#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AR	367	genome.wustl.edu	37	X	66943562	66943562	+	Missense_Mutation	SNP	T	T	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chrX:66943562T>A	ENST00000374690.3	+	8	3166	c.2642T>A	c.(2641-2643)cTg>cAg	p.L881Q	AR_ENST00000396043.2_Missense_Mutation_p.L349Q|AR_ENST00000396044.3_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	880	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.		L -> V (in AIS). {ECO:0000269|PubMed:7641413}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ACTTTTGACCTGCTAATCAAG	0.498									Androgen Insensitivity Syndrome																													dbGAP											0													198.0	168.0	178.0					X																	66943562		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2642T>A	X.37:g.66943562T>A	ENSP00000363822:p.Leu881Gln		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.L881Q	ENST00000374690.3	37	c.2642	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668803	0.67814	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	D;D	0.99814	-6.89;-6.89	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.99674	0.9878	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97543	1.0087	10	0.87932	D	0	.	11.8153	0.52207	0.0:0.0:0.0:1.0	.	349;880	F1D8N5;P10275	.;ANDR_HUMAN	Q	699;881;349	ENSP00000363822:L881Q;ENSP00000379358:L349Q	ENSP00000363822:L881Q	L	+	2	0	AR	66860287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.992000	0.63889	1.919000	0.55581	0.481000	0.45027	CTG	AR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000169083		0.498	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	39	0.00	0	T	NM_000044		66943562	66943562	+1	no_errors	ENST00000374690	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	A
ATP11C	286410	genome.wustl.edu	37	X	138897073	138897073	+	Silent	SNP	A	A	G			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chrX:138897073A>G	ENST00000327569.3	-	5	497	c.399T>C	c.(397-399)aaT>aaC	p.N133N	ATP11C_ENST00000359686.2_Silent_p.N133N|ATP11C_ENST00000370557.1_Silent_p.N130N|ATP11C_ENST00000361648.2_Silent_p.N133N|ATP11C_ENST00000370543.1_Silent_p.N133N	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	133					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N133K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTCGCTTTGCATTTTCAATAA	0.294																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											96.0	82.0	87.0					X																	138897073		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.399T>C	X.37:g.138897073A>G			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.N133	ENST00000327569.3	37	c.399	CCDS14668.1	X																																																																																			ATP11C	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000101974		0.294	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	94	0.00	0	A	NM_173694		138897073	138897073	-1	no_errors	ENST00000327569	ensembl	human	known	69_37n	silent	41	36.92	24	SNP	0.998	G
C17orf99	100141515	genome.wustl.edu	37	17	76157073	76157073	+	Silent	SNP	G	G	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr17:76157073G>A	ENST00000340363.5	+	3	163	c.108G>A	c.(106-108)ctG>ctA	p.L36L	C17orf99_ENST00000451352.3_3'UTR	NM_001163075.1	NP_001156547.1	Q6UX52	CQ099_HUMAN	chromosome 17 open reading frame 99	36						extracellular region (GO:0005576)											ACAAAGTCCTGGAAGTTTTCC	0.512																																						dbGAP											0													33.0	31.0	32.0					17																	76157073		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AY358510	CCDS54171.1	17q25.3	2012-10-23			ENSG00000187997	ENSG00000187997			34490	protein-coding gene	gene with protein product							Standard	NM_001163075		Approved	GLPG464, UNQ464	uc002jus.4	Q6UX52	OTTHUMG00000153871	ENST00000340363.5:c.108G>A	17.37:g.76157073G>A				Missense_Mutation	SNP	NULL	p.G99R	ENST00000340363.5	37	c.295	CCDS54171.1	17																																																																																			C17orf99	-	NULL	ENSG00000187997		0.512	C17orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf99	HGNC	protein_coding	OTTHUMT00000332775.1	46	0.00	0	G	NM_001163075		76157073	76157073	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000586999	ensembl	human	novel	69_37n	missense	34	46.03	29	SNP	0.293	A
