP	G	G	A	rs568055066		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:740071G>A	ENST00000248142.6	-	2	89	c.90C>T	c.(88-90)ctC>ctT	p.L30L	WDR24_ENST00000293883.4_5'UTR|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	30								p.L30L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TGTCAGCCCTGAGGGCGGCGG	0.657																																																	1	Substitution - coding silent(1)	breast(1)																																								SO:0001819	synonymous_variant	0			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.90C>T	16.37:g.740071G>A			A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L30	ENST00000248142.6	37	c.90		16																																																																																			WDR24	-	NULL	ENSG00000127580		0.657	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		-	0.00	74	0	G	NM_032259		740071	-1	tier1	-	no_errors	ENST00000248142	ensembl	human	known	74_37	silent	12.28	50	7	SNP	0.001	A
XCR1	2829	genome.wustl.edu	37	3	46062775	46062775	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:46062775C>T	ENST00000309285.3	-	2	1021	c.665G>A	c.(664-666)cGc>cAc	p.R222H	XCR1_ENST00000542109.1_Missense_Mutation_p.R222H	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	222					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.R222H(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTTGACCGTGCGGTGGCGCCG	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											68.0	61.0	64.0					3																	46062775		2203	4300	6503	SO:0001583	missense	0				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.665G>A	3.37:g.46062775C>T	ENSP00000310405:p.Arg222His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.R222H	ENST00000309285.3	37	c.665	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905715	0.72868	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.43688	0.94;0.94	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.191393	0.39544	N	0.001325	T	0.65739	0.2720	M	0.80746	2.51	0.37263	D	0.907054	D	0.89917	1.0	D	0.85130	0.997	T	0.73366	-0.4005	10	0.87932	D	0	.	13.1218	0.59331	0.0:0.927:0.0:0.0729	.	222	P46094	XCR1_HUMAN	H	222	ENSP00000310405:R222H;ENSP00000438119:R222H	ENSP00000310405:R222H	R	-	2	0	XCR1	46037779	1.000000	0.71417	0.956000	0.39512	0.677000	0.39632	2.051000	0.41307	2.696000	0.92011	0.650000	0.86243	CGC	XCR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1	ENSG00000173578		0.587	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2		0.00	36	0	C			46062775	-1			no_errors	ENST00000309285	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
WDR6	11180	genome.wustl.edu	37	3	49044854	49044854	+	5'UTR	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr3:49044854C>G	ENST00000608424.1	+	0	29				WDR6_ENST00000415265.2_5'UTR|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Missense_Mutation_p.S27W			Q9NNW5	WDR6_HUMAN	WD repeat domain 6						cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTCAGCACCTCGAGGATCGAC	0.647																																																	0													38.0	32.0	34.0					3																	49044854		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.-11C>G	3.37:g.49044854C>G			B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S27W	ENST00000608424.1	37	c.80		3	.	.	.	.	.	.	.	.	.	.	C	8.882	0.951813	0.18431	.	.	ENSG00000178252	ENST00000395474	T	0.70631	-0.5	4.06	-8.11	0.01082	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.49062	-0.8978	6	0.44086	T	0.13	.	3.1905	0.06615	0.1823:0.1463:0.4477:0.2237	.	.	.	.	W	27	ENSP00000378857:S27W	ENSP00000378857:S27W	S	+	2	0	WDR6	49019858	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.815000	0.00182	-3.607000	0.00133	-0.834000	0.03071	TCG	WDR6	-	NULL	ENSG00000178252		0.647	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	-	0.00	67	0	C			49044854	+1	tier1	-	no_errors	ENST00000395474	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.000	G
XPO1	7514	genome.wustl.edu	37	2	61726050	61726051	+	Splice_Site	INS	-	-	A	rs372688892		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:61726050_61726051insA	ENST00000401558.2	-	8	1318		c.e8-2		XPO1_ENST00000406957.1_Splice_Site|XPO1_ENST00000404992.2_Splice_Site	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1						gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGCACATGCTAAAAAAAAAAA	0.262			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0																																										SO:0001630	splice_region_variant	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.591-2->T	2.37:g.61726061_61726061dupA			A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Splice_Site	INS	-	e7-2	ENST00000401558.2	37	c.591-3_591-2	CCDS33205.1	2																																																																																			XPO1	-	-	ENSG00000082898		0.262	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3		0.00	28	0	-	NM_003400	Intron	61726051	-1	tier1		no_errors	ENST00000401558	ensembl	human	known	74_37	splice_site_ins	12.82	34	5	INS	1.000:0.996	A
