#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_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ACOX3	8310	genome.wustl.edu	37	4	8396463	8396463	+	Missense_Mutation	SNP	G	G	A	rs149218868		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:8396463G>A	ENST00000356406.5	-	10	1140	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	ACOX3_ENST00000413009.2_Missense_Mutation_p.R355C|ACOX3_ENST00000503233.1_Missense_Mutation_p.R355C|RNA5SP152_ENST00000365184.1_RNA	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	355					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGAAGCAAGCGCCATTGCTAG	0.572																																																	0								G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	56.0	58.0		1063,1063	4.3	1.0	4	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	ACOX3	NM_001101667.1,NM_003501.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	355/625,355/701	8396463	1,13005	2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1063C>T	4.37:g.8396463G>A	ENSP00000348775:p.Arg355Cys		Q96AJ8	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.R355C	ENST00000356406.5	37	c.1063	CCDS3401.1	4	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141994	0.57044	2.27E-4	0.0	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.96651	-4.08;-4.08;-4.08	4.31	4.31	0.51392	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.97758	4.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99338	1.0911	10	0.87932	D	0	-38.804	16.0751	0.80962	0.0:0.0:1.0:0.0	.	355;355;355	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	C	355	ENSP00000413994:R355C;ENSP00000348775:R355C;ENSP00000421625:R355C	ENSP00000348775:R355C	R	-	1	0	ACOX3	8447363	1.000000	0.71417	0.996000	0.52242	0.067000	0.16453	7.991000	0.88244	2.395000	0.81488	0.650000	0.86243	CGC	ACOX3	-	pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.572	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	HGNC	protein_coding	OTTHUMT00000206997.4	G			8396463	-1	no_errors	ENST00000356406	ensembl	human	known	70_37	missense	SNP	1.000	A
ACPT	93650	genome.wustl.edu	37	19	51298351	51298351	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:51298351G>C	ENST00000270593.1	+	11	1217	c.1217G>C	c.(1216-1218)aGc>aCc	p.S406T	ACPT_ENST00000270594.3_Missense_Mutation_p.S313T|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	406						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTGGCACTCAGCTTGGGGCTG	0.692																																																	0													16.0	16.0	16.0					19																	51298351		2182	4273	6455	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.1217G>C	19.37:g.51298351G>C	ENSP00000270593:p.Ser406Thr		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.S313T	ENST00000270593.1	37	c.938	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	g	12.11	1.839972	0.32513	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.12255	2.9;2.7	4.14	4.14	0.48551	.	1.564480	0.04659	N	0.408559	T	0.11324	0.0276	L	0.36672	1.1	0.26560	N	0.973743	B	0.31318	0.319	B	0.24269	0.052	T	0.24693	-1.0153	10	0.02654	T	1	-29.2977	12.3028	0.54884	0.0:0.0:1.0:0.0	.	406	Q9BZG2	PPAT_HUMAN	T	406;313	ENSP00000270593:S406T;ENSP00000270594:S313T	ENSP00000270593:S406T	S	+	2	0	ACPT	55990163	0.182000	0.23173	0.322000	0.25334	0.077000	0.17291	2.184000	0.42575	2.037000	0.60232	0.561000	0.74099	AGC	ACPT	-	NULL		0.692	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	G	NM_033068		51298351	+1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	0.914	C
ADAM9	8754	genome.wustl.edu	37	8	38884227	38884227	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr8:38884227C>T	ENST00000487273.2	+	11	1106	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	343	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACATTTGCTTCCATTGTTGCT	0.403																																																	0													220.0	197.0	204.0					8																	38884227		2203	4300	6503	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1028C>T	8.37:g.38884227C>T	ENSP00000419446:p.Ser343Phe		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.S343F	ENST00000487273.2	37	c.1028	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720260	0.89205	.	.	ENSG00000168615	ENST00000487273	T	0.63417	-0.04	5.44	5.44	0.79542	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.051001	0.85682	D	0.000000	T	0.69477	0.3115	L	0.37800	1.135	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.61347	-0.7081	10	0.08179	T	0.78	.	19.2591	0.93961	0.0:1.0:0.0:0.0	.	343	Q13443	ADAM9_HUMAN	F	343	ENSP00000419446:S343F	ENSP00000369249:S343F	S	+	2	0	ADAM9	39003384	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.440000	0.80464	2.542000	0.85734	0.460000	0.39030	TCC	ADAM9	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.403	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	C			38884227	+1	no_errors	ENST00000487273	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTS16	170690	genome.wustl.edu	37	5	5239294	5239294	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr5:5239294G>C	ENST00000274181.7	+	15	2323	c.2185G>C	c.(2185-2187)Gat>Cat	p.D729H	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	729	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCTTGGATCTGATGCTGTTGA	0.498																																																	0													295.0	283.0	287.0					5																	5239294		2041	4186	6227	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2185G>C	5.37:g.5239294G>C	ENSP00000274181:p.Asp729His		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D729H	ENST00000274181.7	37	c.2185	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494764	0.64186	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.68181	-0.31	5.85	2.74	0.32292	.	0.653737	0.14948	N	0.289097	T	0.71745	0.3376	M	0.83774	2.66	0.23325	N	0.9979	P;P	0.44521	0.761;0.837	B;P	0.49276	0.365;0.605	T	0.63189	-0.6693	10	0.54805	T	0.06	.	5.5117	0.16884	0.4877:0.0:0.5123:0.0	.	729;729	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	729	ENSP00000274181:D729H	ENSP00000274181:D729H	D	+	1	0	ADAMTS16	5292294	0.011000	0.17503	0.161000	0.22692	0.974000	0.67602	2.014000	0.40951	0.815000	0.34398	0.655000	0.94253	GAT	ADAMTS16	-	prints_Peptidase_M12B_ADAM-TS		0.498	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5239294	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.497	C
ADCK3	56997	genome.wustl.edu	37	1	227149078	227149078	+	5'UTR	SNP	C	C	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:227149078C>A	ENST00000366779.1	+	0	2763				ADCK3_ENST00000366777.3_5'UTR|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3						cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TCTCTTCCAGCCCTGAAGGAT	0.602																																																	0													38.0	40.0	39.0					1																	227149078		2203	4300	6503	SO:0001623	5_prime_UTR_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.-9C>A	1.37:g.227149078C>A			Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	RNA	SNP	-	NULL	ENST00000366779.1	37	NULL	CCDS1557.1	1																																																																																			ADCK3	-	-		0.602	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	C	NM_020247		227149078	+1	no_errors	ENST00000489044	ensembl	human	known	70_37	rna	SNP	0.946	A
AFG3L1P	172	genome.wustl.edu	37	16	90059199	90059199	+	RNA	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr16:90059199C>T	ENST00000437774.1	+	0	1040					NR_003226.1				AFG3-like AAA ATPase 1, pseudogene																		ACCCGGCCCTCATGCGGCCTG	0.582																																																	0													36.0	39.0	38.0					16																	90059199		692	1591	2283			172			AJ001495		16q24.3	2013-10-17	2013-10-17	2010-10-28	ENSG00000223959	ENSG00000223959		"""ATPases / AAA-type"""	314	pseudogene	pseudogene		603020	"""AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene"", ""AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene"""	AFG3, AFG3L1		9545647, 11549317	Standard	NR_003228		Approved		uc002fpz.1		OTTHUMG00000138987		16.37:g.90059199C>T				RNA	SNP	-	NULL	ENST00000437774.1	37	NULL		16																																																																																			AFG3L1P	-	-		0.582	AFG3L1P-004	KNOWN	basic	processed_transcript	AFG3L1P	HGNC	pseudogene	OTTHUMT00000316791.1	C	NR_003226		90059199	+1	no_errors	ENST00000388970	ensembl	human	known	70_37	rna	SNP	1.000	T
AFTPH	54812	genome.wustl.edu	37	2	64780340	64780340	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:64780340G>A	ENST00000422803.1	+	2	2046	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	AFTPH_ENST00000409933.1_Missense_Mutation_p.E578K|AFTPH_ENST00000238855.7_Missense_Mutation_p.E578K|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238856.4_Missense_Mutation_p.E578K|AFTPH_ENST00000409183.1_Missense_Mutation_p.E209K			Q6ULP2	AFTIN_HUMAN	aftiphilin	578					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTTTGAGGATGAACAAAAAGA	0.428																																																	0													96.0	94.0	94.0					2																	64780340		2203	4300	6503	SO:0001583	missense	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1732G>A	2.37:g.64780340G>A	ENSP00000397726:p.Glu578Lys		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	NULL	p.E578K	ENST00000422803.1	37	c.1732		2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266983	0.59540	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.49720	1.75;1.75;1.75;1.75;0.77	6.16	6.16	0.99307	.	0.311989	0.34580	N	0.003850	T	0.54615	0.1869	L	0.57536	1.79	0.46631	D	0.999137	B;B;B;B	0.34329	0.277;0.449;0.277;0.449	B;B;B;B	0.40444	0.203;0.329;0.203;0.26	T	0.46048	-0.9219	10	0.38643	T	0.18	-2.3328	20.8598	0.99761	0.0:0.0:1.0:0.0	.	578;578;578;578	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	K	578;578;578;578;209	ENSP00000238856:E578K;ENSP00000397726:E578K;ENSP00000238855:E578K;ENSP00000387071:E578K;ENSP00000386913:E209K	ENSP00000238855:E578K	E	+	1	0	AFTPH	64633844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.360000	0.79487	2.937000	0.99478	0.650000	0.86243	GAA	AFTPH	-	NULL		0.428	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		G	NM_017657		64780340	+1	no_errors	ENST00000422803	ensembl	human	known	70_37	missense	SNP	1.000	A
AGL	178	genome.wustl.edu	37	1	100336057	100336057	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:100336057C>T	ENST00000294724.4	+	6	1244	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C	AGL_ENST00000361522.4_Missense_Mutation_p.R239C|AGL_ENST00000361915.3_Missense_Mutation_p.R256C|AGL_ENST00000370161.2_Missense_Mutation_p.R240C|AGL_ENST00000361302.3_Missense_Mutation_p.R240C|AGL_ENST00000370163.3_Missense_Mutation_p.R256C|AGL_ENST00000370165.3_Missense_Mutation_p.R256C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	256					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGCACTTTGGCGTTTCTCCTG	0.403																																																	0													103.0	102.0	103.0					1																	100336057		2203	4300	6503	SO:0001583	missense	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.766C>T	1.37:g.100336057C>T	ENSP00000294724:p.Arg256Cys		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.R256C	ENST00000294724.4	37	c.766	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	c	17.30	3.355072	0.61293	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.37	5.37	0.77165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.103999	0.64402	D	0.000003	T	0.76941	0.4058	N	0.19112	0.55	0.50813	D	0.999892	B;P;P	0.41188	0.002;0.741;0.624	B;P;B	0.44990	0.01;0.466;0.164	T	0.81272	-0.1008	10	0.62326	D	0.03	.	19.4745	0.94982	0.0:1.0:0.0:0.0	.	239;240;256	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	C	256;256;256;256;240;240;239	ENSP00000355106:R256C;ENSP00000359184:R256C;ENSP00000359182:R256C;ENSP00000294724:R256C;ENSP00000354971:R240C;ENSP00000359180:R240C;ENSP00000354635:R239C	ENSP00000294724:R256C	R	+	1	0	AGL	100108645	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	5.992000	0.70609	2.677000	0.91161	0.585000	0.79938	CGT	AGL	-	superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met		0.403	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	C	NM_000028		100336057	+1	no_errors	ENST00000294724	ensembl	human	known	70_37	missense	SNP	1.000	T
AKAP8L	26993	genome.wustl.edu	37	19	15510182	15510182	+	Missense_Mutation	SNP	C	C	T	rs570266491		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:15510182C>T	ENST00000397410.5	-	9	1218	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	AKAP8L_ENST00000595465.2_Missense_Mutation_p.R302H|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	363						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGCAACTTGCGCTTGGTCTG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20542	0.0		0.0	False		,,,				2504	0.001																0													169.0	167.0	168.0					19																	15510182		2105	4223	6328	SO:0001583	missense	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1088G>A	19.37:g.15510182C>T	ENSP00000380557:p.Arg363His		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	pfam_AKAP95	p.R363H	ENST00000397410.5	37	c.1088	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730714	0.48939	.	.	ENSG00000011243	ENST00000397410	T	0.52057	0.68	5.43	3.32	0.38043	.	0.436418	0.23750	N	0.044926	T	0.31702	0.0805	N	0.22421	0.69	0.24165	N	0.995649	B;B	0.15473	0.013;0.013	B;B	0.10450	0.005;0.003	T	0.22382	-1.0218	10	0.52906	T	0.07	-9.587	8.562	0.33516	0.0:0.7605:0.0:0.2395	.	302;363	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	H	363	ENSP00000380557:R363H	ENSP00000380557:R363H	R	-	2	0	AKAP8L	15371182	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.451000	0.35145	0.684000	0.31448	0.561000	0.74099	CGC	AKAP8L	-	NULL		0.597	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	C	NM_014371		15510182	-1	no_errors	ENST00000397410	ensembl	human	known	70_37	missense	SNP	1.000	T
ARF3	377	genome.wustl.edu	37	12	49332475	49332475	+	3'UTR	SNP	G	G	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:49332475G>T	ENST00000256682.4	-	0	1135				AC073610.5_ENST00000537495.1_Intron|ARF3_ENST00000541967.1_5'Flank|RP11-302B13.5_ENST00000398092.4_Intron|ARF3_ENST00000447318.2_3'UTR	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3						GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						GCCACCCCATGAAACCGTAAC	0.473																																					Pancreas(189;1862 2134 4419 30933 49364)												0																																										SO:0001624	3_prime_UTR_variant	377			M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"""ADP-ribosylation factors"""	654	protein-coding gene	gene with protein product	"""small GTP binding protein"""	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.*255C>A	12.37:g.49332475G>T			A8K6G8|B7ZB63|P16587	RNA	SNP	-	NULL	ENST00000256682.4	37	NULL	CCDS8774.1	12																																																																																			ARF3	-	-		0.473	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF3	HGNC	protein_coding	OTTHUMT00000258242.2	G	NM_001659		49332475	-1	no_errors	ENST00000485410	ensembl	human	known	70_37	rna	SNP	1.000	T
ASAP1	50807	genome.wustl.edu	37	8	131127903	131127903	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr8:131127903C>G	ENST00000518721.1	-	23	2370	c.2143G>C	c.(2143-2145)Gat>Cat	p.D715H	ASAP1_ENST00000357668.1_Missense_Mutation_p.D715H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	715					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCGCTCTCATCTATCTCCTCC	0.433																																																	0													323.0	277.0	292.0					8																	131127903		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2143G>C	8.37:g.131127903C>G	ENSP00000429900:p.Asp715His		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.D715H	ENST00000518721.1	37	c.2143	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.967521|4.967521	0.92855|0.92855	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.07908|.	3.15;3.15|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.285799|.	0.37348|.	N|.	0.002140|.	T|T	0.77350|0.77350	0.4117|0.4117	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.998;1.0|.	D;D;D|.	0.91635|.	0.928;0.928;0.999|.	T|T	0.77765|0.77765	-0.2465|-0.2465	10|5	0.72032|.	D|.	0.01|.	.|.	18.0242|18.0242	0.89263|0.89263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	715;715;718|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	H|T	718;715;715|535;128	ENSP00000350297:D715H;ENSP00000429900:D715H|.	ENSP00000344591:D718H|.	D|R	-|-	1|2	0|0	ASAP1|ASAP1	131197085|131197085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.729000|7.729000	0.84864|0.84864	2.581000|2.581000	0.87130|0.87130	0.650000|0.650000	0.86243|0.86243	GAT|AGA	ASAP1	-	NULL		0.433	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	C	NM_018482		131127903	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP5D	513	genome.wustl.edu	37	19	1242530	1242530	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:1242530C>T	ENST00000215375.2	+	2	318	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	ATP5D_ENST00000395633.1_Missense_Mutation_p.H73Y|ATP5D_ENST00000591660.1_Missense_Mutation_p.H73Y	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	73					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to copper ion (GO:0046688)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(1)	1		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)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTGGCGGCCCACGTGCCCAC	0.657																																																	0													18.0	14.0	16.0					19																	1242530		2153	4218	6371	SO:0001583	missense	513			X63423	CCDS12058.1	19p13.3	2012-10-12			ENSG00000099624	ENSG00000099624		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	837	protein-coding gene	gene with protein product		603150				1531933	Standard	NM_001687		Approved		uc002lro.3	P30049		ENST00000215375.2:c.217C>T	19.37:g.1242530C>T	ENSP00000215375:p.His73Tyr		D6W5Y3|Q6FG90	Missense_Mutation	SNP	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu	p.H73Y	ENST00000215375.2	37	c.217	CCDS12058.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.409910	0.96072	.	.	ENSG00000099624	ENST00000215375;ENST00000395633	.	.	.	5.12	5.12	0.69794	ATPase, F1 complex, delta/epsilon subunit, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.91257	0.7244	H	0.99391	4.545	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.94977	0.8122	9	0.87932	D	0	-12.6787	16.0299	0.80570	0.0:1.0:0.0:0.0	.	73	P30049	ATPD_HUMAN	Y	73	.	ENSP00000215375:H73Y	H	+	1	0	ATP5D	1193530	1.000000	0.71417	0.749000	0.31150	0.584000	0.36387	7.389000	0.79806	2.371000	0.80710	0.462000	0.41574	CAC	ATP5D	-	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu		0.657	ATP5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5D	HGNC	protein_coding	OTTHUMT00000449958.1	C	NM_001687		1242530	+1	no_errors	ENST00000215375	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC60	160777	genome.wustl.edu	37	12	119772968	119772968	+	5'UTR	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:119772968G>A	ENST00000327554.2	+	0	452				CCDC60_ENST00000539847.1_5'UTR|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_5'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60											endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCTAAAACCTGAAGGATTTTT	0.493																																																	0													57.0	64.0	62.0					12																	119772968		2203	4300	6503	SO:0001623	5_prime_UTR_variant	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.-14G>A	12.37:g.119772968G>A				RNA	SNP	-	NULL	ENST00000327554.2	37	NULL	CCDS9190.1	12																																																																																			CCDC60	-	-		0.493	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	G	NM_178499		119772968	+1	no_errors	ENST00000546345	ensembl	human	known	70_37	rna	SNP	0.010	A