CACNA1C	775	genome.wustl.edu	37	12	2797847	2797847	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr12:2797847G>A	ENST00000347598.4	+	48	6163	c.6163G>A	c.(6163-6165)Gcc>Acc	p.A2055T	CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2032T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2015T|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A2007T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2007T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2078T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2007T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2015T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2026T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2026T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2007T|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2007T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2042T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2027T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2024T|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2013T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2042T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2048T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2026T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2007T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2078T|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2035T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2090					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCAGCAGCGCCGCCCGGAG	0.697																																						dbGAP											0													20.0	24.0	23.0					12																	2797847		1903	4099	6002	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6163G>A	12.37:g.2797847G>A	ENSP00000266376:p.Ala2055Thr		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A2078T	ENST00000347598.4	37	c.6232	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	3.153	-0.173879	0.06421	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.46	-6.7	0.01766	.	1.448110	0.04099	N	0.312538	T	0.33585	0.0868	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.12013	0.0;0.005;0.0;0.002;0.005;0.001;0.0;0.001;0.0;0.002;0.001;0.0;0.001;0.001;0.0;0.0;0.001;0.001;0.001;0.0;0.0;0.001;0.001;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.08055	0.001;0.003;0.001;0.001;0.003;0.003;0.001;0.003;0.002;0.001;0.002;0.001;0.001;0.003;0.0;0.002;0.001;0.001;0.002;0.001;0.001;0.002;0.002;0.001;0.001	T	0.23940	-1.0174	10	0.31617	T	0.26	.	17.1456	0.86766	0.8068:0.0:0.1932:0.0	.	698;2048;2004;2090;2042;2026;2007;2024;2035;2007;2027;2007;2038;2055;2007;2042;2078;2015;2013;2015;1996;2026;2026;2007;2007	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	2032;2007;2007;2035;2007;2026;2026;2015;2007;2055;2027;2007;2048;2024;2042;2013;2026;2007;2078;2042;2078;2015;1908	ENSP00000336982:A2032T;ENSP00000382563:A2007T;ENSP00000382552:A2007T;ENSP00000382547:A2035T;ENSP00000382506:A2007T;ENSP00000382530:A2026T;ENSP00000382546:A2026T;ENSP00000382500:A2015T;ENSP00000382549:A2007T;ENSP00000266376:A2055T;ENSP00000382515:A2027T;ENSP00000382510:A2007T;ENSP00000341092:A2048T;ENSP00000382537:A2024T;ENSP00000329877:A2042T;ENSP00000382557:A2013T;ENSP00000385724:A2026T;ENSP00000382512:A2007T;ENSP00000382542:A2078T;ENSP00000382526:A2042T;ENSP00000385896:A2078T;ENSP00000382504:A2015T	ENSP00000323129:A1908T	A	+	1	0	CACNA1C	2668108	0.060000	0.20803	0.000000	0.03702	0.002000	0.02628	-0.096000	0.11059	-1.902000	0.01094	-1.598000	0.00824	GCC	CACNA1C	-	NULL	ENSG00000151067		0.697	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	64	0.00	0	G	NM_000719		2797847	2797847	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	46	26.56	17	SNP	0.193	A
CARD14	79092	genome.wustl.edu	37	17	78157880	78157880	+	Missense_Mutation	SNP	T	T	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr17:78157880T>A	ENST00000573882.1	+	6	1054	c.518T>A	c.(517-519)cTg>cAg	p.L173Q	CARD14_ENST00000570421.1_Missense_Mutation_p.L173Q|CARD14_ENST00000344227.2_Missense_Mutation_p.L173Q|CARD14_ENST00000392434.2_5'Flank			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	173					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCACCAGCTGGAGGCTGAC	0.642																																						dbGAP											0													24.0	20.0	21.0					17																	78157880		2192	4293	6485	-	-	-	SO:0001583	missense	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.518T>A	17.37:g.78157880T>A	ENSP00000458715:p.Leu173Gln		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.L173Q	ENST00000573882.1	37	c.518	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617699	0.66787	.	