ZAK	51776	genome.wustl.edu	37	2	174131459	174131459	+	Missense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:174131459G>A	ENST00000375213.3	+	20	2462	c.2384G>A	c.(2383-2385)cGt>cAt	p.R795H	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R795H|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		795					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GGGGACCACCGTGGATGGAGA	0.413																																																	0													18.0	21.0	20.0					2																	174131459		1845	4083	5928	SO:0001583	missense	0																														ENST00000375213.3:c.2384G>A	2.37:g.174131459G>A	ENSP00000364361:p.Arg795His		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R795H	ENST00000375213.3	37	c.2384	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346602	0.61073	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	D;D	0.81659	-1.52;-1.52	6.08	4.26	0.50523	.	0.155161	0.64402	D	0.000015	T	0.70193	0.3196	L	0.32530	0.975	0.80722	D	1	B	0.17465	0.022	B	0.10450	0.005	T	0.65813	-0.6077	10	0.87932	D	0	.	8.9345	0.35691	0.1327:0.1244:0.7429:0.0	.	795	Q9NYL2	MLTK_HUMAN	H	795	ENSP00000387259:R795H;ENSP00000364361:R795H	ENSP00000364361:R795H	R	+	2	0	AC013461.1	173839705	1.000000	0.71417	0.048000	0.18961	0.536000	0.34869	4.092000	0.57707	0.875000	0.35847	0.591000	0.81541	CGT	MLTK	-	NULL	ENSG00000091436		0.413	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_gn	protein_coding	OTTHUMT00000255401.1	-	0.00	32	0	G			174131459	+1	tier1	-	no_errors	ENST00000375213	ensembl	human	known	74_37	missense	16.36	46	9	SNP	0.928	A
ZBTB24	9841	genome.wustl.edu	37	6	109788901	109788901	+	Missense_Mutation	SNP	G	G	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr6:109788901G>T	ENST00000230122.3	-	6	1492	c.1325C>A	c.(1324-1326)tCt>tAt	p.S442Y	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	442					hematopoietic progenitor cell differentiation (GO:0002244)|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)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGCTGTGAAAGATTTGCCACA	0.348																																																	0													105.0	103.0	104.0					6																	109788901		2203	4300	6503	SO:0001583	missense	0			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1325C>A	6.37:g.109788901G>T	ENSP00000230122:p.Ser442Tyr		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S442Y	ENST00000230122.3	37	c.1325	CCDS34509.1	6	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398478	0.83120	.	.	ENSG00000112365	ENST00000230122	T	0.36520	1.25	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056060	0.64402	D	0.000001	T	0.57917	0.2086	M	0.79614	2.46	0.39370	D	0.966068	D	0.89917	1.0	D	0.78314	0.991	T	0.60089	-0.7331	10	0.59425	D	0.04	-19.4321	19.8557	0.96758	0.0:0.0:1.0:0.0	.	442	O43167	ZBT24_HUMAN	Y	442	ENSP00000230122:S442Y	ENSP00000230122:S442Y	S	-	2	0	ZBTB24	109895594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.779000	0.68948	2.706000	0.92434	0.650000	0.86243	TCT	ZBTB24	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112365		0.348	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	HGNC	protein_coding	OTTHUMT00000041758.1	-	0.00	59	0	G	NM_014797		109788901	-1	tier1	-	no_errors	ENST00000230122	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	T
ZFAT	57623	genome.wustl.edu	37	8	135669872	135669872	+	Missense_Mutation	SNP	T	T	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr8:135669872T>A	ENST00000377838.3	-	2	302	c.128A>T	c.(127-129)gAt>gTt	p.D43V	ZFAT_ENST00000520727.1_Missense_Mutation_p.D31V|ZFAT_ENST00000520356.1_Missense_Mutation_p.D31V|ZFAT_ENST00000429442.2_Missense_Mutation_p.D31V|ZFAT_ENST00000520214.1_Missense_Mutation_p.D31V|ZFAT_ENST00000523399.1_Missense_Mutation_p.D43V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	43					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATAATCTCATCAACATTAAC	0.493																																																	0													109.0	103.0	105.0					8																	135669872		1870	4110	5980	SO:0001583	missense	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.128A>T	8.37:g.135669872T>A	ENSP00000367069:p.Asp43Val		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D43V	ENST00000377838.3	37	c.128	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892965	0.72524	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000518191	T;T;T;T;T;T;T	0.39787	2.45;2.37;2.37;2.37;2.37;2.33;1.06	5.72	5.72	0.89469	.	