CDK5RAP2	55755	genome.wustl.edu	37	9	123202133	123202133	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:123202133G>A	ENST00000349780.4	-	24	3445	c.3266C>T	c.(3265-3267)tCt>tTt	p.S1089F	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1089F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1048F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1057F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1089	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GACTTTAGCAGAAGGCTGACT	0.433																																																	0													92.0	84.0	87.0					9																	123202133		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3266C>T	9.37:g.123202133G>A	ENSP00000343818:p.Ser1089Phe		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.S1089F	ENST00000349780.4	37	c.3266	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560310	0.45590	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.43688	2.52;3.06;2.65;2.55;0.94;1.21	5.67	5.67	0.87782	.	0.095175	0.47093	D	0.000244	T	0.54334	0.1852	L	0.36672	1.1	0.33000	D	0.526115	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.977;0.977;0.977;0.999;0.95;0.977	T	0.64846	-0.6311	10	0.87932	D	0	.	13.563	0.61802	0.0:0.0:0.8452:0.1548	.	99;858;1057;1089;1089;483	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	F	1057;1048;1089;1089;483;99;861	ENSP00000354065:S1057F;ENSP00000352258:S1048F;ENSP00000343818:S1089F;ENSP00000353317:S1089F;ENSP00000400395:S483F;ENSP00000409941:S99F	ENSP00000341695:S861F	S	-	2	0	CDK5RAP2	122241954	1.000000	0.71417	0.950000	0.38849	0.225000	0.24961	4.466000	0.60148	2.667000	0.90743	0.563000	0.77884	TCT	CDK5RAP2	-	NULL		0.433	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	G	NM_018249		123202133	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	0.920	A
CEP164	22897	genome.wustl.edu	37	11	117278703	117278703	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr11:117278703G>C	ENST00000278935.3	+	28	3711	c.3564G>C	c.(3562-3564)aaG>aaC	p.K1188N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1188					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGCTGAAGAAGAAAGAGGAGA	0.537																																																	0													100.0	81.0	88.0					11																	117278703		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3564G>C	11.37:g.117278703G>C	ENSP00000278935:p.Lys1188Asn		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.K1188N	ENST00000278935.3	37	c.3564	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693926	0.30052	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.34667	1.35	5.17	4.01	0.46588	.	0.000000	0.49916	D	0.000125	T	0.54062	0.1835	M	0.71581	2.175	0.35444	D	0.795152	D;D;D	0.71674	0.998;0.996;0.996	D;P;P	0.66979	0.948;0.876;0.876	T	0.65590	-0.6131	10	0.72032	D	0.01	-30.1599	10.3212	0.43767	0.1326:0.0:0.8674:0.0	.	962;1188;1191	Q9NTH6;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	N	1188;1099	ENSP00000278935:K1188N	ENSP00000278935:K1188N	K	+	3	2	CEP164	116783913	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	3.776000	0.55356	2.560000	0.86352	0.591000	0.81541	AAG	CEP164	-	NULL		0.537	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	G	NM_014956		117278703	+1	no_errors	ENST00000278935	ensembl	human	known	70_37	missense	SNP	1.000	C
COG2	22796	genome.wustl.edu	37	1	230827303	230827303	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:230827303G>A	ENST00000366669.4	+	17	2223	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	COG2_ENST00000535166.1_Missense_Mutation_p.G587E|COG2_ENST00000534989.1_Missense_Mutation_p.G644E|COG2_ENST00000366668.3_Missense_Mutation_p.G702E|COG2_ENST00000546013.1_Missense_Mutation_p.G392E	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	703					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGTACTTGGGAGAGCAGGTA	0.592																																																	0													72.0	70.0	71.0					1																	230827303		2203	4300	6503	SO:0001583	missense	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.2108G>A	1.37:g.230827303G>A	ENSP00000355629:p.Gly703Glu		Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.G703E	ENST00000366669.4	37	c.2108	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572195	0.65765	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.50277	1.77;1.74;1.77;1.78;0.75	5.59	4.62	0.57501	.	0.046970	0.85682	D	0.000000	T	0.61148	0.2324	M	0.65975	2.015	0.80722	D	1	D;D	0.62365	0.986;0.991	P;P	0.61800	0.839;0.894	T	0.55418	-0.8144	10	0.21014	T	0.42	-26.1394	14.9171	0.70807	0.0:0.0:0.8562:0.1438	.	702;703	Q86U99;Q14746	.;COG2_HUMAN	E	703;587;702;644;392	ENSP00000355629:G703E;ENSP00000445724:G587E;ENSP00000355628:G702E;ENSP00000440349:G644E;ENSP00000442147:G392E	ENSP00000355628:G702E	G	+	2	0	COG2	228893926	1.000000	0.71417	0.993000	0.49108	0.216000	0.24613	7.661000	0.83786	2.648000	0.89879	0.561000	0.74099	GGA	COG2	-	NULL		0.592	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	G	NM_007357		230827303	+1	no_errors	ENST00000366669	ensembl	human	known	70_37	missense	SNP	1.000	A
CRYBA4	1413	genome.wustl.edu	37	22	27019213	27019213	+	Missense_Mutation	SNP	G	G	A	rs148346157		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr22:27019213G>A	ENST00000354760.3	+	3	90	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	19	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGTGTGGGATGAGGACGGCTT	0.607																																																	0								G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	90.0	101.0	97.0		55	0.9	0.6	22	dbSNP_134	97	0,8600		0,0,4300	no	missense	CRYBA4	NM_001886.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	19/197	27019213	1,13005	2203	4300	6503	SO:0001583	missense	1413				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.55G>A	22.37:g.27019213G>A	ENSP00000346805:p.Glu19Lys		Q4VB22|Q6ICE4	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E19K	ENST00000354760.3	37	c.55	CCDS13841.1	22	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873576	0.72180	2.27E-4	0.0	ENSG00000196431	ENST00000354760	T	0.75704	-0.96	4.44	0.866	0.19079	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.122258	0.52532	D	0.000065	T	0.78329	0.4266	L	0.28458	0.855	0.52099	D	0.999943	B	0.25904	0.137	P	0.53518	0.728	T	0.78489	-0.2184	10	0.66056	D	0.02	.	13.7243	0.62748	0.0:0.4589:0.5411:0.0	.	19	P53673	CRBA4_HUMAN	K	19	ENSP00000346805:E19K	ENSP00000346805:E19K	E	+	1	0	CRYBA4	25349213	0.922000	0.31269	0.554000	0.28268	0.980000	0.70556	1.242000	0.32755	0.486000	0.27676	-0.156000	0.13503	GAG	CRYBA4	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.607	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA4	HGNC	protein_coding	OTTHUMT00000320793.1	G	NM_001886		27019213	+1	no_errors	ENST00000354760	ensembl	human	known	70_37	missense	SNP	0.406	A
CSTF2	1478	genome.wustl.edu	37	X	100081733	100081733	+	Silent	SNP	C	C	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:100081733C>A	ENST00000372972.2	+	7	829	c.813C>A	c.(811-813)tcC>tcA	p.S271S	CSTF2_ENST00000415585.2_Silent_p.S271S	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	271	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GCCCTGGTTCCTTAGCTCCTG	0.493																																																	0													95.0	69.0	78.0					X																	100081733		2203	4300	6503	SO:0001819	synonymous_variant	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.813C>A	X.37:g.100081733C>A			Q5H951|Q6LA74|Q8N502	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S271	ENST00000372972.2	37	c.813	CCDS14473.1	X																																																																																			CSTF2	-	NULL		0.493	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	C	NM_001325		100081733	+1	no_errors	ENST00000415585	ensembl	human	known	70_37	silent	SNP	1.000	A
DAGLB	221955	genome.wustl.edu	37	7	6474474	6474474	+	Silent	SNP	G	G	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:6474474G>T	ENST00000297056.6	-	4	766	c.597C>A	c.(595-597)ctC>ctA	p.L199L	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000428902.2_Silent_p.L72L|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Silent_p.L158L	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	199					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AACAGCACAAGAGCTTGATTC	0.512																																																	0													175.0	167.0	170.0					7																	6474474		2203	4300	6503	SO:0001819	synonymous_variant	221955			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.597C>A	7.37:g.6474474G>T			A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	pfam_Lipase_3	p.L199	ENST00000297056.6	37	c.597	CCDS5350.1	7																																																																																			DAGLB	-	NULL		0.512	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	HGNC	protein_coding	OTTHUMT00000246840.2	G	NM_139179		6474474	-1	no_errors	ENST00000297056	ensembl	human	known	70_37	silent	SNP	0.000	T
DCLK2	166614	genome.wustl.edu	37	4	151169505	151169505	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:151169505G>A	ENST00000296550.7	+	14	2678	c.1924G>A	c.(1924-1926)Gcg>Acg	p.A642T	DCLK2_ENST00000302176.8_Missense_Mutation_p.A659T|DCLK2_ENST00000506325.1_Missense_Mutation_p.A641T	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	642	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCGGTGTACCGCGGGACAAAT	0.493																																					GBM(195;186 2215 13375 16801 37459)												0													111.0	105.0	107.0					4																	151169505		2203	4300	6503	SO:0001583	missense	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1924G>A	4.37:g.151169505G>A	ENSP00000296550:p.Ala642Thr		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.A659T	ENST00000296550.7	37	c.1975	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.581177	0.96565	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.48522	0.81;0.81;0.81	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.969;0.996;0.987	T	0.77550	-0.2546	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	659;641;642	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	T	642;641;659	ENSP00000296550:A642T;ENSP00000427235:A641T;ENSP00000303887:A659T	ENSP00000296550:A642T	A	+	1	0	DCLK2	151388955	1.000000	0.71417	0.930000	0.37139	0.992000	0.81027	9.202000	0.95026	2.941000	0.99782	0.655000	0.94253	GCG	DCLK2	-	pfam_Prot_kinase_cat_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_cat_dom		0.493	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	G	NM_001040260		151169505	+1	no_errors	ENST00000302176	ensembl	human	known	70_37	missense	SNP	1.000	A
DDHD2	23259	genome.wustl.edu	37	8	38099759	38099759	+	Intron	SNP	C	C	G			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr8:38099759C>G	ENST00000397166.2	+	7	1237				DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Intron	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2						cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGTTAATTTTCTTTTCCAGTT	0.333																																																	0													60.0	60.0	60.0					8																	38099759		2203	4300	6503	SO:0001627	intron_variant	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.713-9C>G	8.37:g.38099759C>G			B3KWV2|B3KXB5|Q9H8X7	RNA	SNP	-	NULL	ENST00000397166.2	37	NULL	CCDS34883.1	8																																																																																			DDHD2	-	-		0.333	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	HGNC	protein_coding	OTTHUMT00000377251.2	C	XM_291291		38099759	+1	no_errors	ENST00000528888	ensembl	human	known	70_37	rna	SNP	0.991	G
DIAPH2	1730	genome.wustl.edu	37	X	96171543	96171543	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:96171543C>T	ENST00000324765.8	+	8	1186	c.839C>T	c.(838-840)tCt>tTt	p.S280F	DIAPH2_ENST00000373061.3_Missense_Mutation_p.S280F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S280F|DIAPH2_ENST00000355827.4_Missense_Mutation_p.S280F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.S276F			O60879	DIAP2_HUMAN	diaphanous-related formin 2	280	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAAATACTTTCTGCTATTTGC	0.318																																																	0													64.0	57.0	60.0					X																	96171543		2203	4293	6496	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.839C>T	X.37:g.96171543C>T	ENSP00000321348:p.Ser280Phe		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.S280F	ENST00000324765.8	37	c.839	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665476	0.67700	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	D	0.95601	0.8570	M	0.80746	2.51	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96047	0.9028	10	0.87932	D	0	.	18.453	0.90711	0.0:1.0:0.0:0.0	.	280;280;287	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	F	280;276;280;280;280;287	ENSP00000362152:S280F;ENSP00000362145:S276F;ENSP00000348082:S280F;ENSP00000362140:S280F;ENSP00000321348:S280F	ENSP00000321348:S280F	S	+	2	0	DIAPH2	96058199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.300000	0.77407	0.544000	0.68410	TCT	DIAPH2	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.318	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309		96171543	+1	no_errors	ENST00000324765	ensembl	human	known	70_37	missense	SNP	1.000	T
DNASE1L1	1774	genome.wustl.edu	37	X	153631423	153631423	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:153631423C>T	ENST00000393638.1	-	7	920	c.634G>A	c.(634-636)Gat>Aat	p.D212N	SNORA70_ENST00000384436.1_RNA|DNASE1L1_ENST00000369809.1_Missense_Mutation_p.D212N	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	212					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTCCCCATCGGCAATCACC	0.642																																																	0													58.0	56.0	57.0					X																	153631423		2203	4300	6503	SO:0001583	missense	1774			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.634G>A	X.37:g.153631423C>T	ENSP00000377255:p.Asp212Asn		D3DWW7|Q5HY41	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.D212N	ENST00000393638.1	37	c.634	CCDS14747.1	X	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958374	0.92726	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.11	5.11	0.69529	Endonuclease/exonuclease/phosphatase (2);	0.050660	0.85682	D	0.000000	T	0.65375	0.2685	M	0.77820	2.39	0.46954	D	0.999262	D	0.89917	1.0	D	0.80764	0.994	T	0.70608	-0.4825	10	0.87932	D	0	-10.9846	14.9165	0.70801	0.0:1.0:0.0:0.0	.	212	P49184	DNSL1_HUMAN	N	212	ENSP00000358824:D212N;ENSP00000377255:D212N;ENSP00000014935:D212N;ENSP00000358823:D212N;ENSP00000358822:D212N;ENSP00000309168:D212N	ENSP00000014935:D212N	D	-	1	0	DNASE1L1	153284617	0.999000	0.42202	0.019000	0.16419	0.735000	0.41995	4.794000	0.62482	2.106000	0.64143	0.597000	0.82753	GAT	DNASE1L1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk		0.642	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	C			153631423	-1	no_errors	ENST00000014935	ensembl	human	known	70_37	missense	SNP	0.927	T
DSCAM	1826	genome.wustl.edu	37	21	41385099	41385099	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr21:41385099G>A	ENST00000400454.1	-	33	6378	c.5901C>T	c.(5899-5901)gcC>gcT	p.A1967A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1967				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1967A(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGTGGCCACGGCCCCCGGCT	0.652																																					Melanoma(134;970 1778 1785 21664 32388)												3	Substitution - coding silent(3)	lung(1)|kidney(1)|endometrium(1)											27.0	29.0	28.0					21																	41385099		1931	4140	6071	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5901C>T	21.37:g.41385099G>A			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1967	ENST00000400454.1	37	c.5901	CCDS42929.1	21																																																																																			DSCAM	-	NULL		0.652	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41385099	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	silent	SNP	0.998	A
ELOVL5	60481	genome.wustl.edu	37	6	53213754	53213754	+	5'UTR	SNP	C	C	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr6:53213754C>A	ENST00000304434.6	-	0	51				ELOVL5_ENST00000370913.5_5'Flank|ELOVL5_ENST00000542638.1_5'Flank|ELOVL5_ENST00000370918.4_5'UTR|RP3-483K16.4_ENST00000605281.1_lincRNA|ELOVL5_ENST00000541407.1_5'Flank|ELOVL5_ENST00000486973.1_5'Flank			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AAGAGGAAGGCGCCGGCTATC	0.647																																																	0																																										SO:0001623	5_prime_UTR_variant	60481			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000304434.6:c.-148G>T	6.37:g.53213754C>A			B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	RNA	SNP	-	NULL	ENST00000304434.6	37	NULL	CCDS4951.1	6																																																																																			ELOVL5	-	-		0.647	ELOVL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	HGNC	protein_coding	OTTHUMT00000043566.1	C	NM_021814		53213754	-1	no_errors	ENST00000485336	ensembl	human	known	70_37	rna	SNP	0.997	A
EMX2	2018	genome.wustl.edu	37	10	119308319	119308319	+	3'UTR	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr10:119308319C>T	ENST00000553456.3	+	0	2159				EMX2_ENST00000442245.4_3'UTR|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2						anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TAGCCCCATCCCACACCTGTT	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	2018			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.*576C>T	10.37:g.119308319C>T			G3V305|Q96NN8|Q9BQF4	RNA	SNP	-	NULL	ENST00000553456.3	37	NULL	CCDS7601.1	10																																																																																			EMX2	-	-		0.353	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	C	NM_004098		119308319	+1	no_errors	ENST00000442245	ensembl	human	known	70_37	rna	SNP	1.000	T
ENO1	2023	genome.wustl.edu	37	1	8926553	8926553	+	Missense_Mutation	SNP	T	T	C	rs527568599		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:8926553T>C	ENST00000234590.4	-	7	571	c.452A>G	c.(451-453)aAt>aGt	p.N151S		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	151	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATTGATGACATTGAACGCCTG	0.567													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19061	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(21;302 608 19946 22210 33560)												0													85.0	82.0	83.0					1																	8926553		2203	4300	6503	SO:0001583	missense	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.452A>G	1.37:g.8926553T>C	ENSP00000234590:p.Asn151Ser		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.N151S	ENST00000234590.4	37	c.452	CCDS97.1	1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459704	0.63401	.	.	ENSG00000074800	ENST00000234590	T	0.61040	0.14	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.93507	3.425	0.51767	D	0.999938	B;B;B;B	0.31351	0.32;0.209;0.274;0.209	B;B;B;B	0.35688	0.208;0.149;0.132;0.105	T	0.76435	-0.2960	10	0.87932	D	0	-18.3572	14.4863	0.67619	0.0:0.0:0.0:1.0	.	55;118;58;151	E2DRY6;A4UCS8;P06733-2;P06733	.;.;.;ENOA_HUMAN	S	151	ENSP00000234590:N151S	ENSP00000234590:N151S	N	-	2	0	ENO1	8849140	1.000000	0.71417	0.987000	0.45799	0.815000	0.46073	8.005000	0.88553	2.017000	0.59298	0.460000	0.39030	AAT	ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.567	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	T	NM_001428		8926553	-1	no_errors	ENST00000234590	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF38	152006	genome.wustl.edu	37	9	36334956	36334956	+	IGR	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:36334956C>T	ENST00000259605.6	-	0	5012					NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38						male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			CACAAGTACTCTTCTACGTAT	0.388																																																	0													202.0	177.0	184.0					9																	36334956		692	1591	2283	SO:0001628	intergenic_variant	0				CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905		9.37:g.36334956C>T			A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	RNA	SNP	-	NULL	ENST00000259605.6	37	NULL	CCDS6603.1	9																																																																																			RP11-84P7.3	-	-		0.388	RNF38-001	KNOWN	basic|CCDS	protein_coding	ENSG00000224304	Clone_based_vega_gene	protein_coding	OTTHUMT00000052422.3	C	NM_022781		36334956	-1	no_errors	ENST00000426015	ensembl	human	known	70_37	rna	SNP	0.015	T