.	ENSG00000141527	ENST00000344227	T	0.34275	1.37	3.58	3.58	0.41010	.	0.259681	0.35262	N	0.003325	T	0.39937	0.1097	L	0.54323	1.7	0.80722	D	1	P	0.50943	0.94	P	0.49276	0.605	T	0.19647	-1.0299	10	0.36615	T	0.2	-12.2259	11.3937	0.49830	0.0:0.0:0.0:1.0	.	173	Q9BXL6	CAR14_HUMAN	Q	173	ENSP00000344549:L173Q	ENSP00000344549:L173Q	L	+	2	0	CARD14	75772475	0.675000	0.27558	0.983000	0.44433	0.726000	0.41606	2.533000	0.45667	1.394000	0.46624	0.402000	0.26972	CTG	CARD14	-	NULL	ENSG00000141527		0.642	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	37	0.00	0	T			78157880	78157880	+1	no_errors	ENST00000344227	ensembl	human	known	69_37n	missense	41	45.33	34	SNP	0.991	A
CCDC60	160777	genome.wustl.edu	37	12	119968836	119968836	+	Silent	SNP	C	C	T			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr12:119968836C>T	ENST00000327554.2	+	13	1984	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	507										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)		GATTTGGGAACTGTGCTCCCC	0.507																																						dbGAP											0													144.0	117.0	126.0					12																	119968836		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1519C>T	12.37:g.119968836C>T				Silent	SNP	NULL	p.L507	ENST00000327554.2	37	c.1519	CCDS9190.1	12																																																																																			CCDC60	-	NULL	ENSG00000183273		0.507	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	46	0.00	0	C	NM_178499		119968836	119968836	+1	no_errors	ENST00000327554	ensembl	human	known	69_37n	silent	47	21.67	13	SNP	0.972	T
CD93	22918	genome.wustl.edu	37	20	23066315	23066315	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr20:23066315C>T	ENST00000246006.4	-	1	662	c.515G>A	c.(514-516)gGa>gAa	p.G172E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	172	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AATGTTACTTCCGGGGGAGCC	0.652																																						dbGAP											0													34.0	40.0	38.0					20																	23066315		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.515G>A	20.37:g.23066315C>T	ENSP00000246006:p.Gly172Glu		O00274	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_EG-like_dom,pfscan_C-type_lectin	p.G172E	ENST00000246006.4	37	c.515	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	C	5.284	0.237863	0.10023	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.80824	-1.42	5.52	-0.719	0.11201	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.245759	0.28572	N	0.014875	T	0.79125	0.4393	L	0.36672	1.1	0.09310	N	1	D	0.63880	0.993	P	0.59643	0.861	T	0.71961	-0.4434	10	0.42905	T	0.14	-0.6596	10.2196	0.43190	0.5431:0.3393:0.1176:0.0	.	172	Q9NPY3	C1QR1_HUMAN	E	172	ENSP00000246006:G172E	ENSP00000246006:G172E	G	-	2	0	CD93	23014315	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.356000	0.07661	-0.291000	0.09012	0.655000	0.94253	GGA	CD93	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_CD93/CD141	ENSG00000125810		0.652	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	48	0.00	0	C	NM_012072		23066315	23066315	-1	no_errors	ENST00000246006	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	0.001	T
CDH1	999	genome.wustl.edu	37	16	68855914	68855915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr16:68855914_68855915insG	ENST00000261769.5	+	12	1913_1914	c.1722_1723insG	c.(1723-1725)gctfs	p.A575fs	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.A514fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	575	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GTTCTCCAGTTGCTACTGGAAC	0.46			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1723dupG	16.37:g.68855915_68855915dupG	ENSP00000261769:p.Ala575fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A574fs	ENST00000261769.5	37	c.1722_1723	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.460	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	53	0.00	0	-	NM_004360		68855914	68855915	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	23	43.90	18	INS	0.004:0.998	G