0.119692	0.53938	D	0.000045	T	0.38746	0.1052	L	0.27053	0.805	0.54753	D	0.999981	P;D;P;D	0.60575	0.895;0.988;0.911;0.966	B;P;P;B	0.51657	0.368;0.676;0.474;0.368	T	0.31971	-0.9924	10	0.62326	D	0.03	-21.8693	8.4956	0.33125	0.0:0.0853:0.0:0.9147	.	43;31;31;43	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	31;31;31;43;31;31;43;31;31	ENSP00000427879:D31V;ENSP00000427831:D31V;ENSP00000394501:D31V;ENSP00000367069:D43V;ENSP00000428483:D31V;ENSP00000429091:D43V;ENSP00000428192:D31V	ENSP00000326997:D31V	D	-	2	0	ZFAT	135739054	0.998000	0.40836	0.964000	0.40570	0.992000	0.81027	4.249000	0.58766	2.174000	0.68829	0.533000	0.62120	GAT	ZFAT	-	NULL	ENSG00000066827		0.493	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	-	0.00	118	0	T	NM_001029939		135669872	-1	tier1	-	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	32.74	76	37	SNP	0.975	A
ZFP14	57677	genome.wustl.edu	37	19	36853058	36853058	+	Missense_Mutation	SNP	T	T	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:36853058T>C	ENST00000270001.7	-	3	207	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	ZFP14_ENST00000589280.1_Missense_Mutation_p.Y31C	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	31	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)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TACATCCCTATATAAGTCCCT	0.413																																																	0													111.0	102.0	105.0					19																	36853058		2203	4300	6503	SO:0001583	missense	0			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.92A>G	19.37:g.36853058T>C	ENSP00000270001:p.Tyr31Cys		A7MD23	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.Y31C	ENST00000270001.7	37	c.92	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406598	0.62399	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.07021	3.23	4.35	4.35	0.52113	Krueppel-associated box (4);	0.000000	0.38381	N	0.001705	T	0.32645	0.0836	M	0.89904	3.07	0.36880	D	0.889341	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45760	-0.9239	10	0.72032	D	0.01	.	10.0947	0.42469	0.0:0.0:0.0:1.0	.	31;31	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	C	31	ENSP00000270001:Y31C	ENSP00000270001:Y31C	Y	-	2	0	ZFP14	41544898	0.970000	0.33590	0.995000	0.50966	0.996000	0.88848	4.320000	0.59203	1.951000	0.56629	0.533000	0.62120	TAT	ZFP14	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000142065		0.413	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	-	0.00	91	0	T	NM_020917		36853058	-1	tier1	-	no_errors	ENST00000270001	ensembl	human	known	74_37	missense	6.01	266	17	SNP	0.991	C
ZKSCAN2	342357	genome.wustl.edu	37	16	25251879	25251879	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:25251879C>G	ENST00000328086.7	-	7	2965	c.2162G>C	c.(2161-2163)aGa>aCa	p.R721T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	721					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTTTCCCTGTCTAATTCCTTG	0.453																																																	0													109.0	98.0	102.0					16																	25251879		2197	4300	6497	SO:0001583	missense	0			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2162G>C	16.37:g.25251879C>G	ENSP00000331626:p.Arg721Thr		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R721T	ENST00000328086.7	37	c.2162	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115382	0.37339	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07567	3.18	5.41	4.46	0.54185	.	0.083149	0.52532	D	0.000070	T	0.17023	0.0409	M	0.72353	2.195	0.34509	D	0.706921	D;P	0.53619	0.961;0.799	P;B	0.49637	0.617;0.343	T	0.27673	-1.0067	10	0.52906	T	0.07	-24.6587	11.965	0.53029	0.0:0.9171:0.0:0.0829	.	517;721	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	T	721	ENSP00000331626:R721T	ENSP00000331626:R721T	R	-	2	0	ZKSCAN2	25159380	0.000000	0.05858	0.961000	0.40146	0.011000	0.07611	0.768000	0.26590	1.533000	0.49186	-0.140000	0.14226	AGA	ZKSCAN2	-	NULL	ENSG00000155592		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	-	0.00	56	0	C	NM_001012981		25251879	-1	tier1	-	no_errors	ENST00000328086	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.906	G