FAF1	11124	genome.wustl.edu	37	1	51171511	51171511	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:51171511C>T	ENST00000396153.2	-	7	1055	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	FAF1_ENST00000371778.4_Missense_Mutation_p.E202K	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	202					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CGCTGGACTTCTCGGTGGGTG	0.423																																																	2	Whole gene deletion(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)											134.0	122.0	126.0					1																	51171511		2203	4300	6503	SO:0001583	missense	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.604G>A	1.37:g.51171511C>T	ENSP00000379457:p.Glu202Lys		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.E202K	ENST00000396153.2	37	c.604	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720999	0.68959	.	.	ENSG00000185104	ENST00000396153;ENST00000371778	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.22421	0.69	0.80722	D	1	P	0.39831	0.69	B	0.33454	0.164	T	0.20371	-1.0277	9	0.12766	T	0.61	-11.7982	19.7502	0.96265	0.0:1.0:0.0:0.0	.	202	Q9UNN5	FAF1_HUMAN	K	202	.	ENSP00000360843:E202K	E	-	1	0	FAF1	50944099	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.654000	0.90174	0.650000	0.86243	GAA	FAF1	-	NULL		0.423	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	C	NM_007051		51171511	-1	no_errors	ENST00000371778	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM161B	145483	genome.wustl.edu	37	14	74411422	74411422	+	Missense_Mutation	SNP	C	C	T	rs371012373		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr14:74411422C>T	ENST00000534936.1	-	3	646	c.541G>A	c.(541-543)Gag>Aag	p.E181K	FAM161B_ENST00000286544.3_Missense_Mutation_p.E244K			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	181										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TTCCGGGCCTCGCGCAGCGTC	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		20207	0.0		0.0	False		,,,				2504	0.001																0								C	LYS/GLU	0,4406		0,0,2203	25.0	26.0	26.0		730	5.2	1.0	14		26	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM161B	NM_152445.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	244/711	74411422	1,13005	2203	4300	6503	SO:0001583	missense	145483			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.541G>A	14.37:g.74411422C>T	ENSP00000445326:p.Glu181Lys		B7Z882|J3KNA2	Missense_Mutation	SNP	pfam_UPF0564	p.E244K	ENST00000534936.1	37	c.730		14	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001465	0.74818	0.0	1.16E-4	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.32515	1.45;1.45	5.17	5.17	0.71159	.	0.073354	0.53938	D	0.000045	T	0.62913	0.2467	M	0.87456	2.885	0.47009	D	0.999282	D	0.89917	1.0	D	0.91635	0.999	T	0.67526	-0.5648	10	0.54805	T	0.06	-22.7985	18.8556	0.92251	0.0:1.0:0.0:0.0	.	181	Q96MY7	F161B_HUMAN	K	244;181	ENSP00000286544:E244K;ENSP00000445326:E181K	ENSP00000286544:E244K	E	-	1	0	FAM161B	73481175	1.000000	0.71417	0.996000	0.52242	0.326000	0.28443	4.932000	0.63476	2.688000	0.91661	0.563000	0.77884	GAG	FAM161B	-	pfam_UPF0564		0.672	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	FAM161B	HGNC	protein_coding		C	NM_152445		74411422	-1	no_errors	ENST00000286544	ensembl	human	known	70_37	missense	SNP	0.997	T
FAM208B	54906	genome.wustl.edu	37	10	5777311	5777311	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr10:5777311G>C	ENST00000328090.5	+	12	1874	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	417																	AACCAAATTGGATAGGAAAAA	0.408																																																	0													155.0	151.0	152.0					10																	5777311		1825	4087	5912	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1249G>C	10.37:g.5777311G>C	ENSP00000328426:p.Asp417His		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.D417H	ENST00000328090.5	37	c.1249	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502953	0.64298	.	.	ENSG00000108021	ENST00000328090	D	0.98876	-5.2	5.78	3.91	0.45181	.	0.654033	0.14762	N	0.299883	D	0.98049	0.9357	L	0.56769	1.78	0.25736	N	0.985217	D	0.62365	0.991	P	0.54401	0.751	D	0.94251	0.7493	10	0.59425	D	0.04	.	9.0417	0.36322	0.1685:0.0:0.8315:0.0	.	417	Q5VWN6	F208B_HUMAN	H	417	ENSP00000328426:D417H	ENSP00000328426:D417H	D	+	1	0	C10orf18	5817317	0.959000	0.32827	0.969000	0.41365	0.987000	0.75469	1.315000	0.33608	0.781000	0.33589	0.655000	0.94253	GAT	FAM208B	-	NULL		0.408	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5777311	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.933	C
FBXL5	26234	genome.wustl.edu	37	4	15607356	15607356	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:15607356G>C	ENST00000341285.3	-	11	2190	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	FBXL5_ENST00000382358.4_Missense_Mutation_p.S563C|FBXL5_ENST00000412094.2_Missense_Mutation_p.S672C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	689					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TCATTCGCCAGAGCGGCAGCA	0.443																																																	0													70.0	62.0	64.0					4																	15607356		2203	4300	6503	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.2066C>G	4.37:g.15607356G>C	ENSP00000344866:p.Ser689Cys		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.S689C	ENST00000341285.3	37	c.2066	CCDS3415.1	4	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635806	0.87760	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.46063	1.01;1.04;0.88	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.64245	-0.6453	10	0.66056	D	0.02	-17.9967	19.6961	0.96026	0.0:0.0:1.0:0.0	.	672;689	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	C	689;672;563	ENSP00000344866:S689C;ENSP00000408679:S672C;ENSP00000371795:S563C	ENSP00000344866:S689C	S	-	2	0	FBXL5	15216454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.654000	0.90174	0.650000	0.86243	TCT	FBXL5	-	NULL		0.443	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	HGNC	protein_coding	OTTHUMT00000214235.2	G			15607356	-1	no_errors	ENST00000341285	ensembl	human	known	70_37	missense	SNP	1.000	C
FCGBP	8857	genome.wustl.edu	37	19	40376662	40376662	+	Missense_Mutation	SNP	G	G	C	rs79630345	byFrequency	TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:40376662G>C	ENST00000221347.6	-	24	11767	c.11760C>G	c.(11758-11760)caC>caG	p.H3920Q	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3920			H -> Q (in dbSNP:rs2542318).			extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGGCTCCACGTGGCCTCCAG	0.592													g|||	625	0.1248	0.0983	0.0447	5008	,	,		27897	0.3026		0.0577	False		,,,				2504	0.1033																0													96.0	122.0	113.0					19																	40376662		2113	4189	6302	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11760C>G	19.37:g.40376662G>C	ENSP00000221347:p.His3920Gln		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.H3920Q	ENST00000221347.6	37	c.11760	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	g	7.411	0.634815	0.14322	.	.	ENSG00000090920	ENST00000221347	T	0.75704	-0.96	3.67	-6.46	0.01908	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.42653	0.1212	N	0.11255	0.115	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33343	-0.9872	9	0.12766	T	0.61	.	1.7186	0.02907	0.3358:0.1251:0.4119:0.1272	.	3920	Q9Y6R7	FCGBP_HUMAN	Q	3920	ENSP00000221347:H3920Q	ENSP00000221347:H3920Q	H	-	3	2	FCGBP	45068502	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-2.166000	0.01273	-1.510000	0.01796	0.313000	0.20887	CAC	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40376662	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.001	C
FLG	2312	genome.wustl.edu	37	1	152276866	152276866	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:152276866G>C	ENST00000368799.1	-	3	10531	c.10496C>G	c.(10495-10497)tCc>tGc	p.S3499C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3499	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCTGGAGCCATCTCC	0.582									Ichthyosis																																								0													259.0	256.0	257.0					1																	152276866		2203	4297	6500	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10496C>G	1.37:g.152276866G>C	ENSP00000357789:p.Ser3499Cys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S3499C	ENST00000368799.1	37	c.10496	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891626	0.17613	.	.	ENSG00000143631	ENST00000368799	T	0.09350	2.99	2.86	1.88	0.25563	.	.	.	.	.	T	0.14313	0.0346	M	0.73598	2.24	0.09310	N	1	D	0.69078	0.997	D	0.72075	0.976	T	0.06144	-1.0843	9	0.38643	T	0.18	.	7.5519	0.27802	0.0:0.2679:0.7321:0.0	.	3499	P20930	FILA_HUMAN	C	3499	ENSP00000357789:S3499C	ENSP00000357789:S3499C	S	-	2	0	FLG	150543490	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.267000	0.02839	0.492000	0.27815	0.398000	0.26397	TCC	FLG	-	pfam_Filaggrin		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152276866	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	C
FLG	2312	genome.wustl.edu	37	1	152277562	152277562	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:152277562G>A	ENST00000368799.1	-	3	9835	c.9800C>T	c.(9799-9801)tCt>tTt	p.S3267F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3267	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGTCTGCAGAGTGCCCGTG	0.577									Ichthyosis																																								0													277.0	277.0	277.0					1																	152277562		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9800C>T	1.37:g.152277562G>A	ENSP00000357789:p.Ser3267Phe		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S3267F	ENST00000368799.1	37	c.9800	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	9.514	1.106584	0.20714	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00873	5.59	2.9	0.673	0.17941	.	.	.	.	.	T	0.01287	0.0042	M	0.72118	2.19	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.50558	-0.8814	9	0.56958	D	0.05	-5.0E-4	2.8232	0.05478	0.1623:0.0:0.5618:0.2759	.	3267	P20930	FILA_HUMAN	F	3267;205	ENSP00000357789:S3267F	ENSP00000357786:S205F	S	-	2	0	FLG	150544186	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.413000	0.07123	0.538000	0.28769	0.449000	0.29647	TCT	FLG	-	NULL		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152277562	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	A
GABBR1	2550	genome.wustl.edu	37	6	29577078	29577078	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr6:29577078G>A	ENST00000377034.4	-	15	2122	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	GABBR1_ENST00000377012.4_Missense_Mutation_p.S479L|GABBR1_ENST00000355973.3_Missense_Mutation_p.S479L|GABBR1_ENST00000377016.4_Missense_Mutation_p.S534L|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	596					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAGAGAACTGAGACGGAGAT	0.517																																																	0													121.0	96.0	105.0					6																	29577078		1511	2709	4220	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1787C>T	6.37:g.29577078G>A	ENSP00000366233:p.Ser596Leu		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.S596L	ENST00000377034.4	37	c.1787	CCDS4663.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.254665	0.95336	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;T	0.83591	-1.74;-1.64;-1.74;-0.52	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.993	D;D;D	0.80764	0.993;0.994;0.977	D	0.88114	0.2827	10	0.52906	T	0.07	-25.6017	17.8477	0.88736	0.0:0.0:1.0:0.0	.	534;596;479	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	L	479;534;479;596	ENSP00000348248:S479L;ENSP00000366215:S534L;ENSP00000366211:S479L;ENSP00000366233:S596L	ENSP00000348248:S479L	S	-	2	0	GABBR1	29685057	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	9.478000	0.97927	2.826000	0.97356	0.655000	0.94253	TCA	GABBR1	-	prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1		0.517	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	G			29577078	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	missense	SNP	1.000	A
GFRA1	2674	genome.wustl.edu	37	10	117884787	117884787	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr10:117884787C>T	ENST00000355422.6	-	6	1265	c.715G>A	c.(715-717)Gag>Aag	p.E239K	GFRA1_ENST00000544592.1_Missense_Mutation_p.E118K|GFRA1_ENST00000369236.1_Missense_Mutation_p.E234K|GFRA1_ENST00000439649.3_Missense_Mutation_p.E234K	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	239					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TTGGGCTTCTCCCTCTCTTCA	0.542																																					Ovarian(128;329 1725 45498 46808 50759)												0													72.0	62.0	65.0					10																	117884787		2203	4300	6503	SO:0001583	missense	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.715G>A	10.37:g.117884787C>T	ENSP00000347591:p.Glu239Lys		A8KA21|O15507|O43912	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.E239K	ENST00000355422.6	37	c.715	CCDS44481.1	10	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900649	0.72754	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.48836	1.39;0.8	5.75	5.75	0.90469	.	0.282128	0.38605	N	0.001633	T	0.50718	0.1632	M	0.74881	2.28	0.58432	D	0.999999	B;B	0.31968	0.284;0.349	B;B	0.24155	0.031;0.051	T	0.51252	-0.8729	10	0.42905	T	0.14	-28.2622	19.9522	0.97203	0.0:1.0:0.0:0.0	.	239;234	P56159;P56159-2	GFRA1_HUMAN;.	K	239;234;234;118;234	ENSP00000358239:E234K;ENSP00000442179:E118K	ENSP00000347591:E234K	E	-	1	0	GFRA1	117874777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.313000	0.51935	2.725000	0.93324	0.655000	0.94253	GAG	GFRA1	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2		0.542	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	C	NM_145793		117884787	-1	no_errors	ENST00000439649	ensembl	human	known	70_37	missense	SNP	1.000	T
GON4L	54856	genome.wustl.edu	37	1	155735537	155735537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:155735537G>A	ENST00000368331.1	-	21	3775	c.3727C>T	c.(3727-3729)Cag>Tag	p.Q1243*	GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q1243*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q1243*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Nonsense_Mutation_p.Q1243*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1243					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTAGGCCCTGAAAGGCATTT	0.507																																																	0													73.0	76.0	75.0					1																	155735537		2203	4298	6501	SO:0001587	stop_gained	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3727C>T	1.37:g.155735537G>A	ENSP00000357315:p.Gln1243*		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.Q1243*	ENST00000368331.1	37	c.3727		1	.	.	.	.	.	.	.	.	.	.	G	38	6.946494	0.97956	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	.	.	.	5.08	4.13	0.48395	.	0.550760	0.18445	N	0.141011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	15.4288	0.75075	0.0:0.1386:0.8614:0.0	.	.	.	.	X	1243	.	ENSP00000271883:Q1243X	Q	-	1	0	GON4L	154002161	0.977000	0.34250	0.963000	0.40424	0.362000	0.29581	2.480000	0.45206	2.649000	0.89929	0.650000	0.86243	CAG	GON4L	-	NULL		0.507	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155735537	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	nonsense	SNP	0.951	A
GPR144	347088	genome.wustl.edu	37	9	127237855	127237855	+	Silent	SNP	G	G	C	rs377539709		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:127237855G>C	ENST00000334810.1	+	19	2727	c.2727G>C	c.(2725-2727)cgG>cgC	p.R909R				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	909					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						CCCAGGTGCGGAGCGCCCTGC	0.692																																																	0													79.0	87.0	84.0					9																	127237855		692	1591	2283	SO:0001819	synonymous_variant	347088			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.2727G>C	9.37:g.127237855G>C			Q86SL4|Q8NH12	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like	p.R909	ENST00000334810.1	37	c.2727	CCDS48016.1	9																																																																																			GPR144	-	NULL		0.692	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	G	NM_182611		127237855	+1	no_errors	ENST00000334810	ensembl	human	known	70_37	silent	SNP	0.750	C
GPR179	440435	genome.wustl.edu	37	17	36489893	36489893	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:36489893C>T	ENST00000342292.4	-	9	1833	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	605					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGGGTCCAGTCCGGGTGCAGA	0.607											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73.0	95.0	88.0					17																	36489893		2147	4237	6384	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1813G>A	17.37:g.36489893C>T	ENSP00000345060:p.Asp605Asn	863		Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.D605N	ENST00000342292.4	37	c.1813	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.058699	0.93846	.	.	ENSG00000188888	ENST00000342292	T	0.58797	0.31	5.02	4.05	0.47172	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.75568	0.3867	M	0.85945	2.785	0.44155	D	0.996958	D	0.76494	0.999	D	0.67103	0.949	T	0.79045	-0.1964	10	0.52906	T	0.07	-17.0885	12.7478	0.57291	0.0:0.9188:0.0:0.0812	.	605	Q6PRD1	GP179_HUMAN	N	605	ENSP00000345060:D605N	ENSP00000345060:D605N	D	-	1	0	GPR179	33743419	1.000000	0.71417	0.940000	0.37924	0.997000	0.91878	7.015000	0.76387	1.484000	0.48361	0.563000	0.77884	GAC	GPR179	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.607	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36489893	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.997	T
GPR85	54329	genome.wustl.edu	37	7	112724152	112724152	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:112724152C>T	ENST00000297146.3	-	3	1228	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.V209I|GPR85_ENST00000501255.2_Missense_Mutation_p.V209I|GPR85_ENST00000424100.1_Missense_Mutation_p.V209I	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	209					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CGATCGTGGACGAAAAATATC	0.498																																																	0													56.0	55.0	55.0					7																	112724152		2203	4300	6503	SO:0001583	missense	54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.625G>A	7.37:g.112724152C>T	ENSP00000297146:p.Val209Ile		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V209I	ENST00000297146.3	37	c.625	CCDS5758.1	7	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429901	0.25726	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	N	0.01705	-0.755	0.80722	D	1	B	0.20368	0.044	B	0.20184	0.028	T	0.13764	-1.0497	10	0.21014	T	0.42	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	209	P60893	GPR85_HUMAN	I	209	ENSP00000445808:V209I;ENSP00000297146:V209I;ENSP00000396763:V209I;ENSP00000401178:V209I	ENSP00000297146:V209I	V	-	1	0	GPR85	112511388	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.765000	0.95021	0.650000	0.86243	GTC	GPR85	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR85	HGNC	protein_coding	OTTHUMT00000346650.2	C			112724152	-1	no_errors	ENST00000297146	ensembl	human	known	70_37	missense	SNP	1.000	T