CHEK2	11200	genome.wustl.edu	37	22	29130481	29130481	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr22:29130481C>G	ENST00000405598.1	-	3	420	c.229G>C	c.(229-231)Gac>Cac	p.D77H	CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382566.1_Missense_Mutation_p.D77H|CHEK2_ENST00000403642.1_Missense_Mutation_p.D77H|CHEK2_ENST00000382580.2_Missense_Mutation_p.D77H|CHEK2_ENST00000382578.1_Missense_Mutation_p.D77H|CHEK2_ENST00000404276.1_Missense_Mutation_p.D77H|CHEK2_ENST00000328354.6_Missense_Mutation_p.D77H|CHEK2_ENST00000402731.1_Missense_Mutation_p.D77H|CHEK2_ENST00000382565.1_Missense_Mutation_p.D77H|CHEK2_ENST00000348295.3_Missense_Mutation_p.D77H			O96017	CHK2_HUMAN	checkpoint kinase 2	77					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGTTCTTGGTCCTCAGGAATA	0.547			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														dbGAP	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													79.0	82.0	81.0					22																	29130481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.229G>C	22.37:g.29130481C>G	ENSP00000386087:p.Asp77His		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom	p.D77H	ENST00000405598.1	37	c.229	CCDS13843.1	22	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141670	0.77775	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;T;D	0.94457	0.66;-0.29;-1.22;-3.43;-0.32;-0.32;-0.32;2.3;-0.29;0.66;-0.11;2.3;-2.58	5.41	5.41	0.78517	.	.	.	.	.	D	0.96312	0.8797	L	0.54323	1.7	0.80722	D	1	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	0.999;0.999;0.997;0.999;0.997;0.999	D	0.96137	0.9097	9	0.54805	T	0.06	-9.5151	16.719	0.85405	0.0:1.0:0.0:0.0	.	77;77;77;77;77;77	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	H	77;77;77;77;77;77;77;77;77;77;77;77;87	ENSP00000329012:D77H;ENSP00000372021:D77H;ENSP00000372006:D77H;ENSP00000372007:D77H;ENSP00000329178:D77H;ENSP00000385747:D77H;ENSP00000386087:D77H;ENSP00000372023:D77H;ENSP00000384919:D77H;ENSP00000384835:D77H;ENSP00000397478:D77H;ENSP00000408065:D77H;ENSP00000381099:D87H	ENSP00000329178:D77H	D	-	1	0	CHEK2	27460481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.049000	0.64244	2.700000	0.92200	0.650000	0.86243	GAC	CHEK2	-	superfamily_SMAD_FHA_domain	ENSG00000183765		0.547	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	40	0.00	0	C	NM_001005735		29130481	29130481	-1	no_errors	ENST00000382580	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	1.000	G
CYP4X1	260293	genome.wustl.edu	37	1	47497137	47497137	+	Missense_Mutation	SNP	T	T	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr1:47497137T>A	ENST00000371901.3	+	3	599	c.349T>A	c.(349-351)Tca>Aca	p.S117T	CYP4X1_ENST00000538609.1_Missense_Mutation_p.S116T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	117						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GCAGAAATTCTCACCTCCACT	0.428																																						dbGAP											0													228.0	229.0	229.0					1																	47497137		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.349T>A	1.37:g.47497137T>A	ENSP00000360968:p.Ser117Thr		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.S117T	ENST00000371901.3	37	c.349	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.772299	0.31411	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.68624	-0.34;-0.28	5.24	-3.41	0.04839	.	0.812487	0.11636	N	0.544296	T	0.39118	0.1066	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.25152	-1.0140	10	0.87932	D	0	.	5.5543	0.17107	0.4423:0.1694:0.0:0.3883	.	117;116	Q8N118;G3V1U1	CP4X1_HUMAN;.	T	116;117	ENSP00000445965:S116T;ENSP00000360968:S117T	ENSP00000360968:S117T	S	+	1	0	CYP4X1	47269724	0.012000	0.17670	0.003000	0.11579	0.003000	0.03518	-0.504000	0.06375	-0.328000	0.08539	-0.339000	0.08088	TCA	CYP4X1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186377		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	54	0.00	0	T	NM_178033		47497137	47497137	+1	no_errors	ENST00000371901	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	0.006	A