ZMYM6	9204	genome.wustl.edu	37	1	35472675	35472675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:35472675G>A	ENST00000357182.4	-	12	1917	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.R564*|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.R564*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	564					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTACCCTGTCGTTTACAACCA	0.333																																																	0													104.0	101.0	102.0					1																	35472675		2203	4300	6503	SO:0001587	stop_gained	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1690C>T	1.37:g.35472675G>A	ENSP00000349708:p.Arg564*		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Nonsense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.R564*	ENST00000357182.4	37	c.1690	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	G	40	7.982502	0.98594	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	.	.	.	5.02	4.04	0.47022	.	0.304513	0.31636	N	0.007319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4672	13.1682	0.59583	0.0:0.0:0.7872:0.2128	.	.	.	.	X	564	.	ENSP00000349708:R564X	R	-	1	2	ZMYM6	35245262	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.181000	0.42547	2.761000	0.94854	0.655000	0.94253	CGA	ZMYM6	-	smart_TRASH_dom	ENSG00000163867		0.333	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	-	0.00	84	0	G	NM_007167		35472675	-1	tier1	-	no_errors	ENST00000357182	ensembl	human	known	74_37	nonsense	17.35	81	17	SNP	0.935	A
ZMYM1	79830	genome.wustl.edu	37	1	35563128	35563128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:35563128C>A	ENST00000373330.1	+	5	554	c.380C>A	c.(379-381)tCa>tAa	p.S127*	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.S127*			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	127						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTGCCAGTTCACCAGTTCCT	0.383																																																	0													116.0	115.0	115.0					1																	35563128		2048	4225	6273	SO:0001587	stop_gained	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.380C>A	1.37:g.35563128C>A	ENSP00000362427:p.Ser127*		D3DPR7|Q7Z3Q4	Nonsense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.S127*	ENST00000373330.1	37	c.380	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.515975	0.96402	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	.	.	.	5.2	2.28	0.28536	.	1.022160	0.07840	N	0.962787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.022	8.324	0.32145	0.0:0.7304:0.1291:0.1405	.	.	.	.	X	127;127;52;127	.	ENSP00000352920:S127X	S	+	2	0	ZMYM1	35335715	0.000000	0.05858	0.003000	0.11579	0.800000	0.45204	0.445000	0.21677	0.421000	0.25980	0.655000	0.94253	TCA	ZMYM1	-	NULL	ENSG00000197056		0.383	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	-	0.00	81	0	C	NM_024772		35563128	+1	tier1	-	no_errors	ENST00000359858	ensembl	human	novel	74_37	nonsense	16.04	89	17	SNP	0.107	A
ZNF281	23528	genome.wustl.edu	37	1	200378496	200378496	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr1:200378496G>C	ENST00000294740.3	-	2	462	c.338C>G	c.(337-339)tCg>tGg	p.S113W	ZNF281_ENST00000367352.3_Missense_Mutation_p.S77W|ZNF281_ENST00000367353.1_Missense_Mutation_p.S113W	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	113					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGTCCTCTGCGAGGGGAAGGC	0.657																																																	0													6.0	6.0	6.0					1																	200378496		2086	4085	6171	SO:0001583	missense	0			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.338C>G	1.37:g.200378496G>C	ENSP00000294740:p.Ser113Trp		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S113W	ENST00000294740.3	37	c.338	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013856	0.54468	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.08282	3.11;3.11;3.12	5.09	4.17	0.49024	.	0.615366	0.13063	N	0.416698	T	0.03827	0.0108	N	0.08118	0	0.46167	D	0.998903	P;P	0.46987	0.888;0.888	B;B	0.31101	0.124;0.124	T	0.54309	-0.8313	10	0.39692	T	0.17	-12.9529	12.2014	0.54328	0.0801:0.0:0.9199:0.0	.	77;113	A6NF48;Q9Y2X9	.;ZN281_HUMAN	W	113;113;77	ENSP00000294740:S113W;ENSP00000356322:S113W;ENSP00000356321:S77W	ENSP00000294740:S113W	S	-	2	0	ZNF281	198645119	1.000000	0.71417	0.951000	0.38953	0.996000	0.88848	4.090000	0.57693	1.269000	0.44280	0.655000	0.94253	TCG	ZNF281	-	NULL	ENSG00000162702		0.657	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	-	0.00	99	0	G	NM_012482		200378496	-1	tier1	-	no_errors	ENST00000294740	ensembl	human	known	74_37	missense	25.00	63	21	SNP	0.961	C