GPRASP2	114928	genome.wustl.edu	37	X	101970963	101970963	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:101970963C>T	ENST00000535209.1	+	4	1997	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S389F|GPRASP2_ENST00000543253.1_Missense_Mutation_p.S389F			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	389						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						ATTATTGGGTCCTGGTTCTGG	0.517																																																	0													63.0	63.0	63.0					X																	101970963		2203	4300	6503	SO:0001583	missense	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1166C>T	X.37:g.101970963C>T	ENSP00000437394:p.Ser389Phe		D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S389F	ENST00000535209.1	37	c.1166	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716063	0.48622	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.13089	2.62;2.62;2.62	4.44	4.44	0.53790	.	0.144862	0.32736	N	0.005715	T	0.30039	0.0752	M	0.68593	2.085	0.36808	D	0.885743	D	0.89917	1.0	D	0.71184	0.972	T	0.16897	-1.0387	10	0.87932	D	0	.	7.365	0.26768	0.0:0.8845:0.0:0.1155	.	389	Q96D09	GASP2_HUMAN	F	389	ENSP00000437872:S389F;ENSP00000437394:S389F;ENSP00000339057:S389F	ENSP00000339057:S389F	S	+	2	0	GPRASP2	101857619	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.166000	0.50785	2.458000	0.83093	0.600000	0.82982	TCC	GPRASP2	-	NULL		0.517	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	C	NM_138437		101970963	+1	no_errors	ENST00000332262	ensembl	human	known	70_37	missense	SNP	1.000	T
GTDC1	79712	genome.wustl.edu	37	2	144966322	144966322	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:144966322G>C	ENST00000392869.2	-	3	179	c.27C>G	c.(25-27)ttC>ttG	p.F9L	GTDC1_ENST00000241391.5_Missense_Mutation_p.F9L|GTDC1_ENST00000542155.1_Missense_Mutation_p.F9L|GTDC1_ENST00000409214.1_Missense_Mutation_p.F9L|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.F9L|GTDC1_ENST00000392867.3_Missense_Mutation_p.F9L|GTDC1_ENST00000409298.1_Missense_Mutation_p.F9L|GTDC1_ENST00000467352.1_5'Flank	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	9					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AGCCTCCATAGAATGCTTCAA	0.388																																																	0													62.0	63.0	62.0					2																	144966322		2203	4300	6503	SO:0001583	missense	79712			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.27C>G	2.37:g.144966322G>C	ENSP00000376608:p.Phe9Leu		A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1	p.F9L	ENST00000392869.2	37	c.27	CCDS33300.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097158	0.76870	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	6.08	2.88	0.33553	Glycosyltransferase family 1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.86420	2.815	0.54753	D	0.999986	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	D;D;D;D	0.83275	0.983;0.969;0.996;0.983	T	0.76729	-0.2852	10	0.72032	D	0.01	-3.4411	11.2215	0.48857	0.2945:0.0:0.7055:0.0	.	9;9;9;9	Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	L	9	ENSP00000376608:F9L;ENSP00000386581:F9L;ENSP00000376606:F9L;ENSP00000386691:F9L;ENSP00000438323:F9L;ENSP00000241391:F9L;ENSP00000339750:F9L;ENSP00000403869:F9L;ENSP00000400661:F9L	ENSP00000241391:F9L	F	-	3	2	GTDC1	144682792	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.613000	0.24299	0.891000	0.36235	0.655000	0.94253	TTC	GTDC1	-	pfam_GlycosylTrfase_1_N		0.388	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC1	HGNC	protein_coding	OTTHUMT00000254779.2	G	NM_024659		144966322	-1	no_errors	ENST00000344850	ensembl	human	known	70_37	missense	SNP	1.000	C
HES4	57801	genome.wustl.edu	37	1	935157	935157	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:935157G>C	ENST00000304952.6	-	2	256	c.119C>G	c.(118-120)cCg>cGg	p.P40R	RP11-54O7.17_ENST00000606034.1_lincRNA|HES4_ENST00000428771.2_Missense_Mutation_p.P66R|HES4_ENST00000484667.2_Intron			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	40	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCATGACCGGCTTGGAGGA	0.697																																																	0													21.0	24.0	23.0					1																	935157		2186	4283	6469	SO:0001583	missense	57801			BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"""Basic helix-loop-helix proteins"""	24149	protein-coding gene	gene with protein product		608060	"""hairy and enhancer of split 4 (Drosophila)"""			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758	ENST00000304952.6:c.119C>G	1.37:g.935157G>C	ENSP00000304595:p.Pro40Arg		Q5SVA5	Missense_Mutation	SNP	pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.P66R	ENST00000304952.6	37	c.197	CCDS5.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791551	0.50102	.	.	ENSG00000188290	ENST00000428771;ENST00000304952	D;D	0.97924	-4.61;-4.61	3.1	2.16	0.27623	Helix-loop-helix DNA-binding (5);	.	.	.	.	D	0.98611	0.9535	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98186	1.0460	9	0.87932	D	0	.	8.1343	0.31046	0.1308:0.0:0.8692:0.0	.	66;40	E9PB28;Q9HCC6	.;HES4_HUMAN	R	66;40	ENSP00000393198:P66R;ENSP00000304595:P40R	ENSP00000304595:P40R	P	-	2	0	HES4	925020	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	5.662000	0.68032	0.500000	0.27991	0.462000	0.41574	CCG	HES4	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.697	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES4	HGNC	protein_coding	OTTHUMT00000097944.1	G	NM_021170		935157	-1	no_errors	ENST00000428771	ensembl	human	known	70_37	missense	SNP	1.000	C
HIST1H1C	3006	genome.wustl.edu	37	6	26056513	26056514	+	Frame_Shift_Ins	INS	-	-	A	rs201575715		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr6:26056513_26056514insA	ENST00000343677.2	-	1	185_186	c.143_144insT	c.(142-144)gtgfs	p.V48fs		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	48	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TAGAGGCGGCCACAGCCTTGGT	0.574																																																	0																																										SO:0001589	frameshift_variant	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.144dupT	6.37:g.26056514_26056514dupA	ENSP00000339566:p.Val48fs		A8K4I2	Frame_Shift_Ins	INS	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.A49fs	ENST00000343677.2	37	c.144_143	CCDS4577.1	6																																																																																			HIST1H1C	-	pfam_Histone_H1/H5,smart_Histone_H1/H5		0.574	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	-	NM_005319		26056514	-1	no_errors	ENST00000343677	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:1.000	A
HS3ST3B1	9953	genome.wustl.edu	37	17	14205134	14205134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:14205134C>A	ENST00000360954.2	+	1	735	c.299C>A	c.(298-300)tCa>tAa	p.S100*	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	100					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CCACTGGCTTCAGGCAAGGAG	0.731																																																	0													3.0	5.0	4.0					17																	14205134		2039	4032	6071	SO:0001587	stop_gained	9953			AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.299C>A	17.37:g.14205134C>A	ENSP00000354213:p.Ser100*		B3KN58|D3DTS6	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom	p.S100*	ENST00000360954.2	37	c.299	CCDS11167.1	17	.	.	.	.	.	.	.	.	.	.	C	38	7.192624	0.98125	.	.	ENSG00000125430	ENST00000360954	.	.	.	4.71	2.46	0.29980	.	1.638410	0.04522	U	0.384731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9358	0.24466	0.1794:0.7149:0.0:0.1058	.	.	.	.	X	100	.	ENSP00000354213:S100X	S	+	2	0	HS3ST3B1	14145859	0.871000	0.30034	0.000000	0.03702	0.302000	0.27658	1.240000	0.32731	0.362000	0.24319	0.555000	0.69702	TCA	HS3ST3B1	-	NULL		0.731	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3B1	HGNC	protein_coding	OTTHUMT00000129998.1	C	NM_006041		14205134	+1	no_errors	ENST00000360954	ensembl	human	known	70_37	nonsense	SNP	0.007	A
IMPG2	50939	genome.wustl.edu	37	3	100976502	100976502	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr3:100976502C>T	ENST00000193391.7	-	10	1211	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	342	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGTTTATCATCCAGTTCCACA	0.438																																																	0													127.0	121.0	123.0					3																	100976502		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1024G>A	3.37:g.100976502C>T	ENSP00000193391:p.Asp342Asn		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.D342N	ENST00000193391.7	37	c.1024	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093233	0.76756	.	.	ENSG00000081148	ENST00000193391	T	0.26223	1.75	5.51	4.64	0.57946	SEA (1);	0.149852	0.45126	N	0.000381	T	0.24353	0.0590	L	0.44542	1.39	0.33587	D	0.600672	B;B	0.22146	0.065;0.024	B;B	0.24394	0.053;0.031	T	0.28870	-1.0030	10	0.62326	D	0.03	-10.9615	12.5939	0.56456	0.0:0.9231:0.0:0.0769	.	342;342	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	N	342	ENSP00000193391:D342N	ENSP00000193391:D342N	D	-	1	0	IMPG2	102459192	0.995000	0.38212	1.000000	0.80357	0.872000	0.50106	3.526000	0.53509	1.332000	0.45431	0.462000	0.41574	GAT	IMPG2	-	smart_SEA		0.438	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	C			100976502	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	0.984	T
INIP	58493	genome.wustl.edu	37	9	115456478	115456478	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:115456478C>T	ENST00000374242.4	-	3	366	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	INIP_ENST00000374234.1_5'UTR|INIP_ENST00000374238.1_5'UTR|INIP_ENST00000374236.1_5'UTR|INIP_ENST00000497712.2_5'UTR	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	21					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)											TTGTCCAGTTCTGCCAAGATT	0.353																																																	0													152.0	140.0	144.0					9																	115456478		2203	4300	6503	SO:0001583	missense	58493			AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"""hSSB-interacting protein 1"", ""sensor of single-strand DNA complex subunit C"", ""minute INTS3/hSSB-associated element"""	613273	"""chromosome 9 open reading frame 80"""	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.61G>A	9.37:g.115456478C>T	ENSP00000363360:p.Glu21Lys		Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	NULL	p.E21K	ENST00000374242.4	37	c.61	CCDS6785.1	9	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566593	0.86439	.	.	ENSG00000148153	ENST00000374242	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.63498	0.2516	M	0.72894	2.215	0.80722	D	1	P	0.40534	0.72	B	0.35353	0.201	T	0.69079	-0.5240	9	0.59425	D	0.04	-31.3261	19.5958	0.95536	0.0:1.0:0.0:0.0	.	21	Q9NRY2	SOSSC_HUMAN	K	21	.	ENSP00000363360:E21K	E	-	1	0	C9orf80	114496299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.666000	0.74446	2.806000	0.96561	0.655000	0.94253	GAA	INIP	-	NULL		0.353	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INIP	HGNC	protein_coding	OTTHUMT00000053692.2	C	NM_021218		115456478	-1	no_errors	ENST00000374242	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC27A3	11000	genome.wustl.edu	37	1	153745674	153745674	+	5'Flank	SNP	G	G	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:153745674G>T	ENST00000368661.3	+	0	0				SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000318967.2_Missense_Mutation_p.E1019D|INTS3_ENST00000456435.1_Missense_Mutation_p.E879D|INTS3_ENST00000435409.2_Missense_Mutation_p.E1019D|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.E879D	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCAGGAAGAGGAAGACACGA	0.602																																																	0													170.0	176.0	174.0					1																	153745674		2203	4300	6503	SO:0001631	upstream_gene_variant	65123			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745674G>T	Exception_encountered		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.E1019D	ENST00000368661.3	37	c.3057	CCDS1053.1	1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500035	0.64298	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.01	-1.22	0.09494	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	L	0.50333	1.59	0.80722	D	1	D;P;D	0.56035	0.974;0.956;0.974	D;P;D	0.67725	0.953;0.899;0.953	T	0.50320	-0.8842	9	0.24483	T	0.36	.	9.0167	0.36175	0.5026:0.0:0.4974:0.0	.	879;1020;1019	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	D	1019;879;1019;879	.	ENSP00000318641:E1019D	E	+	3	2	INTS3	152012298	0.858000	0.29795	0.997000	0.53966	0.855000	0.48748	-0.083000	0.11286	-0.110000	0.12022	-0.378000	0.06908	GAG	INTS3	-	NULL		0.602	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding		G	NM_024330		153745674	+1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	0.990	T
IPCEF1	26034	genome.wustl.edu	37	6	154480965	154480965	+	Nonstop_Mutation	SNP	A	A	G			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr6:154480965A>G	ENST00000265198.4	-	12	1467	c.1312T>C	c.(1312-1314)Tga>Cga	p.*438R	IPCEF1_ENST00000367220.4_Nonstop_Mutation_p.*439R|IPCEF1_ENST00000519344.1_Nonstop_Mutation_p.*410R|IPCEF1_ENST00000422970.2_Nonstop_Mutation_p.*439R|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	0					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ACTTTGTCTCAAATGGAATTT	0.433																																																	0													46.0	49.0	48.0					6																	154480965		2203	4300	6503	SO:0001578	stop_lost	26034			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1312T>C	6.37:g.154480965A>G	ENSP00000265198:p.*438Glyext*27		A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Nonstop_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.*439R	ENST00000265198.4	37	c.1315	CCDS5245.1	6	.	.	.	.	.	.	.	.	.	.	A	7.553	0.663188	0.14710	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1853	0.54234	0.7837:0.2163:0.0:0.0	.	.	.	.	R	438;439;439;410	.	.	X	-	1	0	IPCEF1	154522657	1.000000	0.71417	0.979000	0.43373	0.202000	0.24057	5.476000	0.66793	1.990000	0.58119	0.460000	0.39030	TGA	IPCEF1	-	NULL		0.433	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IPCEF1	HGNC	protein_coding	OTTHUMT00000042789.2	A	NM_001130699		154480965	-1	no_errors	ENST00000367220	ensembl	human	known	70_37	nonstop	SNP	0.996	G
IRF1	3659	genome.wustl.edu	37	5	131823640	131823640	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr5:131823640G>A	ENST00000245414.4	-	3	423	c.165C>T	c.(163-165)ttC>ttT	p.F55F	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Silent_p.F55F	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	55					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCCAGCTCCGGAACAAACAGG	0.532																																																	0													107.0	85.0	93.0					5																	131823640		2203	4300	6503	SO:0001819	synonymous_variant	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.165C>T	5.37:g.131823640G>A			Q96GG7	Silent	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.F55	ENST00000245414.4	37	c.165	CCDS4155.1	5																																																																																			IRF1	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom		0.532	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	G	NM_002198		131823640	-1	no_errors	ENST00000245414	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNQ3	3786	genome.wustl.edu	37	8	133141782	133141782	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr8:133141782G>A	ENST00000388996.4	-	15	2766	c.2346C>T	c.(2344-2346)atC>atT	p.I782I	KCNQ3_ENST00000521134.1_Silent_p.I662I|KCNQ3_ENST00000519445.1_Silent_p.I770I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	782					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGTCTCGCGTGATGCTACGTC	0.592																																																	0													64.0	59.0	61.0					8																	133141782		2203	4300	6503	SO:0001819	synonymous_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2346C>T	8.37:g.133141782G>A			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.I782	ENST00000388996.4	37	c.2346	CCDS34943.1	8																																																																																			KCNQ3	-	pfam_Ankyrin-G_BS		0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	G	NM_004519		133141782	-1	no_errors	ENST00000388996	ensembl	human	known	70_37	silent	SNP	0.998	A
KIF2B	84643	genome.wustl.edu	37	17	51900705	51900705	+	Missense_Mutation	SNP	C	C	T	rs371085430		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:51900705C>T	ENST00000268919.4	+	1	467	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	104					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCGCCCTCTTCGGCCATCAGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		15275	0.001		0.0	False		,,,				2504	0.0																0								C	LEU/SER	0,4406		0,0,2203	89.0	98.0	95.0		311	2.9	0.0	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF2B	NM_032559.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	104/674	51900705	1,13005	2203	4300	6503	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.311C>T	17.37:g.51900705C>T	ENSP00000268919:p.Ser104Leu		Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S104L	ENST00000268919.4	37	c.311	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	C	2.386	-0.340855	0.05243	0.0	1.16E-4	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74106	-0.81	4.96	2.93	0.34026	.	1.236910	0.06126	U	0.669728	T	0.64605	0.2613	L	0.49778	1.585	0.09310	N	1	P	0.37731	0.607	B	0.29785	0.107	T	0.49844	-0.8896	10	0.23891	T	0.37	.	7.475	0.27371	0.1646:0.7497:0.0:0.0857	.	104	Q8N4N8	KIF2B_HUMAN	L	104;27	ENSP00000268919:S104L	ENSP00000268919:S104L	S	+	2	0	KIF2B	49255704	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	1.901000	0.39838	0.763000	0.33175	0.655000	0.94253	TCG	KIF2B	-	NULL		0.612	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	C	NM_032559		51900705	+1	no_errors	ENST00000268919	ensembl	human	known	70_37	missense	SNP	0.001	T
KIF3B	9371	genome.wustl.edu	37	20	30904625	30904625	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr20:30904625C>T	ENST00000375712.3	+	5	1863	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	KIF3B_ENST00000418717.2_Missense_Mutation_p.R192C	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	566					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R566C(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATCAAGGAGCGCCAAGAGCT	0.542																																																	1	Substitution - Missense(1)	endometrium(1)											90.0	84.0	86.0					20																	30904625		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1696C>T	20.37:g.30904625C>T	ENSP00000364864:p.Arg566Cys		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R566C	ENST00000375712.3	37	c.1696	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746887	0.69418	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.77620	-1.11;0.07	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.89146	0.6632	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.966;0.991	D	0.90759	0.4663	10	0.72032	D	0.01	.	12.9493	0.58389	0.1619:0.8381:0.0:0.0	.	192;566	B4DSR5;O15066	.;KIF3B_HUMAN	C	566;192	ENSP00000364864:R566C;ENSP00000406287:R192C	ENSP00000364864:R566C	R	+	1	0	KIF3B	30368286	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.974000	0.40559	2.527000	0.85204	0.555000	0.69702	CGC	KIF3B	-	NULL		0.542	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	C	NM_004798		30904625	+1	no_errors	ENST00000375712	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF5C	3800	genome.wustl.edu	37	2	149854923	149854923	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:149854923G>C	ENST00000435030.1	+	19	2478	c.2110G>C	c.(2110-2112)Gag>Cag	p.E704Q	KIF5C_ENST00000414838.2_Missense_Mutation_p.E609Q|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.E472Q			O60282	KIF5C_HUMAN	kinesin family member 5C	704					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GAAGGCGCTGGAGCAGCAGAT	0.547																																																	0													19.0	22.0	21.0					2																	149854923		2095	4219	6314	SO:0001583	missense	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2110G>C	2.37:g.149854923G>C	ENSP00000393379:p.Glu704Gln		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E704Q	ENST00000435030.1	37	c.2110		2	.	.	.	.	.	.	.	.	.	.	G	35	5.457261	0.96223	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.80566	-1.39;-1.39;-1.39	5.79	5.79	0.91817	.	0.057415	0.64402	D	0.000002	D	0.87989	0.6317	.	.	.	0.58432	D	0.999994	D	0.57899	0.981	P	0.58721	0.844	D	0.86757	0.1964	8	.	.	.	.	20.0473	0.97613	0.0:0.0:1.0:0.0	.	704	O60282	KIF5C_HUMAN	Q	704;609;607;472	ENSP00000393379:E704Q;ENSP00000410115:E609Q;ENSP00000380560:E472Q	.	E	+	1	0	KIF5C	149563169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.864000	0.99589	2.722000	0.93159	0.655000	0.94253	GAG	KIF5C	-	NULL		0.547	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522		149854923	+1	no_errors	ENST00000435030	ensembl	human	known	70_37	missense	SNP	1.000	C