DBH	1621	genome.wustl.edu	37	9	136509403	136509403	+	Missense_Mutation	SNP	C	C	T	rs201128036	byFrequency	TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr9:136509403C>T	ENST00000393056.2	+	5	997	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	329					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CAGATATCTCCGCCTGGAAGT	0.587													C|||	3	0.000599042	0.0	0.0	5008	,	,		17877	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													100.0	91.0	94.0					9																	136509403		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.985C>T	9.37:g.136509403C>T	ENSP00000376776:p.Arg329Cys		Q5T381|Q96AG2	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.R329C	ENST00000393056.2	37	c.985	CCDS6977.2	9	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.5	3.997659	0.74818	.	.	ENSG00000123454	ENST00000393056	T	0.35048	1.33	5.13	5.13	0.70059	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.051257	0.85682	D	0.000000	T	0.66799	0.2826	M	0.89478	3.035	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.74191	-0.3745	10	0.66056	D	0.02	-33.81	17.5542	0.87886	0.0:1.0:0.0:0.0	.	329	P09172	DOPO_HUMAN	C	329	ENSP00000376776:R329C	ENSP00000376776:R329C	R	+	1	0	DBH	135499224	1.000000	0.71417	0.998000	0.56505	0.386000	0.30323	6.937000	0.75898	2.363000	0.80096	0.561000	0.74099	CGC	DBH	-	pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom	ENSG00000123454		0.587	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	40	0.00	0	C	NM_000787		136509403	136509403	+1	no_errors	ENST00000393056	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	T
DPYD	1806	genome.wustl.edu	37	1	98144721	98144721	+	Missense_Mutation	SNP	G	G	T			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr1:98144721G>T	ENST00000370192.3	-	8	880	c.780C>A	c.(778-780)agC>agA	p.S260R		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	260					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCACTGAAAGGCTTTTACCGC	0.259																																						dbGAP											0													24.0	24.0	24.0					1																	98144721		2191	4286	6477	-	-	-	SO:0001583	missense	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.780C>A	1.37:g.98144721G>T	ENSP00000359211:p.Ser260Arg		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.S260R	ENST00000370192.3	37	c.780	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296903	0.23650	.	.	ENSG00000188641	ENST00000370192	D	0.94417	-3.42	5.67	2.65	0.31530	.	0.108318	0.64402	D	0.000007	T	0.77711	0.4171	N	0.20685	0.6	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.70382	-0.4887	10	0.18710	T	0.47	-18.0033	5.8341	0.18597	0.1289:0.1099:0.648:0.1132	.	260	Q12882	DPYD_HUMAN	R	260	ENSP00000359211:S260R	ENSP00000359211:S260R	S	-	3	2	DPYD	97917309	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.027000	0.30115	0.880000	0.35969	0.591000	0.81541	AGC	DPYD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000188641		0.259	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	102	0.00	0	G	NM_000110		98144721	98144721	-1	no_errors	ENST00000370192	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56484354	56484354	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr6:56484354G>A	ENST00000370765.6	-	23	4585	c.4478C>T	c.(4477-4479)gCa>gTa	p.A1493V	DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6344					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACAGCATGTGCCCTTGTGAT	0.328																																						dbGAP											0													95.0	92.0	93.0					6																	56484354		2203	4299	6502	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4478C>T	6.37:g.56484354G>A	ENSP00000359801:p.Ala1493Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.A1493V	ENST00000370765.6	37	c.4478	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	G	3.253	-0.152759	0.06585	.	.	ENSG00000151914	ENST00000370765	T	0.23348	1.91	5.23	5.23	0.72850	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.09310	N	0.999999	B	0.17038	0.02	B	0.18561	0.022	T	0.10543	-1.0625	7	0.25106	T	0.35	.	14.4299	0.67243	0.0:0.1473:0.8527:0.0	.	1493	Q03001-3	.	V	1493	ENSP00000359801:A1493V	ENSP00000359801:A1493V	A	-	2	0	DST	56592313	0.997000	0.39634	0.555000	0.28281	0.054000	0.15201	5.346000	0.65992	2.445000	0.82738	0.650000	0.86243	GCA	DST	-	NULL	ENSG00000151914		0.328	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	99	0.00	0	G	NM_001723		56484354	56484354	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	missense	37	32.73	18	SNP	0.062	A