ZNF385B	151126	genome.wustl.edu	37	2	180634307	180634307	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr2:180634307C>A	ENST00000410066.1	-	3	779	c.176G>T	c.(175-177)cGc>cTc	p.R59L		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	59	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACTCGTTTGCGGTGGGATTT	0.577																																					Colon(155;204 2491 32774 51842)												0													86.0	76.0	79.0					2																	180634307		2203	4300	6503	SO:0001583	missense	0			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.176G>T	2.37:g.180634307C>A	ENSP00000386845:p.Arg59Leu		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.R59L	ENST00000410066.1	37	c.176	CCDS33339.1	2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088417	0.36855	.	.	ENSG00000144331	ENST00000410066;ENST00000451732	T;T	0.47528	0.84;0.84	6.06	5.11	0.69529	Zinc finger, U1-type (1);	0.077905	0.52532	D	0.000071	T	0.14270	0.0345	N	0.00436	-1.5	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	10	0.07813	T	0.8	-8.922	11.5736	0.50848	0.3337:0.6663:0.0:0.0	.	59	Q569K4	Z385B_HUMAN	L	59	ENSP00000386845:R59L;ENSP00000409978:R59L	ENSP00000386845:R59L	R	-	2	0	ZNF385B	180342552	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.313000	0.51935	2.882000	0.98803	0.655000	0.94253	CGC	ZNF385B	-	smart_Znf_U1	ENSG00000144331		0.577	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	HGNC	protein_coding	OTTHUMT00000335972.1		0.00	43	0	C	NM_152520		180634307	-1			no_errors	ENST00000410066	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
ZNF410	57862	genome.wustl.edu	37	14	74371761	74371761	+	Silent	SNP	G	G	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr14:74371761G>A	ENST00000555044.1	+	7	1082	c.888G>A	c.(886-888)ctG>ctA	p.L296L	RP5-1021I20.4_ENST00000556551.2_3'UTR|RP5-1021I20.6_ENST00000602874.1_RNA|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_Silent_p.L243L|Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000324593.6_Silent_p.L296L|ZNF410_ENST00000442160.3_Silent_p.L313L|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000540593.1_Silent_p.L223L	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	296					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)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CTGGAAACCTGAAGAACCACC	0.527																																																	0													105.0	92.0	96.0					14																	74371761		2203	4300	6503	SO:0001819	synonymous_variant	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.888G>A	14.37:g.74371761G>A			B4DDV5|B4DR78|O00153|Q9BQ19	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L296	ENST00000555044.1	37	c.888	CCDS9821.1	14																																																																																			ZNF410	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000119725		0.527	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	-	0.00	90	0	G	NM_021188		74371761	+1	tier1	-	no_errors	ENST00000555044	ensembl	human	known	74_37	silent	8.96	122	12	SNP	1.000	A
ZNF44	51710	genome.wustl.edu	37	19	12383694	12383694	+	Missense_Mutation	SNP	T	T	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:12383694T>A	ENST00000356109.5	-	5	1638	c.1520A>T	c.(1519-1521)gAt>gTt	p.D507V	ZNF44_ENST00000355684.5_Missense_Mutation_p.D459V	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GGAAAATAAATCACTAAAAGC	0.373																																																	0													58.0	64.0	62.0					19																	12383694		2134	4261	6395	SO:0001583	missense	0			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1520A>T	19.37:g.12383694T>A	ENSP00000348419:p.Asp507Val		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	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.D507V	ENST00000356109.5	37	c.1520	CCDS54223.1	19	.	.	.	.	.	.	.	.	.	.	T	4.659	0.122541	0.08931	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.54675	0.56;0.56;0.56	0.846	-0.262	0.12958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35970	0.0950	N	0.16016	0.355	.	.	.	P;D	0.53151	0.673;0.958	P;P	0.51055	0.567;0.657	T	0.41070	-0.9529	8	0.15952	T	0.53	.	4.9025	0.13782	0.0:0.4103:0.0:0.5897	.	507;459	P15621;F8W7T7	ZNF44_HUMAN;.	V	507;507;459;459	ENSP00000377008:D507V;ENSP00000348419:D507V;ENSP00000347910:D459V	ENSP00000347910:D459V	D	-	2	0	ZNF44	12244694	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.692000	0.05127	-0.141000	0.11374	0.254000	0.18369	GAT	ZNF44	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197857		0.373	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF44	HGNC	protein_coding	OTTHUMT00000344132.1		0.00	53	0	T	NM_016264		12383694	-1			no_errors	ENST00000393337	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	A