KRT222	125113	genome.wustl.edu	37	17	38818185	38818185	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:38818185C>T	ENST00000476049.1	-	2	249	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	KRT222_ENST00000394052.3_Missense_Mutation_p.E70K			Q8N1A0	KT222_HUMAN	keratin 222	70						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TGGAGAGATTCAATTTCCACT	0.453																																																	0													246.0	238.0	241.0					17																	38818185		2203	4300	6503	SO:0001583	missense	125113			AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.208G>A	17.37:g.38818185C>T	ENSP00000463483:p.Glu70Lys		Q7Z368	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E70K	ENST00000476049.1	37	c.208	CCDS11371.1	17	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864225	0.91511	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	D	0.89415	-2.51	5.9	5.9	0.94986	Filament (1);	0.139010	0.47455	U	0.000230	D	0.91962	0.7454	M	0.91818	3.245	0.80722	D	1	P;B	0.35923	0.528;0.336	B;B	0.34093	0.108;0.175	D	0.92369	0.5904	10	0.87932	D	0	-9.0264	20.2626	0.98452	0.0:1.0:0.0:0.0	.	30;70	Q8N1A0-2;Q8N1A0	.;KT222_HUMAN	K	30;70	ENSP00000377616:E70K	ENSP00000377613:E30K	E	-	1	0	KRT222	36071711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.472000	0.66768	2.802000	0.96397	0.650000	0.86243	GAA	KRT222	-	pfam_F,prints_Keratin_I		0.453	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KRT222	HGNC	protein_coding	OTTHUMT00000447539.1	C	NM_152349		38818185	-1	no_errors	ENST00000394052	ensembl	human	known	70_37	missense	SNP	1.000	T
KRTAP4-1	85285	genome.wustl.edu	37	17	39341030	39341030	+	Missense_Mutation	SNP	C	C	T	rs369645187		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:39341030C>T	ENST00000398472.1	-	1	564	c.77G>A	c.(76-78)cGc>cAc	p.R26H				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	26	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.597																																																	0								C	HIS/ARG	1,4383		0,1,2191	27.0	31.0	29.0		77	-2.3	0.0	17		29	0,8584		0,0,4292	no	missense	KRTAP4-1	NM_033060.2	29	0,1,6483	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	26/128	39341030	1,12967	2192	4292	6484	SO:0001583	missense	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.77G>A	17.37:g.39341030C>T	ENSP00000381489:p.Arg26His		A8MWS7|Q3SYF2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R26H	ENST00000398472.1	37	c.77		17	.	.	.	.	.	.	.	.	.	.	C	2.098	-0.406779	0.04832	2.28E-4	0.0	ENSG00000198443	ENST00000398472;ENST00000334190	T	0.01430	4.9	3.59	-2.27	0.06846	.	.	.	.	.	T	0.01353	0.0044	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.42932	-0.9422	8	0.56958	D	0.05	.	9.2425	0.37504	0.0:0.1897:0.0:0.8103	.	26	Q9BYQ7	KRA41_HUMAN	H	26	ENSP00000381489:R26H	ENSP00000335483:R26H	R	-	2	0	KRTAP4-1	36594556	0.000000	0.05858	0.002000	0.10522	0.068000	0.16541	-1.423000	0.02450	-0.266000	0.09339	-0.345000	0.07892	CGC	KRTAP4-1	-	pfam_Keratin-assoc		0.597	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	KRTAP4-1	HGNC	protein_coding	OTTHUMT00000255108.1	C	NM_033060		39341030	-1	no_errors	ENST00000398472	ensembl	human	known	70_37	missense	SNP	0.021	T
LARP1B	55132	genome.wustl.edu	37	4	129100541	129100541	+	Intron	SNP	C	C	G			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:129100541C>G	ENST00000326639.6	+	15	2107				LARP1B_ENST00000354456.3_Intron|LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Intron	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AATTGCAATGCTTGACTTTAT	0.353																																																	0													74.0	78.0	76.0					4																	129100541		2203	4300	6503	SO:0001627	intron_variant	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1897-20C>G	4.37:g.129100541C>G			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	RNA	SNP	-	NULL	ENST00000326639.6	37	NULL	CCDS3738.1	4																																																																																			LARP1B	-	-		0.353	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	C	NM_018078		129100541	+1	no_errors	ENST00000503725	ensembl	human	known	70_37	rna	SNP	1.000	G
LCE2B	26239	genome.wustl.edu	37	1	152659559	152659559	+	Silent	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:152659559C>T	ENST00000368780.3	+	2	294	c.240C>T	c.(238-240)ctC>ctT	p.L80L	LCE2B_ENST00000417924.2_Silent_p.L80L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	80	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCCGTCTCTTCCACCGGC	0.692																																																	0													49.0	64.0	59.0					1																	152659559		2202	4293	6495	SO:0001819	synonymous_variant	26239			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.240C>T	1.37:g.152659559C>T			Q5TA80	Silent	SNP	NULL	p.L80	ENST00000368780.3	37	c.240	CCDS1020.1	1																																																																																			LCE2B	-	NULL		0.692	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2B	HGNC	protein_coding	OTTHUMT00000034524.1	C	NM_014357		152659559	+1	no_errors	ENST00000368780	ensembl	human	known	70_37	silent	SNP	0.000	T
LINC00301	283197	genome.wustl.edu	37	11	60428208	60428208	+	lincRNA	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr11:60428208G>A	ENST00000320202.4	+	0	572					NR_026946.1		Q8NCQ3	NC301_HUMAN	long intergenic non-protein coding RNA 301							integral component of membrane (GO:0016021)											ATCAACTCAGGATCCAGTAGT	0.383																																																	0																																												283197			AK058123		11q12.2	2012-10-12	2011-08-10	2011-08-10	ENSG00000181995	ENSG00000181995		"""Long non-coding RNAs"""	28603	non-coding RNA	RNA, long non-coding			"""chromosome 11 open reading frame 64"", ""non-protein coding RNA 301"""	C11orf64, NCRNA00301		12477932	Standard	NR_026946		Approved	MGC39681	uc001npt.3	Q8NCQ3	OTTHUMG00000141269		11.37:g.60428208G>A				RNA	SNP	-	NULL	ENST00000320202.4	37	NULL		11																																																																																			LINC00301	-	-		0.383	LINC00301-001	KNOWN	basic	lincRNA	LINC00301	HGNC	lincRNA	OTTHUMT00000280451.1	G	NR_026946		60428208	+1	no_errors	ENST00000320202	ensembl	human	known	70_37	rna	SNP	0.081	A
FAM230A	653203	genome.wustl.edu	37	22	20710592	20710592	+	Missense_Mutation	SNP	C	C	T	rs571428423	byFrequency	TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr22:20710592C>T	ENST00000434783.3	+	8	2508	c.2324C>T	c.(2323-2325)aCg>aTg	p.T775M	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		CACACGAGGACGCCGTCCAGG	0.667													N|||	3	0.000599042	0.0023	0.0	5008	,	,		15549	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	101060787			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.2324C>T	22.37:g.20710592C>T	ENSP00000463576:p.Thr775Met			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.T775M	ENST00000434783.3	37	c.2324		22																																																																																			AC007731.1	-	NULL		0.667	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC101060787	Clone_based_vega_gene	protein_coding	OTTHUMT00000319609.4	C			20710592	+1	no_errors	ENST00000434783	ensembl	human	putative	70_37	missense	SNP	0.000	T
LRRC7	57554	genome.wustl.edu	37	1	70504040	70504040	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:70504040C>T	ENST00000035383.5	+	19	2449	c.2419C>T	c.(2419-2421)Cgc>Tgc	p.R807C	LRRC7_ENST00000310961.5_Missense_Mutation_p.R812C|LRRC7_ENST00000415775.2_Missense_Mutation_p.R91C	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	807						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCGCATGGACGCAGGCCTTT	0.483																																																	0													122.0	108.0	113.0					1																	70504040		2203	4300	6503	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2419C>T	1.37:g.70504040C>T	ENSP00000035383:p.Arg807Cys		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R807C	ENST00000035383.5	37	c.2419	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137721	0.77775	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.58358	0.34;0.44;1.55	5.53	5.53	0.82687	.	0.058292	0.64402	D	0.000001	T	0.64594	0.2612	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.993	T	0.66980	-0.5786	10	0.87932	D	0	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	91;807;807	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	C	812;807;91;630	ENSP00000309245:R812C;ENSP00000035383:R807C;ENSP00000394867:R91C	ENSP00000035383:R807C	R	+	1	0	LRRC7	70276628	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.434000	0.80377	2.614000	0.88457	0.467000	0.42956	CGC	LRRC7	-	NULL		0.483	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	C	NM_020794		70504040	+1	no_errors	ENST00000035383	ensembl	human	known	70_37	missense	SNP	1.000	T
MANSC1	54682	genome.wustl.edu	37	12	12491469	12491469	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:12491469G>C	ENST00000535902.1	-	3	812	c.249C>G	c.(247-249)atC>atG	p.I83M	MANSC1_ENST00000396349.3_Missense_Mutation_p.I49M|MANSC1_ENST00000545735.1_Missense_Mutation_p.I2M			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	83	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GAGTGTCGAAGATCATCAAGT	0.403																																																	0													175.0	170.0	172.0					12																	12491469		2203	4300	6503	SO:0001583	missense	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.249C>G	12.37:g.12491469G>C	ENSP00000438205:p.Ile83Met		Q8NEC1|Q9NW60	Missense_Mutation	SNP	pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC	p.I83M	ENST00000535902.1	37	c.249	CCDS8648.1	12	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448256	0.63178	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.28454	1.61;1.61;1.61	5.68	2.83	0.33086	Seven cysteines (1);Seven cysteines, N-terminal (2);	0.207947	0.24256	N	0.040133	T	0.46054	0.1373	M	0.61703	1.905	0.34640	D	0.720524	D;D;D	0.89917	0.959;0.959;1.0	P;P;D	0.87578	0.791;0.791;0.998	T	0.56811	-0.7917	10	0.87932	D	0	-13.3477	5.1318	0.14915	0.1798:0.1724:0.6478:0.0	.	17;49;83	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	M	83;49;2;2	ENSP00000438205:I83M;ENSP00000379638:I49M;ENSP00000445303:I2M	ENSP00000347765:I2M	I	-	3	3	MANSC1	12382736	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.261000	0.32980	0.730000	0.32425	0.563000	0.77884	ATC	MANSC1	-	pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC		0.403	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANSC1	HGNC	protein_coding	OTTHUMT00000400144.1	G	NM_018050		12491469	-1	no_errors	ENST00000535902	ensembl	human	known	70_37	missense	SNP	1.000	C
MC2R	4158	genome.wustl.edu	37	18	13884993	13884993	+	Silent	SNP	C	C	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr18:13884993C>A	ENST00000327606.3	-	2	705	c.525G>T	c.(523-525)gtG>gtT	p.V175V		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	175					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGAAGGTGATCACTGTGGGCA	0.567																																					Colon(141;1584 1782 35999 48227 48692)												0													162.0	134.0	144.0					18																	13884993		2203	4300	6503	SO:0001819	synonymous_variant	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.525G>T	18.37:g.13884993C>A			A8K016|Q3MI45|Q504X6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn	p.V175	ENST00000327606.3	37	c.525	CCDS11869.1	18																																																																																			MC2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	HGNC	protein_coding	OTTHUMT00000254639.2	C			13884993	-1	no_errors	ENST00000327606	ensembl	human	known	70_37	silent	SNP	0.988	A
MGAM	8972	genome.wustl.edu	37	7	141778220	141778220	+	Intron	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:141778220G>A	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.E1866K	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)	TTACCCTGATGAGAATGGTGA	0.448																																																	0																																										SO:0001627	intron_variant	8972			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.4618+12952G>A	7.37:g.141778220G>A			Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.E1867K	ENST00000549489.2	37	c.5599	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	8.798	0.932139	0.18131	.	.	ENSG00000257335	ENST00000475668	.	.	.	4.89	-1.18	0.09617	.	.	.	.	.	T	0.23688	0.0573	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18398	-1.0338	5	0.02654	T	1	.	19.3281	0.94270	0.0:0.6895:0.3105:0.0	.	.	.	.	K	1867	.	ENSP00000417515:E1867K	E	+	1	0	MGAM	141424689	0.000000	0.05858	0.102000	0.21198	0.812000	0.45895	-0.456000	0.06754	-0.082000	0.12640	0.556000	0.70494	GAG	MGAM	-	pfam_P_trefoil,smart_P_trefoil		0.448	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141778220	+1	no_errors	ENST00000475668	ensembl	human	putative	70_37	missense	SNP	0.007	A
KMT2D	8085	genome.wustl.edu	37	12	49436343	49436343	+	Splice_Site	SNP	C	C	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:49436343C>A	ENST00000301067.7	-	27	5867		c.e27+1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAGACACCAACCTAGAATCCA	0.582																																																	0													64.0	72.0	70.0					12																	49436343		2052	4185	6237	SO:0001630	splice_region_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5867+1G>T	12.37:g.49436343C>A			O14687	Splice_Site	SNP	-	e27+1	ENST00000301067.7	37	c.5867+1	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716874	0.68844	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0095	0.80391	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47722610	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.558000	0.60789	2.514000	0.84764	0.561000	0.74099	.	MLL2	-	-		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C		Intron	49436343	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	splice_site	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151836855	151836855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:151836855G>A	ENST00000262189.6	-	56	14583	c.14365C>T	c.(14365-14367)Cga>Tga	p.R4789*	KMT2C_ENST00000485655.2_5'UTR|KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R4846*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4789	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCAATGTCTCGAGCAGCATAC	0.413																																																	0													207.0	172.0	184.0					7																	151836855		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14365C>T	7.37:g.151836855G>A	ENSP00000262189:p.Arg4789*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R4846*	ENST00000262189.6	37	c.14536	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	57|57	27.711702|27.711702	0.99972|0.99972	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	4.67|4.67	2.25|2.25	0.28309|0.28309	.|.	0.132302|.	0.33712|.	U|.	0.004626|.	.|T	.|0.57315	.|0.2045	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46816	.|-0.9164	.|4	0.02654|.	T|.	1|.	.|.	8.3143|8.3143	0.32091|0.32091	0.0:0.0721:0.4122:0.5157|0.0:0.0721:0.4122:0.5157	.|.	.|.	.|.	.|.	X|L	4789;4846;1402|2345	.|.	ENSP00000262189:R4789X|.	R|S	-|-	1|2	2|0	MLL3|MLL3	151467788|151467788	0.943000|0.943000	0.32029|0.32029	0.996000|0.996000	0.52242|0.52242	0.983000|0.983000	0.72400|0.72400	1.111000|1.111000	0.31159|0.31159	-0.031000|-0.031000	0.13781|0.13781	-1.088000|-1.088000	0.02184|0.02184	CGA|TCG	MLL3	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151836855	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MT-CO1	4512	genome.wustl.edu	37	M	7323	7324	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrM:7323_7324insT	ENST00000361624.2	+	1	1420_1421	c.1420_1421insT	c.(1420-1422)gaafs	p.E474fs	MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	474					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCATGATTTGAGAAGCCTTCGC	0.426																																																	0																																										SO:0001589	frameshift_variant	4512					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		Exception_encountered	M.37:g.7323_7324insT	ENSP00000354499:p.Glu474fs		Q34770	Frame_Shift_Ins	INS	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.E474fs	ENST00000361624.2	37	c.1420_1421		MT																																																																																			MT-CO1	-	superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom		0.426	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	YP_003024028		7324	+1	no_errors	ENST00000361624	ensembl	human	known	70_37	frame_shift_ins	INS	NULL	T
MT-ND5	4540	genome.wustl.edu	37	M	13513	13513	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrM:13513G>T	ENST00000361567.2	+	1	1177	c.1177G>T	c.(1177-1179)Gac>Tac	p.D393Y	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	393			D -> N (in MELAS and MT-C1D). {ECO:0000269|PubMed:17400793, ECO:0000269|PubMed:20818383, ECO:0000269|PubMed:9299505}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TCTACTCCAAAGACCACATCA	0.473																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1177G>T	M.37:g.13513G>T	ENSP00000354813:p.Asp393Tyr		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.D393Y	ENST00000361567.2	37	c.1177		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.473	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		13513	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	T
MUC5B	727897	genome.wustl.edu	37	11	1257694	1257694	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr11:1257694C>T	ENST00000529681.1	+	24	3017	c.2959C>T	c.(2959-2961)Cgc>Tgc	p.R987C	MUC5B_ENST00000447027.1_Missense_Mutation_p.R990C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	987	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTACAAGATACGCTACATGGG	0.622																																																	0													71.0	81.0	78.0					11																	1257694		2004	4157	6161	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2959C>T	11.37:g.1257694C>T	ENSP00000436812:p.Arg987Cys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.R990C	ENST00000529681.1	37	c.2968	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946123	0.34377	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.60424	0.19;0.19	4.18	3.23	0.37069	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.79387	0.4437	M	0.91612	3.225	0.09310	N	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.928;0.991;0.993	T	0.69595	-0.5103	9	0.87932	D	0	.	11.6066	0.51035	0.1864:0.8136:0.0:0.0	.	987;1680;990	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	C	987;990;988;1057	ENSP00000436812:R987C;ENSP00000415793:R990C	ENSP00000343037:R988C	R	+	1	0	MUC5B	1214270	0.941000	0.31946	0.020000	0.16555	0.503000	0.33858	1.606000	0.36826	0.915000	0.36847	0.462000	0.41574	CGC	MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1257694	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.032	T