FLOT2	2319	genome.wustl.edu	37	17	27207860	27207860	+	Silent	SNP	G	G	C			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr17:27207860G>C	ENST00000394908.4	-	10	1223	c.1119C>G	c.(1117-1119)gcC>gcG	p.A373A	FLOT2_ENST00000394906.2_Silent_p.A428A|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.A373A	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	373					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTAAGTGGGGCAGCGATTT	0.572																																						dbGAP											0													126.0	129.0	128.0					17																	27207860		2183	4280	6463	-	-	-	SO:0001819	synonymous_variant	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1119C>G	17.37:g.27207860G>C				Silent	SNP	pfam_Band_7,smart_Band_7	p.A373	ENST00000394908.4	37	c.1119	CCDS11245.2	17																																																																																			FLOT2	-	NULL	ENSG00000132589		0.572	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	64	0.00	0	G	NM_004475		27207860	27207860	-1	no_errors	ENST00000394908	ensembl	human	known	69_37n	silent	70	44.00	55	SNP	0.153	C
FREM2	341640	genome.wustl.edu	37	13	39448667	39448667	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr13:39448667delC	ENST00000280481.7	+	18	8441	c.8225delC	c.(8224-8226)gccfs	p.A2742fs		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2742					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGCGCTTGGCCGTGCACTTC	0.488																																						dbGAP											0													202.0	174.0	184.0					13																	39448667		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8225delC	13.37:g.39448667delC	ENSP00000280481:p.Ala2742fs		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Frame_Shift_Del	DEL	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.V2743fs	ENST00000280481.7	37	c.8225	CCDS31960.1	13																																																																																			FREM2	-	NULL	ENSG00000150893		0.488	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	62	0.00	0	C	NM_207361		39448667	39448667	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.997	-
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000461472.1_Splice_Site|GATA3_ENST00000379328.3_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(7)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	SO:0001630	splice_region_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.922-1CA>-	10.37:g.8111433_8111434delCA			Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	64	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	59	14.49	10	DEL	1.000:1.000	-
GFM1	85476	genome.wustl.edu	37	3	158364565	158364565	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr3:158364565C>T	ENST00000486715.1	+	4	758	c.401C>T	c.(400-402)gCc>gTc	p.A134V	GFM1_ENST00000264263.5_Missense_Mutation_p.A134V|GFM1_ENST00000478576.1_Missense_Mutation_p.A134V	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTGGAAAGGGCCCTGAGAGTG	0.443																																						dbGAP											0													159.0	134.0	143.0					3																	158364565		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.401C>T	3.37:g.158364565C>T	ENSP00000419038:p.Ala134Val			Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.A134V	ENST00000486715.1	37	c.401	CCDS33885.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.010012	0.97200	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263;ENST00000464732	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.91	5.91	0.95273	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.174584	0.50627	D	0.000107	D	0.85327	0.5671	M	0.67953	2.075	0.80722	D	1	P;D;D	0.56287	0.923;0.975;0.975	P;D;D	0.64237	0.875;0.923;0.923	D	0.85565	0.1230	10	0.87932	D	0	-2.7094	20.2985	0.98592	0.0:1.0:0.0:0.0	.	134;134;134	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	V	134;134;134;59	ENSP00000419038:A134V;ENSP00000418755:A134V;ENSP00000264263:A134V;ENSP00000417532:A59V	ENSP00000264263:A134V	A	+	2	0	GFM1	159847259	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.793000	0.96121	0.655000	0.94253	GCC	GFM1	-	pfam_ProtSyn_GTP-bd,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	ENSG00000168827		0.443	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352271.1	71	0.00	0	C	NM_024996		158364565	158364565	+1	no_errors	ENST00000486715	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	1.000	T