ZNF568	374900	genome.wustl.edu	37	19	37488248	37488248	+	Missense_Mutation	SNP	G	G	T	rs148872903		TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:37488248G>T	ENST00000455427.2	+	9	1792	c.1463G>T	c.(1462-1464)cGa>cTa	p.R488L		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	519					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAACTTACCCGACATCAGAGA	0.438																																																	0																																										SO:0001583	missense	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1463G>T	19.37:g.37488248G>T	ENSP00000413396:p.Arg488Leu		B4DS92|E7ER33|Q6N060|Q8NA64	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.R488L	ENST00000455427.2	37	c.1463	CCDS56093.1	19	.	.	.	.	.	.	.	.	.	.	g	15.79	2.936775	0.52972	.	.	ENSG00000198453	ENST00000444991;ENST00000455427	T;T	0.26373	1.74;3.19	3.9	-2.01	0.07410	.	.	.	.	.	T	0.18467	0.0443	L	0.38838	1.175	0.09310	N	1	P;P	0.52577	0.954;0.954	P;P	0.44359	0.447;0.447	T	0.29458	-1.0011	9	0.20046	T	0.44	.	8.5649	0.33534	0.4786:0.0:0.5214:0.0	.	488;488	E7ER33;B4DS92	.;.	L	552;488	ENSP00000389794:R552L;ENSP00000413396:R488L	ENSP00000389794:R552L	R	+	2	0	ZNF568	42180088	0.000000	0.05858	0.004000	0.12327	0.963000	0.63663	-7.282000	0.00040	-0.121000	0.11787	0.603000	0.83216	CGA	ZNF568	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.438	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	-	0.00	71	0	G	NM_198539		37488248	+1	tier1	-	no_errors	ENST00000455427	ensembl	human	known	74_37	missense	20.00	52	13	SNP	0.001	T
ZNF624	57547	genome.wustl.edu	37	17	16527278	16527278	+	Missense_Mutation	SNP	C	C	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:16527278C>T	ENST00000311331.7	-	6	1013	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	308					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCCCACATTCATTACATTCA	0.358																																					NSCLC(186;1023 2134 13330 38202 39800)												0													102.0	104.0	103.0					17																	16527278		2203	4300	6503	SO:0001583	missense	0			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.922G>A	17.37:g.16527278C>T	ENSP00000310472:p.Glu308Lys		Q3SY62|Q3SY63|Q6ZN27	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.E308K	ENST00000311331.7	37	c.922	CCDS11180.1	17	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490305	0.44249	.	.	ENSG00000197566	ENST00000311331	T	0.07327	3.2	3.32	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	N	0.26130	0.795	0.19945	N	0.999945	B	0.15141	0.012	B	0.22753	0.041	T	0.32241	-0.9914	9	0.59425	D	0.04	.	10.5558	0.45117	0.0:0.8013:0.1987:0.0	.	308	Q9P2J8	ZN624_HUMAN	K	308	ENSP00000310472:E308K	ENSP00000310472:E308K	E	-	1	0	ZNF624	16468003	0.000000	0.05858	0.972000	0.41901	0.983000	0.72400	0.156000	0.16382	0.760000	0.33108	-0.216000	0.12614	GAA	ZNF624	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197566		0.358	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF624	HGNC	protein_coding	OTTHUMT00000130512.3	-	0.00	67	0	C	XM_047617		16527278	-1	tier1	-	no_errors	ENST00000311331	ensembl	human	known	74_37	missense	14.71	58	10	SNP	0.485	T
ZNF676	163223	genome.wustl.edu	37	19	22363402	22363402	+	Missense_Mutation	SNP	C	C	A			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:22363402C>A	ENST00000397121.2	-	3	1434	c.1117G>T	c.(1117-1119)Gcc>Tcc	p.A373S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTACTAAAGGCTTTGCCACAT	0.398																																																	0													81.0	87.0	85.0					19																	22363402		2154	4267	6421	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1117G>T	19.37:g.22363402C>A	ENSP00000380310:p.Ala373Ser		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A373S	ENST00000397121.2	37	c.1117	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	4.849	0.157802	0.09236	.	.	ENSG00000196109	ENST00000397121	T	0.13420	2.59	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	N	0.02315	-0.6	0.09310	N	0.999996	P	0.49783	0.928	P	0.46796	0.527	T	0.18777	-1.0326	9	0.56958	D	0.05	.	2.6274	0.04933	0.4902:0.2644:0.0:0.2454	.	373	Q8N7Q3	ZN676_HUMAN	S	373	ENSP00000380310:A373S	ENSP00000380310:A373S	A	-	1	0	ZNF676	22155242	0.000000	0.05858	0.021000	0.16686	0.021000	0.10359	-0.568000	0.05909	-1.206000	0.02641	-1.206000	0.01644	GCC	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0.00	84	0	C	NM_001001411		22363402	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	12.90	81	12	SNP	0.257	A