MYO15A	51168	genome.wustl.edu	37	17	18075537	18075537	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:18075537C>T	ENST00000205890.5	+	64	10621	c.10283C>T	c.(10282-10284)gCt>gTt	p.A3428V	MYO15A_ENST00000418233.3_Missense_Mutation_p.A692V|MYO15A_ENST00000451725.2_Silent_p.L222L|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3428	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCAACATTGCTGTGCCAGCC	0.582																																																	0													100.0	104.0	103.0					17																	18075537		2115	4219	6334	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10283C>T	17.37:g.18075537C>T	ENSP00000205890:p.Ala3428Val		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A3428V	ENST00000205890.5	37	c.10283	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624206	0.28889	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000445289	T	0.77229	-1.08	5.81	3.81	0.43845	FERM domain (1);	.	.	.	.	T	0.68522	0.3010	L	0.45137	1.4	0.80722	D	1	B;B;B;B	0.31435	0.062;0.323;0.019;0.003	B;B;B;B	0.30316	0.058;0.114;0.019;0.003	T	0.62618	-0.6816	9	0.31617	T	0.26	.	11.4243	0.50001	0.0:0.8515:0.0:0.1485	.	417;123;692;3428	B4DLV9;B4DMU9;B4DFC7;Q9UKN7	.;.;.;MYO15_HUMAN	V	3428;417;123	ENSP00000205890:A3428V	ENSP00000205890:A3428V	A	+	2	0	MYO15A	18016262	0.311000	0.24536	0.002000	0.10522	0.341000	0.28922	4.814000	0.62627	0.775000	0.33450	0.655000	0.94253	GCT	MYO15A	-	pfscan_FERM_domain		0.582	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18075537	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.095	T
NDP	4693	genome.wustl.edu	37	X	43809004	43809004	+	3'UTR	SNP	C	C	G			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:43809004C>G	ENST00000378062.5	-	0	850				NDP_ENST00000470584.1_5'UTR|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)						canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						CGAACTGCCTCTACAGTTGTC	0.507											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22.0	18.0	19.0					X																	43809004		2103	4077	6180	SO:0001624	3_prime_UTR_variant	100873919			X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.*41G>C	X.37:g.43809004C>G		919	B2R8K6|Q5JYH5	RNA	SNP	-	NULL	ENST00000378062.5	37	NULL	CCDS14262.1	X																																																																																			NDP-AS1	-	-		0.507	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDP-AS1	HGNC	protein_coding	OTTHUMT00000056309.1	C	NM_000266		43809004	+1	no_errors	ENST00000435093	ensembl	human	known	70_37	rna	SNP	0.000	G
NDUFS2	4720	genome.wustl.edu	37	1	161184091	161184091	+	3'UTR	SNP	A	A	G	rs191955041		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:161184091A>G	ENST00000367993.3	+	0	1948				NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000392179.4_3'UTR|FCER1G_ENST00000289902.1_5'Flank|FCER1G_ENST00000367992.3_5'Flank	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	gtgtgtgtgtatgtTCATGTA	0.473																																																	0																																										SO:0001624	3_prime_UTR_variant	4720			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.*108A>G	1.37:g.161184091A>G			D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	RNA	SNP	-	NULL	ENST00000367993.3	37	NULL	CCDS1224.1	1																																																																																			NDUFS2	-	-		0.473	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	A	NM_004550		161184091	+1	no_errors	ENST00000465923	ensembl	human	known	70_37	rna	SNP	0.000	G
OR1Q1	158131	genome.wustl.edu	37	9	125377520	125377520	+	Silent	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:125377520C>T	ENST00000297913.2	+	1	573	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	168					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						AACTAATCTTCTGTGCAGATA	0.488																																																	0													182.0	161.0	168.0					9																	125377520		2203	4300	6503	SO:0001819	synonymous_variant	158131				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.504C>T	9.37:g.125377520C>T			Q6IFN4|Q8NGR7|Q96R82	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F168	ENST00000297913.2	37	c.504	CCDS35125.1	9																																																																																			OR1Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1Q1	HGNC	protein_coding	OTTHUMT00000053946.1	C			125377520	+1	no_errors	ENST00000297913	ensembl	human	known	70_37	silent	SNP	0.998	T
OR4K1	79544	genome.wustl.edu	37	14	20403832	20403832	+	Missense_Mutation	SNP	C	C	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr14:20403832C>A	ENST00000285600.4	+	1	66	c.7C>A	c.(7-9)Cac>Aac	p.H3N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATACATGGCTCACACAAATGA	0.328																																																	0													264.0	302.0	289.0					14																	20403832		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.7C>A	14.37:g.20403832C>A	ENSP00000285600:p.His3Asn		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H3N	ENST00000285600.4	37	c.7	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	3.106	-0.183690	0.06340	.	.	ENSG00000155249	ENST00000285600	T	0.02944	4.1	4.74	3.81	0.43845	.	0.440276	0.19681	N	0.108515	T	0.01320	0.0043	N	0.03084	-0.415	0.22710	N	0.998822	B	0.02656	0.0	B	0.01281	0.0	T	0.50259	-0.8849	10	0.20046	T	0.44	.	5.9744	0.19371	0.0:0.6845:0.2094:0.106	.	3	Q8NGD4	OR4K1_HUMAN	N	3	ENSP00000285600:H3N	ENSP00000285600:H3N	H	+	1	0	OR4K1	19473672	0.000000	0.05858	1.000000	0.80357	0.343000	0.28985	-0.726000	0.04936	2.459000	0.83118	0.561000	0.74099	CAC	OR4K1	-	NULL		0.328	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	C			20403832	+1	no_errors	ENST00000285600	ensembl	human	known	70_37	missense	SNP	0.796	A
PCDH17	27253	genome.wustl.edu	37	13	58206826	58206826	+	Missense_Mutation	SNP	C	C	T	rs143494894		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr13:58206826C>T	ENST00000377918.3	+	1	172	c.146C>T	c.(145-147)cCg>cTg	p.P49L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTGGGCTTCCGCCTGCAGAG	0.677																																					Melanoma(72;952 1291 1619 12849 33676)												0								C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	24.0	26.0	25.0		146	1.6	1.0	13	dbSNP_134	25	0,8598		0,0,4299	no	missense	PCDH17	NM_001040429.2	98	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	49/1160	58206826	1,13003	2203	4299	6502	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.146C>T	13.37:g.58206826C>T	ENSP00000367151:p.Pro49Leu		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P49L	ENST00000377918.3	37	c.146	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	1.894	-0.454782	0.04540	2.27E-4	0.0	ENSG00000118946	ENST00000377918	T	0.50548	0.74	5.55	1.64	0.23874	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.432209	0.27826	N	0.017688	T	0.29914	0.0748	L	0.33339	1.005	0.49051	D	0.99974	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.05517	-1.0880	9	.	.	.	.	6.2325	0.20742	0.1365:0.5857:0.0:0.2778	.	49;49	O14917-2;O14917	.;PCD17_HUMAN	L	49	ENSP00000367151:P49L	.	P	+	2	0	PCDH17	57104827	0.551000	0.26497	0.989000	0.46669	0.864000	0.49448	0.167000	0.16602	0.455000	0.26910	0.655000	0.94253	CCG	PCDH17	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58206826	+1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	0.978	T
PCDHB18	54660	genome.wustl.edu	37	5	140615000	140615000	+	RNA	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr5:140615000G>A	ENST00000526308.1	+	0	1063					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GAAAACATTTGAAATCCATCC	0.378																																																	0																																												54660			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615000G>A			B3KTF8	RNA	SNP	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-		0.378	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	G			140615000	+1	no_errors	ENST00000526308	ensembl	human	known	70_37	rna	SNP	0.272	A
PCDHGA4	56111	genome.wustl.edu	37	5	140737032	140737032	+	Silent	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr5:140737032C>T	ENST00000571252.1	+	1	2265	c.2265C>T	c.(2263-2265)caC>caT	p.H755H	PCDHGB2_ENST00000522605.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	755					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATTCCCACGAGGTCTCCC	0.612																																																	0													81.0	85.0	83.0					5																	140737032		2203	4300	6503	SO:0001819	synonymous_variant	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2265C>T	5.37:g.140737032C>T			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H755	ENST00000571252.1	37	c.2265	CCDS58979.1	5																																																																																			PCDHGA4	-	NULL		0.612	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	C	NM_018917		140737032	+1	no_errors	ENST00000571252	ensembl	human	known	70_37	silent	SNP	0.548	T
PHLDA3	23612	genome.wustl.edu	37	1	201437555	201437555	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:201437555G>A	ENST00000367311.3	-	1	757	c.360C>T	c.(358-360)ctC>ctT	p.L120L	PHLDA3_ENST00000367309.1_Silent_p.L120L|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	120	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						TCCCGGTCCCGAGGCTCTGCC	0.647																																																	0													53.0	61.0	58.0					1																	201437555		2203	4300	6503	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.360C>T	1.37:g.201437555G>A			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.L120	ENST00000367311.3	37	c.360	CCDS1412.1	1																																																																																			PHLDA3	-	NULL		0.647	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437555	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	0.137	A
PHLDA3	23612	genome.wustl.edu	37	1	201437741	201437741	+	Silent	SNP	G	G	A	rs371751537		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr1:201437741G>A	ENST00000367311.3	-	1	571	c.174C>T	c.(172-174)atC>atT	p.I58I	PHLDA3_ENST00000367309.1_Silent_p.I58I|PHLDA3_ENST00000485436.1_5'Flank	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	58	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						CCACGGCCTTGATGCGGGCGA	0.682																																																	0								G		0,4406		0,0,2203	38.0	43.0	41.0		174	3.8	1.0	1		41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PHLDA3	NM_012396.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		58/128	201437741	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.174C>T	1.37:g.201437741G>A			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.I58	ENST00000367311.3	37	c.174	CCDS1412.1	1																																																																																			PHLDA3	-	smart_Pleckstrin_homology		0.682	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437741	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	1.000	A
PIWIL3	440822	genome.wustl.edu	37	22	25155919	25155919	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr22:25155919G>A	ENST00000332271.5	-	3	556	c.140C>T	c.(139-141)cCg>cTg	p.P47L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	47					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCCTGCAGCGGCCGGGGTGT	0.537																																																	0													194.0	201.0	198.0					22																	25155919		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.140C>T	22.37:g.25155919G>A	ENSP00000330031:p.Pro47Leu			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.P47L	ENST00000332271.5	37	c.140	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989245	0.18966	.	.	ENSG00000184571	ENST00000332271	T	0.05139	3.49	2.52	-0.955	0.10356	.	1.493400	0.04503	U	0.381652	T	0.10078	0.0247	L	0.54323	1.7	0.09310	N	0.999999	B;D	0.63046	0.051;0.992	B;P	0.50570	0.009;0.644	T	0.23511	-1.0186	10	0.34782	T	0.22	-0.0183	2.4837	0.04594	0.2845:0.0:0.4829:0.2326	.	47;47	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	L	47	ENSP00000330031:P47L	ENSP00000330031:P47L	P	-	2	0	PIWIL3	23485919	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.301000	0.08232	-0.129000	0.11620	0.655000	0.94253	CCG	PIWIL3	-	NULL		0.537	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	G	NM_001008496		25155919	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	0.000	A
PJA1	64219	genome.wustl.edu	37	X	68381222	68381222	+	Silent	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:68381222C>T	ENST00000361478.1	-	2	2237	c.1860G>A	c.(1858-1860)ccG>ccA	p.P620P	PJA1_ENST00000374571.4_Silent_p.P565P|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374584.3_Silent_p.P432P|PJA1_ENST00000374583.1_Silent_p.P620P	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	620					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TGGACACACACGGCTTGTGGA	0.582																																																	0													63.0	49.0	54.0					X																	68381222		2203	4300	6503	SO:0001819	synonymous_variant	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1860G>A	X.37:g.68381222C>T			A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P620	ENST00000361478.1	37	c.1860	CCDS14393.1	X																																																																																			PJA1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.582	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	C	NM_145119		68381222	-1	no_errors	ENST00000361478	ensembl	human	known	70_37	silent	SNP	0.144	T
SUPT6H	6830	genome.wustl.edu	37	17	27030957	27030957	+	IGR	SNP	C	C	G			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:27030957C>G	ENST00000314616.6	+	0	6518				PROCA1_ENST00000439862.3_Missense_Mutation_p.K212N|PROCA1_ENST00000301039.2_Missense_Mutation_p.K210N|PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					tttcctttttcttctttacct	0.502																																																	0													56.0	56.0	56.0					17																	27030957		2201	4300	6501	SO:0001628	intergenic_variant	147011			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030957C>G			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2	p.K212N	ENST00000314616.6	37	c.636	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741831	0.69304	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04970	3.52;3.52	5.56	1.31	0.21738	.	0.183459	0.36234	N	0.002720	T	0.10208	0.0250	L	0.29908	0.895	0.38924	D	0.9578	D;D;D	0.69078	0.997;0.995;0.995	P;D;D	0.63877	0.831;0.919;0.919	T	0.18871	-1.0323	10	0.33940	T	0.23	-17.6175	8.0016	0.30299	0.0:0.6709:0.0:0.3291	.	238;212;210	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	N	210;212;238	ENSP00000301039:K210N;ENSP00000411400:K212N	ENSP00000301039:K210N	K	-	3	2	PROCA1	24055084	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	0.993000	0.29680	0.034000	0.15491	0.650000	0.86243	AAG	PROCA1	-	NULL		0.502	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	HGNC	protein_coding	OTTHUMT00000446422.2	C	NM_003170		27030957	-1	no_errors	ENST00000439862	ensembl	human	known	70_37	missense	SNP	1.000	G
PROM2	150696	genome.wustl.edu	37	2	95950732	95950732	+	Missense_Mutation	SNP	C	C	T	rs553459907		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:95950732C>T	ENST00000317620.9	+	15	1877	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	PROM2_ENST00000317668.4_Missense_Mutation_p.R582W|PROM2_ENST00000542147.1_Intron|PROM2_ENST00000403131.2_Missense_Mutation_p.R582W	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	582					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CAACAAGCTACGGCAGGAGTT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17713	0.001		0.0	False		,,,				2504	0.0																0													33.0	30.0	31.0					2																	95950732		2203	4299	6502	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1744C>T	2.37:g.95950732C>T	ENSP00000318270:p.Arg582Trp		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.R582W	ENST00000317620.9	37	c.1744	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	C	8.245	0.807747	0.16467	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620	T;T;T	0.44881	0.91;0.91;0.91	4.35	1.39	0.22231	.	0.549033	0.17264	N	0.180667	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.56958	D	0.05	-2.6235	8.3516	0.32305	0.0:0.5884:0.3185:0.0931	.	582	Q8N271	PROM2_HUMAN	W	582	ENSP00000385716:R582W;ENSP00000318520:R582W;ENSP00000318270:R582W	ENSP00000318270:R582W	R	+	1	2	PROM2	95314459	0.022000	0.18835	0.001000	0.08648	0.000000	0.00434	-0.029000	0.12329	-0.148000	0.11234	-1.598000	0.00824	CGG	PROM2	-	pfam_Prominin		0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	C	NM_144707		95950732	+1	no_errors	ENST00000317620	ensembl	human	known	70_37	missense	SNP	0.001	T
PSTPIP1	9051	genome.wustl.edu	37	15	77310554	77310554	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr15:77310554G>A	ENST00000558012.1	+	2	591	c.102G>A	c.(100-102)aaG>aaA	p.K34K	PSTPIP1_ENST00000379595.3_Silent_p.K34K|PSTPIP1_ENST00000559295.1_Silent_p.K34K|PSTPIP1_ENST00000267939.5_Silent_p.K33K	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	34	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)		p.K34N(1)		breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						ATGGCAGGAAGATGTGCAAAG	0.627																																																	1	Substitution - Missense(1)	ovary(1)											32.0	39.0	36.0					15																	77310554		2152	4241	6393	SO:0001819	synonymous_variant	9051			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.102G>A	15.37:g.77310554G>A			B5BU74|B5BUK4|O43585|O95657	Silent	SNP	pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH	p.K99	ENST00000558012.1	37	c.297	CCDS45312.1	15																																																																																			PSTPIP1	-	pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH		0.627	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	G	NM_003978		77310554	+1	no_errors	ENST00000559785	ensembl	human	known	70_37	silent	SNP	1.000	A
RAPGEF2	9693	genome.wustl.edu	37	4	160275088	160275088	+	Missense_Mutation	SNP	C	C	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:160275088C>A	ENST00000264431.4	+	22	4477	c.4058C>A	c.(4057-4059)tCc>tAc	p.S1353Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1353					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGGATGTTTCCATTGAAGCC	0.537																																																	0													46.0	47.0	47.0					4																	160275088		1961	4164	6125	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4058C>A	4.37:g.160275088C>A	ENSP00000264431:p.Ser1353Tyr		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1353Y	ENST00000264431.4	37	c.4058	CCDS43277.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.50|10.50	1.366559|1.366559	0.24771|0.24771	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000505026|ENST00000264431	.|T	.|0.42131	.|0.98	6.17|6.17	5.33|5.33	0.75918|0.75918	.|.	.|0.372371	.|0.30020	.|N	.|0.010610	T|T	0.31358|0.31358	0.0794|0.0794	N|N	0.14661|0.14661	0.345|0.345	0.29265|0.29265	N|N	0.871043|0.871043	.|P	.|0.47545	.|0.897	.|B	.|0.42593	.|0.392	T|T	0.23655|0.23655	-1.0182|-1.0182	5|10	.|0.66056	.|D	.|0.02	.|.	15.6272|15.6272	0.76870|0.76870	0.0:0.9346:0.0:0.0653|0.0:0.9346:0.0:0.0653	.|.	.|1353	.|Q9Y4G8	.|RPGF2_HUMAN	L|Y	287|1353	.|ENSP00000264431:S1353Y	.|ENSP00000264431:S1353Y	F|S	+|+	3|2	2|0	RAPGEF2|RAPGEF2	160494538|160494538	0.539000|0.539000	0.26402|0.26402	0.092000|0.092000	0.20876|0.20876	0.006000|0.006000	0.05464|0.05464	2.252000|2.252000	0.43196|0.43196	1.632000|1.632000	0.50472|0.50472	-0.140000|-0.140000	0.14226|0.14226	TTC|TCC	RAPGEF2	-	NULL		0.537	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	C	NM_014247		160275088	+1	no_errors	ENST00000264431	ensembl	human	known	70_37	missense	SNP	0.616	A