GRIA4	2893	genome.wustl.edu	37	11	105769081	105769081	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr11:105769081G>A	ENST00000530497.1	+	6	813	c.813G>A	c.(811-813)atG>atA	p.M271I	GRIA4_ENST00000393127.2_Missense_Mutation_p.M271I|GRIA4_ENST00000428631.2_Missense_Mutation_p.M271I|GRIA4_ENST00000393125.2_Missense_Mutation_p.M271I|GRIA4_ENST00000282499.5_Missense_Mutation_p.M271I|GRIA4_ENST00000525187.1_Missense_Mutation_p.M271I			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	271					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATACACCTATGGTAATCAAAC	0.353																																						dbGAP											0													57.0	59.0	58.0					11																	105769081		2202	4299	6501	-	-	-	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.813G>A	11.37:g.105769081G>A	ENSP00000435775:p.Met271Ile		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.M271I	ENST00000530497.1	37	c.813	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	7.568	0.666050	0.14710	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.055835	0.64402	D	0.000001	T	0.64238	0.2580	N	0.04880	-0.145	0.53688	D	0.999978	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.61662	-0.7017	10	0.06099	T	0.92	.	14.6907	0.69083	0.0:0.0:0.855:0.145	.	271;271;271	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	I	271	ENSP00000376833:M271I;ENSP00000282499:M271I;ENSP00000376835:M271I;ENSP00000415551:M271I;ENSP00000435775:M271I;ENSP00000432180:M271I	ENSP00000282499:M271I	M	+	3	0	GRIA4	105274291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.326000	0.43849	2.704000	0.92352	0.655000	0.94253	ATG	GRIA4	-	pfam_ANF_lig-bd_rcpt	ENSG00000152578		0.353	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	130	0.00	0	G			105769081	105769081	+1	no_errors	ENST00000282499	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	A
HN1	51155	genome.wustl.edu	37	17	73132263	73132263	+	Silent	SNP	C	C	T			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr17:73132263C>T	ENST00000409753.3	-	5	684	c.399G>A	c.(397-399)gtG>gtA	p.V133V	HN1_ENST00000392566.2_Silent_p.V87V|HN1_ENST00000482348.1_Silent_p.V87V|HN1_ENST00000481647.1_Silent_p.V87V|HN1_ENST00000405458.3_Silent_p.V87V|HN1_ENST00000470924.1_Silent_p.V87V|HN1_ENST00000476258.1_Silent_p.V87V|RP11-649A18.5_ENST00000584339.1_RNA|HN1_ENST00000356033.4_Nonsense_Mutation_p.W127*	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	133					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					GGGCCGGGGCCACCGGGCTGG	0.597																																						dbGAP											0													48.0	53.0	51.0					17																	73132263		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"""androgen-regulated protein 2"""					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.399G>A	17.37:g.73132263C>T			B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Nonsense_Mutation	SNP	NULL	p.W127*	ENST00000409753.3	37	c.380	CCDS45771.1	17	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683365	0.88542	.	.	ENSG00000189159	ENST00000356033	.	.	.	5.6	-0.414	0.12359	.	0.499176	0.18485	N	0.139807	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-3.4252	3.2336	0.06757	0.1633:0.2396:0.4759:0.1212	.	.	.	.	X	127	.	ENSP00000348316:W127X	W	-	2	0	HN1	70643858	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	0.427000	0.21379	0.674000	0.31244	0.643000	0.83706	TGG	HN1	-	NULL	ENSG00000189159		0.597	HN1-001	KNOWN	basic|CCDS	protein_coding	HN1	HGNC	protein_coding	OTTHUMT00000335692.1	47	0.00	0	C	NM_001002032		73132263	73132263	-1	no_errors	ENST00000356033	ensembl	human	known	69_37n	nonsense	46	13.21	7	SNP	0.976	T
MLXIPL	51085	genome.wustl.edu	37	7	73021500	73021501	+	Intron	DEL	TG	TG	-			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr7:73021500_73021501delTG	ENST00000313375.3	-	5	621				MLXIPL_ENST00000354613.1_Intron|MLXIPL_ENST00000429400.2_Intron|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000414749.2_Intron|MLXIPL_ENST00000434326.1_Intron	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like						anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TAGGAGACGCTGTGGCCACACG	0.644											OREG0009804|OREG0018107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.574-152CA>-	7.37:g.73021502_73021503delTG		1142	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Frame_Shift_Del	DEL	NULL	p.Q142fs	ENST00000313375.3	37	c.425_424	CCDS5553.1	7																																																																																			MLXIPL	-	NULL	ENSG00000009950		0.644	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	22	0.00	0	TG	NM_032951		73021500	73021501	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456640	ensembl	human	putative	69_37n	frame_shift_del	28	17.14	6	DEL	0.001:0.040	-