ZNF681	148213	genome.wustl.edu	37	19	23938284	23938284	+	Missense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:23938284G>C	ENST00000402377.3	-	2	214	c.73C>G	c.(73-75)Cag>Gag	p.Q25E	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	25	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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAATTCTGCTGTATAGTGTCC	0.403																																																	0													99.0	107.0	104.0					19																	23938284		2203	4300	6503	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.73C>G	19.37:g.23938284G>C	ENSP00000384000:p.Gln25Glu		B3KVF7	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.Q25E	ENST00000402377.3	37	c.73	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	4.668	0.124241	0.08931	.	.	ENSG00000196172	ENST00000402377	T	0.09073	3.02	1.05	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.27967	0.0689	M	0.93150	3.385	0.09310	N	0.999998	P	0.45212	0.853	P	0.56088	0.791	T	0.06862	-1.0803	9	0.72032	D	0.01	.	5.3007	0.15776	0.0:0.0:1.0:0.0	.	25	Q96N22	ZN681_HUMAN	E	25	ENSP00000384000:Q25E	ENSP00000384000:Q25E	Q	-	1	0	ZNF681	23730124	0.094000	0.21725	0.027000	0.17364	0.027000	0.11550	2.182000	0.42556	0.452000	0.26830	0.460000	0.39030	CAG	ZNF681	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196172		0.403	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0.00	133	0	G	NM_138286		23938284	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	17.69	121	26	SNP	0.032	C
ZNF720	124411	genome.wustl.edu	37	16	31765249	31765249	+	Intron	SNP	A	A	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr16:31765249A>G	ENST00000316491.9	+	4	560				ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000398696.3_Missense_Mutation_p.Y60C|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000399681.3_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						AATGGATATTATGATGGACAT	0.363																																																	0													84.0	74.0	77.0					16																	31765249		692	1591	2283	SO:0001627	intron_variant	0			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.361+28A>G	16.37:g.31765249A>G			Q6ZQX1	Missense_Mutation	SNP	NULL	p.Y60C	ENST00000316491.9	37	c.179	CCDS45473.1	16	.	.	.	.	.	.	.	.	.	.	a	3.251	-0.153163	0.06585	.	.	ENSG00000197302	ENST00000398696	T	0.03580	3.88	0.826	-0.368	0.12537	.	.	.	.	.	T	0.09992	0.0245	.	.	.	0.09310	N	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.23048	-1.0199	8	0.46703	T	0.11	.	2.9824	0.05957	0.6902:0.0:0.3098:0.0	.	60	Q7Z2F6-2	.	C	60	ENSP00000443758:Y60C	ENSP00000443758:Y60C	Y	+	2	0	ZNF720	31672750	0.165000	0.22948	0.004000	0.12327	0.019000	0.09904	0.606000	0.24194	-0.155000	0.11098	-0.584000	0.04131	TAT	ZNF720	-	NULL	ENSG00000197302		0.363	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	-	0.00	39	0	A	NM_001004300		31765249	+1	tier1	-	no_errors	ENST00000398696	ensembl	human	known	74_37	missense	21.54	51	14	SNP	0.008	G
ZNF750	79755	genome.wustl.edu	37	17	80790253	80790253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr17:80790253delT	ENST00000269394.3	-	2	911	c.78delA	c.(76-78)aaafs	p.K26fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	26					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATTGGAAACATTTATACTTGA	0.413																																																	0													96.0	104.0	101.0					17																	80790253		2203	4300	6503	SO:0001589	frameshift_variant	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.78delA	17.37:g.80790253delT	ENSP00000269394:p.Lys26fs		Q9H899	Frame_Shift_Del	DEL	NULL	p.K26fs	ENST00000269394.3	37	c.78	CCDS11819.1	17																																																																																			ZNF750	-	NULL	ENSG00000141579		0.413	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2		0.00	64	0	T	NM_024702		80790253	-1	tier1		no_errors	ENST00000269394	ensembl	human	known	74_37	frame_shift_del	31.15	42	19	DEL	1.000	-
ZNF90	7643	genome.wustl.edu	37	19	20229526	20229526	+	Missense_Mutation	SNP	A	A	T			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:20229526A>T	ENST00000418063.2	+	4	1275	c.1163A>T	c.(1162-1164)aAg>aTg	p.K388M	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	388					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TATAAACATAAGATAAGTCAT	0.363																																																	0													48.0	46.0	47.0					19																	20229526		692	1591	2283	SO:0001583	missense	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1163A>T	19.37:g.20229526A>T	ENSP00000410466:p.Lys388Met		B9EH87	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.K388M	ENST00000418063.2	37	c.1163	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	A	11.91	1.778661	0.31502	.	.	ENSG00000213988	ENST00000418063	T	0.12569	2.67	1.18	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04227	0.0117	N	0.01800	-0.715	0.22737	N	0.998795	B	0.17465	0.022	B	0.10450	0.005	T	0.45702	-0.9243	8	.	.	.	.	5.8608	0.18745	1.0:0.0:0.0:0.0	.	388	Q03938	ZNF90_HUMAN	M	388	ENSP00000410466:K388M	.	K	+	2	0	ZNF90	20090526	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-0.679000	0.05203	0.251000	0.21505	0.248000	0.18094	AAG	ZNF90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213988		0.363	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	-	0.00	75	0	A	NM_007138		20229526	+1	tier1	-	no_errors	ENST00000418063	ensembl	human	known	74_37	missense	7.37	88	7	SNP	0.990	T