RPGRIP1	57096	genome.wustl.edu	37	14	21769221	21769221	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr14:21769221G>A	ENST00000400017.2	+	3	315	c.315G>A	c.(313-315)caG>caA	p.Q105Q	RPGRIP1_ENST00000206660.6_Silent_p.Q105Q|RPGRIP1_ENST00000556336.1_Silent_p.Q105Q|RPGRIP1_ENST00000557771.1_Silent_p.Q105Q	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	105					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCGCGGGCAGAAGGCGGGAT	0.731																																																	0													17.0	21.0	20.0					14																	21769221		1950	4108	6058	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.315G>A	14.37:g.21769221G>A			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.Q105	ENST00000400017.2	37	c.315	CCDS45080.1	14																																																																																			RPGRIP1	-	NULL		0.731	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21769221	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	silent	SNP	0.000	A
SCARB2	950	genome.wustl.edu	37	4	77097666	77097666	+	Missense_Mutation	SNP	C	C	T	rs375205937		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr4:77097666C>T	ENST00000264896.2	-	5	977	c.628G>A	c.(628-630)Gat>Aat	p.D210N	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	210					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TAGTCTCCATCATTAGTCCCA	0.333																																																	0								C	ASN/ASP,	0,4404		0,0,2202	98.0	100.0	99.0		628,	5.3	1.0	4		99	1,8593	1.2+/-3.3	0,1,4296	no	missense,intron	SCARB2	NM_005506.3,NM_001204255.1	23,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,	210/479,	77097666	1,12997	2202	4297	6499	SO:0001583	missense	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.628G>A	4.37:g.77097666C>T	ENSP00000264896:p.Asp210Asn		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen	p.D210N	ENST00000264896.2	37	c.628	CCDS3577.1	4	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789787	0.90367	0.0	1.16E-4	ENSG00000138760	ENST00000264896	T	0.74209	-0.82	5.33	5.33	0.75918	.	0.045854	0.85682	D	0.000000	D	0.85080	0.5615	M	0.82823	2.61	0.80722	D	1	P	0.50943	0.94	P	0.56343	0.796	D	0.86566	0.1844	10	0.54805	T	0.06	.	17.808	0.88607	0.0:1.0:0.0:0.0	.	210	Q14108	SCRB2_HUMAN	N	210	ENSP00000264896:D210N	ENSP00000264896:D210N	D	-	1	0	SCARB2	77316690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.778000	0.75043	2.503000	0.84419	0.650000	0.86243	GAT	SCARB2	-	pfam_CD36		0.333	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	HGNC	protein_coding	OTTHUMT00000252403.1	C	NM_005506		77097666	-1	no_errors	ENST00000264896	ensembl	human	known	70_37	missense	SNP	1.000	T
TIPIN	54962	genome.wustl.edu	37	15	66639623	66639623	+	Intron	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr15:66639623G>A	ENST00000261881.4	-	6	561				SCARNA14_ENST00000516903.1_RNA|TIPIN_ENST00000367709.4_Intron|Y_RNA_ENST00000411339.1_RNA	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein						cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TAATGTGTGTGACTGTCTATG	0.408																																																	0													33.0	28.0	30.0					15																	66639623		876	1991	2867	SO:0001627	intron_variant	692149			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.475+1774C>T	15.37:g.66639623G>A			B2CW64|Q9NWZ6	RNA	SNP	-	NULL	ENST00000261881.4	37	NULL	CCDS10215.1	15																																																																																			SCARNA14	-	-		0.408	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARNA14	HGNC	protein_coding	OTTHUMT00000256897.2	G	NM_017858		66639623	-1	no_errors	ENST00000516903	ensembl	human	known	70_37	rna	SNP	1.000	A
SLC18A1	6570	genome.wustl.edu	37	8	20036736	20036736	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr8:20036736G>A	ENST00000276373.5	-	3	650	c.384C>T	c.(382-384)ggC>ggT	p.G128G	SLC18A1_ENST00000437980.1_Silent_p.G128G|SLC18A1_ENST00000519026.1_Silent_p.G128G|SLC18A1_ENST00000265808.7_Silent_p.G128G|SLC18A1_ENST00000440926.1_Silent_p.G128G|SLC18A1_ENST00000381608.4_Silent_p.G128G	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	128					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	AGAAACCTGTGCCTTGCAAGC	0.522																																																	0													137.0	116.0	123.0					8																	20036736		2203	4300	6503	SO:0001819	synonymous_variant	6570				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.384C>T	8.37:g.20036736G>A			E9PDJ5|Q9BRE4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.G128	ENST00000276373.5	37	c.384	CCDS6013.1	8																																																																																			SLC18A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.522	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	G			20036736	-1	no_errors	ENST00000276373	ensembl	human	known	70_37	silent	SNP	0.769	A
SLC38A4	55089	genome.wustl.edu	37	12	47170786	47170786	+	Splice_Site	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:47170786G>A	ENST00000447411.1	-	12	1281	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	SLC38A4_ENST00000266579.4_Splice_Site_p.R359W	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	359					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTCCGGGACCGACTGGAAAAA	0.353																																																	0													73.0	75.0	74.0					12																	47170786		2203	4299	6502	SO:0001630	splice_region_variant	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1074-1C>T	12.37:g.47170786G>A			A8K553	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R359W	ENST00000447411.1	37	c.1075	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262998	0.80358	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02472	4.28;4.28	5.96	5.06	0.68205	.	0.059006	0.64402	D	0.000001	T	0.18551	0.0445	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01428	-1.1357	10	0.87932	D	0	-11.2441	16.6514	0.85203	0.0:0.0:0.8691:0.1309	.	359	Q969I6	S38A4_HUMAN	W	359	ENSP00000389843:R359W;ENSP00000266579:R359W	ENSP00000266579:R359W	R	-	1	2	SLC38A4	45457053	1.000000	0.71417	0.997000	0.53966	0.579000	0.36224	7.912000	0.87465	1.514000	0.48869	0.655000	0.94253	CGG	SLC38A4	-	pfam_AA_transpt_TM		0.353	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	G		Missense_Mutation	47170786	-1	no_errors	ENST00000266579	ensembl	human	known	70_37	missense	SNP	1.000	A
ERH	2079	genome.wustl.edu	37	14	69864945	69864945	+	Intron	SNP	C	C	T	rs202027027		TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr14:69864945C>T	ENST00000557016.1	-	1	397				SLC39A9_ENST00000336643.5_5'Flank|SLC39A9_ENST00000557046.1_5'Flank|SLC39A9_ENST00000556605.1_5'Flank|SLC39A9_ENST00000031146.4_5'Flank|ERH_ENST00000216520.6_Intron|ERH_ENST00000555373.1_Intron	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)						cell cycle (GO:0007049)|nucleobase-containing compound metabolic process (GO:0006139)|osteoblast differentiation (GO:0001649)|pyrimidine nucleoside metabolic process (GO:0006213)	membrane (GO:0016020)|midbody (GO:0030496)	poly(A) RNA binding (GO:0044822)								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		AGGCCTTTCTCACCATCGCGC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		12986	0.001		0.0	False		,,,				2504	0.0																0													30.0	32.0	31.0					14																	69864945		2203	4300	6503	SO:0001627	intron_variant	55334			BC014301	CCDS9794.1	14q24.1	2011-05-18	2001-11-28		ENSG00000100632	ENSG00000100632			3447	protein-coding gene	gene with protein product		601191	"""enhancer of rudimentary (Drosophila) homolog"""			8786099, 9074495	Standard	NM_004450		Approved	DROER	uc001xlc.2	P84090		ENST00000557016.1:c.3+2G>A	14.37:g.69864945C>T			B2R5H2|P70659|Q14259	RNA	SNP	-	NULL	ENST00000557016.1	37	NULL	CCDS9794.1	14																																																																																			SLC39A9	-	-		0.652	ERH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A9	HGNC	protein_coding	OTTHUMT00000412990.1	C	NM_004450		69864945	+1	no_errors	ENST00000556125	ensembl	human	known	70_37	rna	SNP	1.000	T
SLC6A2	6530	genome.wustl.edu	37	16	55727946	55727946	+	Missense_Mutation	SNP	A	A	G			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr16:55727946A>G	ENST00000379906.2	+	6	1198	c.943A>G	c.(943-945)Ata>Gta	p.I315V	SLC6A2_ENST00000414754.3_Missense_Mutation_p.I315V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.I315V|SLC6A2_ENST00000567238.1_Missense_Mutation_p.I210V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.I315V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.I315V|SLC6A2_ENST00000566163.1_Missense_Mutation_p.I270V	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	315					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGCAACTCAGATATTTTTTTC	0.443																																																	0													150.0	145.0	147.0					16																	55727946		2198	4300	6498	SO:0001583	missense	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.943A>G	16.37:g.55727946A>G	ENSP00000369237:p.Ile315Val		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.I315V	ENST00000379906.2	37	c.943	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721988	0.30503	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.75704	-0.96;-0.96;-0.96	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	L	0.52759	1.655	0.54753	D	0.999989	P;B;P;P	0.40578	0.722;0.208;0.722;0.722	B;B;B;B	0.41946	0.371;0.108;0.371;0.252	T	0.71715	-0.4509	10	0.39692	T	0.17	.	13.9212	0.63933	1.0:0.0:0.0:0.0	.	315;29;210;315	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	V	315;29;315;315	ENSP00000394956:I315V;ENSP00000369237:I315V;ENSP00000219833:I315V	ENSP00000219833:I315V	I	+	1	0	SLC6A2	54285447	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.994000	0.93529	1.784000	0.52394	0.459000	0.35465	ATA	SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.443	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	A			55727946	+1	no_errors	ENST00000219833	ensembl	human	known	70_37	missense	SNP	1.000	G
SMAD6	4091	genome.wustl.edu	37	15	67073399	67073399	+	Silent	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr15:67073399C>T	ENST00000288840.5	+	4	2048	c.1017C>T	c.(1015-1017)caC>caT	p.H339H	SMAD6_ENST00000338426.4_Silent_p.H78H	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	339	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						ACTGGGAGCACCGGACGCGCG	0.667																																					Esophageal Squamous(179;72 2004 22333 39628 47290)												0													34.0	27.0	29.0					15																	67073399		2196	4298	6494	SO:0001819	synonymous_variant	4091			BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1017C>T	15.37:g.67073399C>T			A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Silent	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.H339	ENST00000288840.5	37	c.1017	CCDS10221.1	15																																																																																			SMAD6	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.667	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD6	HGNC	protein_coding	OTTHUMT00000256953.2	C	NM_005585		67073399	+1	no_errors	ENST00000288840	ensembl	human	known	70_37	silent	SNP	1.000	T
SPATA31D1	389763	genome.wustl.edu	37	9	84607539	84607539	+	Missense_Mutation	SNP	A	A	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr9:84607539A>T	ENST00000344803.2	+	4	2201	c.2154A>T	c.(2152-2154)aaA>aaT	p.K718N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	718					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCAGAGCAAAATTTCAGAGC	0.478																																																	0													53.0	49.0	50.0					9																	84607539		1836	4083	5919	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2154A>T	9.37:g.84607539A>T	ENSP00000341988:p.Lys718Asn			Missense_Mutation	SNP	NULL	p.K718N	ENST00000344803.2	37	c.2154	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	A	8.475	0.858513	0.17178	.	.	ENSG00000214929	ENST00000344803	T	0.07021	3.23	2.71	-1.39	0.08997	.	1.595400	0.03879	N	0.276879	T	0.05456	0.0144	N	0.24115	0.695	0.09310	N	1	B	0.31790	0.34	B	0.30251	0.113	T	0.34254	-0.9836	10	0.27082	T	0.32	0.0347	3.2544	0.06826	0.5778:0.0:0.1533:0.2689	.	718	Q6ZQQ2	F75D1_HUMAN	N	718	ENSP00000341988:K718N	ENSP00000341988:K718N	K	+	3	2	FAM75D1	83797359	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.037000	0.03557	-0.293000	0.08986	0.459000	0.35465	AAA	SPATA31D1	-	NULL		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	A	NM_001001670		84607539	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	T
SPNS1	83985	genome.wustl.edu	37	16	28990592	28990592	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr16:28990592G>A	ENST00000311008.11	+	4	938	c.561G>A	c.(559-561)atG>atA	p.M187I	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.M232I|SPNS1_ENST00000334536.8_Missense_Mutation_p.M187I|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000323081.8_Missense_Mutation_p.M114I|SPNS1_ENST00000352260.7_Missense_Mutation_p.M165I|RP11-264B17.4_ENST00000567209.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	187					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGAGCCGGATGCTCAGCATCT	0.657																																																	0													66.0	69.0	68.0					16																	28990592		2197	4300	6497	SO:0001583	missense	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.561G>A	16.37:g.28990592G>A	ENSP00000309945:p.Met187Ile		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M187I	ENST00000311008.11	37	c.561	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017864	0.75161	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.49	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	L	0.52573	1.65	0.80722	D	1	B;P;B;D;P	0.65815	0.357;0.562;0.107;0.995;0.562	B;B;P;D;B	0.76071	0.32;0.413;0.449;0.987;0.316	T	0.69124	-0.5228	10	0.66056	D	0.02	.	14.7147	0.69259	0.0:0.0:1.0:0.0	.	114;165;187;187;187	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2;Q9H2V7-5	.;.;SPNS1_HUMAN;.;.	I	187;187;165;114	ENSP00000309945:M187I;ENSP00000335494:M187I;ENSP00000306050:M165I;ENSP00000318228:M114I	ENSP00000309945:M187I	M	+	3	0	SPNS1	28898093	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	5.997000	0.70646	2.339000	0.79563	0.561000	0.74099	ATG	SPNS1	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.657	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	G	NM_032038		28990592	+1	no_errors	ENST00000311008	ensembl	human	known	70_37	missense	SNP	1.000	A
SUPV3L1	6832	genome.wustl.edu	37	10	70968684	70968684	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr10:70968684G>C	ENST00000359655.4	+	15	2314	c.2254G>C	c.(2254-2256)Gaa>Caa	p.E752Q		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	752	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAACAGCTAGAAAAAGAGTG	0.478																																																	0													69.0	64.0	66.0					10																	70968684		2203	4300	6503	SO:0001583	missense	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2254G>C	10.37:g.70968684G>C	ENSP00000352678:p.Glu752Gln		A8K301|O43630	Missense_Mutation	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.E752Q	ENST00000359655.4	37	c.2254	CCDS7287.1	10	.	.	.	.	.	.	.	.	.	.	G	5.877	0.345898	0.11126	.	.	ENSG00000156502	ENST00000359655	T	0.30182	1.54	6.01	3.81	0.43845	.	0.148455	0.64402	N	0.000012	T	0.21631	0.0521	L	0.33485	1.01	0.34143	D	0.666636	B	0.06786	0.001	B	0.04013	0.001	T	0.21314	-1.0249	10	0.14656	T	0.56	-8.8999	12.6045	0.56514	0.0728:0.1245:0.8028:0.0	.	752	Q8IYB8	SUV3_HUMAN	Q	752	ENSP00000352678:E752Q	ENSP00000352678:E752Q	E	+	1	0	SUPV3L1	70638690	1.000000	0.71417	0.056000	0.19401	0.812000	0.45895	4.214000	0.58527	1.516000	0.48900	0.650000	0.86243	GAA	SUPV3L1	-	NULL		0.478	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	G	NM_003171		70968684	+1	no_errors	ENST00000359655	ensembl	human	known	70_37	missense	SNP	0.683	C
SYT3	84258	genome.wustl.edu	37	19	51128796	51128796	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:51128796G>A	ENST00000338916.4	-	6	2061	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	SYT3_ENST00000600079.1_Silent_p.I476I|SYT3_ENST00000544769.1_Silent_p.I476I|SYT3_ENST00000593901.1_Silent_p.I476I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	476	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCCCTCGCTGATCAGGGAGG	0.597																																																	0													47.0	43.0	45.0					19																	51128796		2203	4300	6503	SO:0001819	synonymous_variant	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1428C>T	19.37:g.51128796G>A			Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.I476	ENST00000338916.4	37	c.1428	CCDS12798.1	19																																																																																			SYT3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.597	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	G	NM_032298		51128796	-1	no_errors	ENST00000338916	ensembl	human	known	70_37	silent	SNP	0.999	A
TAF1	6872	genome.wustl.edu	37	X	70603813	70603813	+	Splice_Site	SNP	T	T	G			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:70603813T>G	ENST00000373790.4	+	13	1997	c.1946T>G	c.(1945-1947)aTg>aGg	p.M649R	TAF1_ENST00000449580.1_Splice_Site_p.M649R|TAF1_ENST00000276072.3_Splice_Site_p.M670R|TAF1_ENST00000423759.1_Splice_Site_p.M670R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	649	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.M649T(1)|p.M670T(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTGGACAGATGAGAGAACAA	0.428																																																	2	Substitution - Missense(2)	lung(2)											192.0	160.0	171.0					X																	70603813		2203	4300	6503	SO:0001630	splice_region_variant	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1945-1T>G	X.37:g.70603813T>G			A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.M649R	ENST00000373790.4	37	c.1946	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	17.09	3.301227	0.60195	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	N	0.16656	0.425	0.80722	D	1	P;P	0.39624	0.681;0.631	P;B	0.47915	0.561;0.359	T	0.20605	-1.0270	10	0.26408	T	0.33	.	15.2112	0.73225	0.0:0.0:0.0:1.0	.	649;670	P21675;P21675-2	TAF1_HUMAN;.	R	649;649;670;670	ENSP00000362895:M649R;ENSP00000389000:M649R;ENSP00000406549:M670R;ENSP00000276072:M670R	ENSP00000276072:M670R	M	+	2	0	TAF1	70520538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.532000	0.81985	1.976000	0.57569	0.486000	0.48141	ATG	TAF1	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.428	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	T	NM_004606	Missense_Mutation	70603813	+1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	G
TAS2R50	259296	genome.wustl.edu	37	12	11139426	11139426	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr12:11139426G>A	ENST00000506868.1	-	1	85	c.34C>T	c.(34-36)Cta>Tta	p.L12L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	12					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.L12V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ACCATTATTAGAATTGAAAAA	0.318																																																	1	Substitution - Missense(1)	ovary(1)											31.0	37.0	35.0					12																	11139426		2181	4285	6466	SO:0001819	synonymous_variant	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.34C>T	12.37:g.11139426G>A			P59545|Q2M255|Q645Y0	Silent	SNP	pfam_TAS2_rcpt	p.L12	ENST00000506868.1	37	c.34	CCDS8638.1	12																																																																																			TAS2R50	-	pfam_TAS2_rcpt		0.318	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2	G	NM_176890		11139426	-1	no_errors	ENST00000506868	ensembl	human	known	70_37	silent	SNP	0.000	A
TBC1D16	125058	genome.wustl.edu	37	17	77921490	77921490	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:77921490G>C	ENST00000310924.2	-	9	1797	c.1682C>G	c.(1681-1683)aCg>aGg	p.T561R	TBC1D16_ENST00000572862.1_Missense_Mutation_p.T199R|TBC1D16_ENST00000576768.1_Missense_Mutation_p.T186R|TBC1D16_ENST00000340848.7_Missense_Mutation_p.T199R|TBC1D16_ENST00000570373.1_Missense_Mutation_p.T200R	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	561	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GACGAAGATCGTGTTCTGCAT	0.597																																					Ovarian(14;397 562 4850 31922 49378)												0													165.0	124.0	138.0					17																	77921490		2203	4300	6503	SO:0001583	missense	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1682C>G	17.37:g.77921490G>C	ENSP00000309794:p.Thr561Arg		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T561R	ENST00000310924.2	37	c.1682	CCDS11766.1	17	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912557	0.92178	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.04360	3.64;3.64	5.57	5.57	0.84162	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	L	0.54863	1.705	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.81914	0.991;0.995;0.995;0.988	T	0.00051	-1.2195	10	0.66056	D	0.02	-42.494	19.5469	0.95302	0.0:0.0:1.0:0.0	.	221;561;561;199	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	R	199;561	ENSP00000341517:T199R;ENSP00000309794:T561R	ENSP00000309794:T561R	T	-	2	0	TBC1D16	75536085	1.000000	0.71417	0.919000	0.36401	0.882000	0.50991	9.416000	0.97383	2.619000	0.88677	0.561000	0.74099	ACG	TBC1D16	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.597	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D16	HGNC	protein_coding	OTTHUMT00000437145.1	G	NM_019020		77921490	-1	no_errors	ENST00000310924	ensembl	human	known	70_37	missense	SNP	1.000	C
TEX13A	56157	genome.wustl.edu	37	X	104464159	104464159	+	Silent	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chrX:104464159C>T	ENST00000413579.1	-	5	828	c.717G>A	c.(715-717)gaG>gaA	p.E239E	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R240K|TEX13A_ENST00000372578.3_Missense_Mutation_p.R240K|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	239							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCTCCAGCTTCTCTGTGGTCT	0.617																																																	0													30.0	31.0	30.0					X																	104464159		1932	4116	6048	SO:0001819	synonymous_variant	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.717G>A	X.37:g.104464159C>T			B1B1G8|Q32NB6	Missense_Mutation	SNP	NULL	p.R240K	ENST00000413579.1	37	c.719		X	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956925	0.18507	.	.	ENSG00000133149	ENST00000372578;ENST00000372575	.	.	.	2.54	-1.59	0.08453	.	.	.	.	.	T	0.33818	0.0876	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37820	-0.9689	5	0.87932	D	0	.	2.6648	0.05041	0.2202:0.3259:0.0:0.4539	.	.	.	.	K	240	.	ENSP00000361656:R240K	R	-	2	0	TEX13A	104350815	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.003000	0.13083	-0.611000	0.05709	0.513000	0.50165	AGA	TEX13A	-	NULL		0.617	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	HGNC	protein_coding		C	NM_031274		104464159	-1	no_errors	ENST00000372575	ensembl	human	known	70_37	missense	SNP	0.000	T
TMEM44	93109	genome.wustl.edu	37	3	194331718	194331718	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr3:194331718G>C	ENST00000392432.2	-	9	1290	c.1085C>G	c.(1084-1086)tCa>tGa	p.S362*	TMEM44_ENST00000347147.4_Nonsense_Mutation_p.S315*|TMEM44_ENST00000381975.3_Nonsense_Mutation_p.S315*|TMEM44_ENST00000473092.1_Nonsense_Mutation_p.S315*|TMEM44_ENST00000273580.7_Nonsense_Mutation_p.S315*	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	362						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTTGCAGTGTGACAGTGTGGT	0.512																																																	0													147.0	111.0	123.0					3																	194331718		2203	4300	6503	SO:0001587	stop_gained	93109			AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.1085C>G	3.37:g.194331718G>C	ENSP00000376227:p.Ser362*		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Nonsense_Mutation	SNP	NULL	p.S362*	ENST00000392432.2	37	c.1085	CCDS54699.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610244	0.87258	.	.	ENSG00000145014	ENST00000392432;ENST00000273580;ENST00000432352;ENST00000347147;ENST00000381975;ENST00000473092;ENST00000452358;ENST00000429560	.	.	.	5.13	4.23	0.50019	.	0.187829	0.34628	N	0.003820	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.052	11.7369	0.51769	0.0:0.1785:0.8215:0.0	.	.	.	.	X	362;315;73;315;315;315;148;47	.	ENSP00000273580:S315X	S	-	2	0	TMEM44	195813007	0.142000	0.22610	0.031000	0.17742	0.941000	0.58515	1.932000	0.40143	1.239000	0.43787	0.591000	0.81541	TCA	TMEM44	-	NULL		0.512	TMEM44-002	KNOWN	basic|CCDS	protein_coding	TMEM44	HGNC	protein_coding	OTTHUMT00000342750.1	G	NM_138399		194331718	-1	no_errors	ENST00000392432	ensembl	human	known	70_37	nonsense	SNP	0.069	C
TNFSF12	8742	genome.wustl.edu	37	17	7452616	7452616	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr17:7452616C>T	ENST00000293825.6	+	1	409	c.146C>T	c.(145-147)tCg>tTg	p.S49L	TNFSF12_ENST00000557233.1_Missense_Mutation_p.S49L|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.S49L	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	49					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				AGCCGGGCATCGCTGTCCGCC	0.741																																																	0													2.0	2.0	2.0					17																	7452616		1812	3556	5368	SO:0001583	missense	407977			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.146C>T	17.37:g.7452616C>T	ENSP00000293825:p.Ser49Leu		Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.S49L	ENST00000293825.6	37	c.146	CCDS11109.1	17	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523461	0.64747	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	D;D	0.97620	-4.46;-4.46	5.01	4.04	0.47022	.	0.512179	0.17835	N	0.160397	D	0.92718	0.7685	N	0.24115	0.695	0.24947	N	0.991819	B;B	0.11235	0.004;0.002	B;B	0.04013	0.001;0.001	D	0.87200	0.2240	10	0.72032	D	0.01	-0.528	9.3142	0.37924	0.0:0.9027:0.0:0.0973	.	49;49	Q8IZK7;O43508	.;TNF12_HUMAN	L	49	ENSP00000451451:S49L;ENSP00000293826:S49L	ENSP00000293825:S49L	S	+	2	0	TNFSF12-TNFSF13;TNFSF12	7393340	0.996000	0.38824	0.988000	0.46212	0.981000	0.71138	1.346000	0.33964	1.349000	0.45751	0.561000	0.74099	TCG	TNFSF12-TNFSF13	-	NULL		0.741	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12-TNFSF13	HGNC	protein_coding	OTTHUMT00000226951.2	C	NM_003809		7452616	+1	no_errors	ENST00000293826	ensembl	human	known	70_37	missense	SNP	0.985	T
UBR3	130507	genome.wustl.edu	37	2	170930076	170930076	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:170930076G>C	ENST00000272793.5	+	36	5208	c.5158G>C	c.(5158-5160)Gag>Cag	p.E1720Q	UBR3_ENST00000418381.1_Missense_Mutation_p.E1720Q|UBR3_ENST00000392631.1_Missense_Mutation_p.E541Q			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1720					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1720K(1)|p.E573K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GTGGTGTTTTGAGATAAAATC	0.388																																																	2	Substitution - Missense(2)	cervix(2)											109.0	106.0	107.0					2																	170930076		2203	4299	6502	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5158G>C	2.37:g.170930076G>C	ENSP00000272793:p.Glu1720Gln		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E1720Q	ENST00000272793.5	37	c.5158		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.77|11.77	1.737744|1.737744	0.30774|0.30774	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57888|0.57888	0.2084|0.2084	L|L	0.28274|0.28274	0.84|0.84	0.49483|0.49483	D|D	0.999792|0.999792	D;D;D|.	0.71674|.	0.997;0.998;0.993|.	D;D;D|.	0.80764|.	0.986;0.994;0.979|.	T|T	0.51387|0.51387	-0.8712|-0.8712	10|5	0.13108|.	T|.	0.6|.	.|.	19.5612|19.5612	0.95373|0.95373	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1720;541;1749|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	Q|F	1720;1749;1720;541;420|781	ENSP00000272793:E1720Q;ENSP00000396068:E1720Q;ENSP00000376408:E541Q;ENSP00000389097:E420Q|.	ENSP00000272793:E1720Q|.	E|L	+|+	1|3	0|2	UBR3|UBR3	170638322|170638322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.923000|8.923000	0.92808|0.92808	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GAG|TTG	UBR3	-	NULL		0.388	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	G	NM_172070		170930076	+1	no_errors	ENST00000272793	ensembl	human	known	70_37	missense	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179590293	179590293	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:179590293C>T	ENST00000591111.1	-	69	19911	c.19687G>A	c.(19687-19689)Gcc>Acc	p.A6563T	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A6880T|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A5636T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12166	Ig-like 47.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A5636S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGGCTGGGCGCCTTCTATG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											103.0	94.0	97.0					2																	179590293		1845	4107	5952	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19687G>A	2.37:g.179590293C>T	ENSP00000465570:p.Ala6563Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A5636T	ENST00000591111.1	37	c.16906		2	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245436	0.39697	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	5.86	0.183	0.15082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43166	0.1235	N	0.20766	0.605	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34030	-0.9845	9	0.87932	D	0	.	0.8749	0.01222	0.2375:0.3913:0.1197:0.2516	.	6563	Q8WZ42	TITIN_HUMAN	T	5636	ENSP00000343764:A5636T	ENSP00000343764:A5636T	A	-	1	0	TTN	179298538	0.850000	0.29656	0.644000	0.29465	0.996000	0.88848	1.628000	0.37060	0.076000	0.16826	0.650000	0.86243	GCC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179590293	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.980	T
UGGT2	55757	genome.wustl.edu	37	13	96508441	96508441	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr13:96508441C>G	ENST00000376747.3	-	34	4049	c.3979G>C	c.(3979-3981)Gac>Cac	p.D1327H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1327	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATGATTTTGTCCACTGCTAGT	0.348																																																	0													95.0	97.0	97.0					13																	96508441		2203	4300	6503	SO:0001583	missense	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3979G>C	13.37:g.96508441C>G	ENSP00000365938:p.Asp1327His		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.D1327H	ENST00000376747.3	37	c.3979	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935002	0.73442	.	.	ENSG00000102595	ENST00000376747	T	0.30182	1.54	5.67	4.79	0.61399	.	0.147301	0.64402	D	0.000013	T	0.44393	0.1291	L	0.45698	1.435	0.80722	D	1	P	0.49559	0.925	P	0.59761	0.863	T	0.38351	-0.9665	10	0.72032	D	0.01	-3.3502	12.5694	0.56328	0.0:0.9156:0.0:0.0844	.	1327	Q9NYU1	UGGG2_HUMAN	H	1327	ENSP00000365938:D1327H	ENSP00000365938:D1327H	D	-	1	0	UGGT2	95306442	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.114000	0.50383	1.299000	0.44798	0.655000	0.94253	GAC	UGGT2	-	pfam_Glyco_trans_8		0.348	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	C	NM_020121		96508441	-1	no_errors	ENST00000376747	ensembl	human	known	70_37	missense	SNP	1.000	G
UNC93A	54346	genome.wustl.edu	37	6	167708020	167708020	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr6:167708020G>A	ENST00000230256.3	+	2	278	c.103G>A	c.(103-105)Gag>Aag	p.E35K	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.E35K	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTGTACAGCGAGGAGGGCCT	0.627																																																	0													135.0	111.0	119.0					6																	167708020		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.103G>A	6.37:g.167708020G>A	ENSP00000230256:p.Glu35Lys		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.E35K	ENST00000230256.3	37	c.103	CCDS5300.1	6	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350896	0.41599	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	D;D;D	0.81739	-1.53;-1.53;-1.53	4.7	2.83	0.33086	Major facilitator superfamily domain, general substrate transporter (1);	0.107976	0.64402	D	0.000007	T	0.54255	0.1847	L	0.46567	1.45	0.58432	D	0.999999	B;B	0.29115	0.233;0.233	B;B	0.23716	0.048;0.048	T	0.51764	-0.8664	10	0.18276	T	0.48	-20.981	8.9878	0.36005	0.0832:0.1483:0.7685:0.0	.	35;35	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	K	35	ENSP00000421484:E35K;ENSP00000230256:E35K;ENSP00000355794:E35K	ENSP00000230256:E35K	E	+	1	0	UNC93A	167628010	1.000000	0.71417	0.584000	0.28653	0.904000	0.53231	3.696000	0.54757	0.964000	0.38108	0.462000	0.41574	GAG	UNC93A	-	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt		0.627	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	G	NM_018974		167708020	+1	no_errors	ENST00000230256	ensembl	human	known	70_37	missense	SNP	0.992	A
WDR33	55339	genome.wustl.edu	37	2	128474785	128474785	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr2:128474785C>T	ENST00000322313.4	-	17	2971	c.2813G>A	c.(2812-2814)gGa>gAa	p.G938E		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	938					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACCTTGTGCTCCCTGCTGCCC	0.498																																																	0													38.0	37.0	37.0					2																	128474785		2203	4300	6503	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2813G>A	2.37:g.128474785C>T	ENSP00000325377:p.Gly938Glu		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G938E	ENST00000322313.4	37	c.2813	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668854	0.88348	.	.	ENSG00000136709	ENST00000322313	D	0.92699	-3.09	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	D	0.87696	0.6242	N	0.14661	0.345	0.80722	D	1	D	0.54047	0.964	P	0.44811	0.461	D	0.90234	0.4281	10	0.87932	D	0	-10.4083	18.8902	0.92397	0.0:1.0:0.0:0.0	.	938	Q9C0J8	WDR33_HUMAN	E	938	ENSP00000325377:G938E	ENSP00000325377:G938E	G	-	2	0	WDR33	128191255	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.359000	0.66074	2.473000	0.83533	0.563000	0.77884	GGA	WDR33	-	NULL		0.498	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	C	NM_018383		128474785	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF679	168417	genome.wustl.edu	37	7	63726618	63726618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:63726618C>T	ENST00000421025.1	+	5	876	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.Q203*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q203K(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACATCAACATCAGATAATTCA	0.338																																																	1	Substitution - Missense(1)	lung(1)											58.0	55.0	56.0					7																	63726618		692	1591	2283	SO:0001587	stop_gained	168417			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.607C>T	7.37:g.63726618C>T	ENSP00000416809:p.Gln203*			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.Q203*	ENST00000421025.1	37	c.607	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180914	0.21787	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	.	.	.	0.819	0.819	0.18785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6289	0.12491	0.0:0.5888:0.4112:0.0	.	.	.	.	X	203	.	ENSP00000255746:Q203X	Q	+	1	0	ZNF679	63364053	0.000000	0.05858	0.128000	0.21923	0.128000	0.20619	-0.820000	0.04457	0.191000	0.20236	0.194000	0.17425	CAG	ZNF679	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2	C	NM_153363		63726618	+1	no_errors	ENST00000255746	ensembl	human	known	70_37	nonsense	SNP	0.799	T
ZNF680	340252	genome.wustl.edu	37	7	63981581	63981581	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:63981581G>A	ENST00000309683.6	-	4	1702	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	517					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(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CAGGTTTGTAGAGTTTCTCAC	0.343																																																	0													62.0	69.0	67.0					7																	63981581		2201	4299	6500	SO:0001819	synonymous_variant	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1551C>T	7.37:g.63981581G>A			B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L517	ENST00000309683.6	37	c.1551	CCDS34644.1	7																																																																																			ZNF680	-	pfscan_Znf_C2H2		0.343	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	G	NM_178558		63981581	-1	no_errors	ENST00000309683	ensembl	human	known	70_37	silent	SNP	0.009	A
ZAN	7455	genome.wustl.edu	37	7	100372997	100372997	+	RNA	SNP	G	G	C			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr7:100372997G>C	ENST00000348028.3	+	0	5991				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGTGAGCTTTGATGGTAGTAA	0.582																																																	0													54.0	55.0	55.0					7																	100372997		1974	4155	6129			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100372997G>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.D1942H	ENST00000348028.3	37	c.5824		7	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917031	0.73098	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	4.21	4.21	0.49690	von Willebrand factor, type D domain (3);	0.000000	0.43747	D	0.000534	D	0.86932	0.6052	.	.	.	0.36099	D	0.84399	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90910	0.4775	9	0.87932	D	0	.	12.7709	0.57421	0.0:0.0:1.0:0.0	.	453;1942;1943	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	H	1942;1942;1942;453	ENSP00000445943:D1942H;ENSP00000445091:D1942H;ENSP00000444427:D1942H;ENSP00000441117:D453H	ENSP00000445091:D1942H	D	+	1	0	ZAN	100210933	1.000000	0.71417	0.827000	0.32855	0.056000	0.15407	7.465000	0.80898	2.278000	0.76064	0.462000	0.41574	GAT	ZAN	-	pfam_VWF_type-D,smart_VWF_type-D		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	G	NM_003386		100372997	+1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF93	81931	genome.wustl.edu	37	19	20026190	20026190	+	Silent	SNP	G	G	A			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:20026190G>A	ENST00000343769.5	+	2	133	c.105G>A	c.(103-105)gaG>gaA	p.E35E	AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Silent_p.E35E|ZNF93_ENST00000591366.1_Silent_p.E35E	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	35	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGATGTTAGAGAACTACAGTA	0.373																																																	0													130.0	133.0	132.0					19																	20026190		2203	4300	6503	SO:0001819	synonymous_variant	81931			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.105G>A	19.37:g.20026190G>A			A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E35	ENST00000343769.5	37	c.105	CCDS32973.1	19																																																																																			ZNF93	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.373	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	G	NM_031218		20026190	+1	no_errors	ENST00000343769	ensembl	human	known	70_37	silent	SNP	0.924	A
ZSCAN5B	342933	genome.wustl.edu	37	19	56702270	56702270	+	Silent	SNP	C	C	T			TCGA-EX-A1H6-01B-11D-A22X-09	TCGA-EX-A1H6-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08	0f91351d-4409-454f-b18b-b4cfc22ba161	g.chr19:56702270C>T	ENST00000586855.2	-	4	988	c.675G>A	c.(673-675)ctG>ctA	p.L225L	ZSCAN5B_ENST00000358992.3_Silent_p.L225L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	225					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTTTTCCTTCAGATCCTTCT	0.502																																																	0													189.0	171.0	177.0					19																	56702270		2203	4300	6503	SO:0001819	synonymous_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.675G>A	19.37:g.56702270C>T				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L225	ENST00000586855.2	37	c.675	CCDS46203.1	19																																																																																			ZSCAN5B	-	NULL		0.502	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	C	NM_001080456		56702270	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	silent	SNP	0.062	T