ZNF91	7644	genome.wustl.edu	37	19	23544105	23544105	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:23544105G>C	ENST00000300619.7	-	4	1881	c.1676C>G	c.(1675-1677)tCa>tGa	p.S559*	ZNF91_ENST00000397082.2_Nonsense_Mutation_p.S527*|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	559					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTAAGGGTTGAGAATTGCTT	0.323																																																	0													39.0	41.0	41.0					19																	23544105		2112	4262	6374	SO:0001587	stop_gained	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1676C>G	19.37:g.23544105G>C	ENSP00000300619:p.Ser559*		A8K5E1|B7Z6G6	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.S559*	ENST00000300619.7	37	c.1676	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057964	0.55325	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	1.71	0.334	0.15948	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.1274	0.14892	0.0:0.2158:0.5673:0.2168	.	.	.	.	X	559;527	.	ENSP00000300619:S559X	S	-	2	0	ZNF91	23335945	0.000000	0.05858	0.011000	0.14972	0.040000	0.13550	-3.256000	0.00538	0.921000	0.36994	0.205000	0.17691	TCA	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.323	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	-	0.00	73	0	G	NM_003430		23544105	-1	tier1	-	no_errors	ENST00000300619	ensembl	human	known	74_37	nonsense	12.61	104	15	SNP	0.023	C
ZNF91	7644	genome.wustl.edu	37	19	23544477	23544477	+	Missense_Mutation	SNP	T	T	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:23544477T>G	ENST00000300619.7	-	4	1509	c.1304A>C	c.(1303-1305)aAg>aCg	p.K435T	ZNF91_ENST00000397082.2_Missense_Mutation_p.K403T|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	435					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTCTTCACACTTGTAAGGTTT	0.348																																																	0													20.0	21.0	21.0					19																	23544477		1987	4187	6174	SO:0001583	missense	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1304A>C	19.37:g.23544477T>G	ENSP00000300619:p.Lys435Thr		A8K5E1|B7Z6G6	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.K435T	ENST00000300619.7	37	c.1304	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	T	8.077	0.771581	0.16051	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.08458	3.09;3.09	1.47	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10423	0.0255	N	0.17838	0.53	0.09310	N	1	D;D	0.59767	0.969;0.986	P;P	0.59288	0.653;0.855	T	0.23440	-1.0188	9	0.56958	D	0.05	.	5.258	0.15558	0.0:0.0:0.2981:0.7019	.	403;435	Q05481-2;Q05481	.;ZNF91_HUMAN	T	435;403	ENSP00000300619:K435T;ENSP00000380272:K403T	ENSP00000300619:K435T	K	-	2	0	ZNF91	23336317	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.642000	0.05427	0.651000	0.30788	0.172000	0.16884	AAG	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.348	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	-	0.00	53	0	T	NM_003430		23544477	-1	tier1	-	no_errors	ENST00000300619	ensembl	human	known	74_37	missense	11.86	52	7	SNP	0.004	G
ZNF790	388536	genome.wustl.edu	37	19	37310963	37310963	+	Missense_Mutation	SNP	C	C	G			TCGA-Z6-A8JD-01A-11D-A36J-09	TCGA-Z6-A8JD-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8286ef82-5230-4709-98b7-cc61ceaa6126	e3d3acd9-944a-4f0c-be2f-3958b80e9a55	g.chr19:37310963C>G	ENST00000356725.4	-	5	403	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	95					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTTCTCTCTCAAAAATGCCA	0.358																																																	0													64.0	66.0	66.0					19																	37310963		2203	4300	6503	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.283G>C	19.37:g.37310963C>G	ENSP00000349161:p.Glu95Gln			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.E95Q	ENST00000356725.4	37	c.283	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287869	0.23478	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.05447	3.44;6.3;5.8	3.08	2.0	0.26442	.	.	.	.	.	T	0.06781	0.0173	L	0.59912	1.85	0.09310	N	1	B	0.34015	0.435	B	0.24269	0.052	T	0.24368	-1.0162	9	0.51188	T	0.08	.	8.0842	0.30762	0.0:0.7488:0.2512:0.0	.	95	Q6PG37	ZN790_HUMAN	Q	95	ENSP00000349161:E95Q;ENSP00000435944:E95Q;ENSP00000433389:E95Q	ENSP00000349161:E95Q	E	-	1	0	ZNF790	42002803	0.021000	0.18746	0.001000	0.08648	0.021000	0.10359	3.196000	0.51020	0.599000	0.29845	0.484000	0.47621	GAG	ZNF790	-	NULL	ENSG00000197863		0.358	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	-	0.00	87	0	C	NM_206894		37310963	-1	tier1	-	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	8.06	114	10	SNP	0.004	G