NBPF1	55672	genome.wustl.edu	37	1	16889985	16889985	+	3'UTR	SNP	T	T	C	rs6603880	byFrequency	TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr1:16889985T>C	ENST00000430580.2	-	0	4760					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATCCCTCCTGTGTTAAAGATG	0.428																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.*453A>G	1.37:g.16889985T>C			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.428	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	18	0.00	0	T	NM_017940		16889985	16889985	-1	no_errors	ENST00000392963	ensembl	human	known	69_37n	rna	17	22.73	5	SNP	0.040	C
NEFM	4741	genome.wustl.edu	37	8	24771948	24771948	+	Silent	SNP	G	G	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr8:24771948G>A	ENST00000221166.5	+	1	1424	c.642G>A	c.(640-642)tcG>tcA	p.S214S	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Silent_p.S214S|NEFM_ENST00000437366.2_Silent_p.S214S|GS1-72M22.1_ENST00000607058.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000433454.2_5'Flank			P07197	NFM_HUMAN	neurofilament, medium polypeptide	214	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGAGGCGTCGCTGGTCAAGG	0.657																																						dbGAP											0													51.0	40.0	44.0					8																	24771948		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.642G>A	8.37:g.24771948G>A			B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.S214	ENST00000221166.5	37	c.642	CCDS6046.1	8																																																																																			NEFM	-	pfam_F,prints_Keratin_I	ENSG00000104722		0.657	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	20	0.00	0	G	NM_005382		24771948	24771948	+1	no_errors	ENST00000221166	ensembl	human	known	69_37n	silent	25	43.18	19	SNP	0.996	A
PAPLN	89932	genome.wustl.edu	37	14	73720553	73720553	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr14:73720553G>A	ENST00000554301.1	+	11	1349	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	PAPLN_ENST00000427855.1_Missense_Mutation_p.G396S|PAPLN_ENST00000381166.3_Missense_Mutation_p.G396S|PAPLN_ENST00000555445.1_Missense_Mutation_p.G396S|PAPLN_ENST00000340738.5_Missense_Mutation_p.G369S			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	396	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGACGGGGCCGGCATCCAGGA	0.687																																						dbGAP											0													41.0	43.0	42.0					14																	73720553		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1186G>A	14.37:g.73720553G>A	ENSP00000451803:p.Gly396Ser		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like	p.G396S	ENST00000554301.1	37	c.1186		14	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751757	0.31046	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.1	3.28	0.37604	.	.	.	.	.	T	0.36963	0.0986	L	0.37630	1.12	0.20307	N	0.999918	P;P;P	0.51240	0.883;0.904;0.943	B;B;B	0.41236	0.158;0.244;0.351	T	0.09596	-1.0667	9	0.45353	T	0.12	.	9.6312	0.39780	0.2462:0.0:0.7538:0.0	.	396;396;369	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	S	369;396;396;396;396	ENSP00000345395:G369S;ENSP00000403403:G396S;ENSP00000370558:G396S;ENSP00000451803:G396S;ENSP00000451729:G396S	ENSP00000216658:G396S	G	+	1	0	PAPLN	72790306	1.000000	0.71417	0.007000	0.13788	0.002000	0.02628	5.974000	0.70465	0.569000	0.29329	-0.379000	0.06801	GGC	PAPLN	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000100767		0.687	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	68	0.00	0	G	NM_173462		73720553	73720553	+1	no_errors	ENST00000427855	ensembl	human	known	69_37n	missense	46	17.86	10	SNP	0.188	A
PKD2L2	27039	genome.wustl.edu	37	5	137230184	137230184	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr5:137230184G>A	ENST00000508883.1	+	4	436	c.410G>A	c.(409-411)cGc>cAc	p.R137H	PKD2L2_ENST00000508638.1_Missense_Mutation_p.R137H|PKD2L2_ENST00000502810.1_Missense_Mutation_p.R137H|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R137H|PKD2L2_ENST00000350250.4_Missense_Mutation_p.R103H			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	137					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTAAAAGTCCGCAACAACACA	0.368																																						dbGAP											0													116.0	113.0	114.0					5																	137230184		1859	4092	5951	-	-	-	SO:0001583	missense	0			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.410G>A	5.37:g.137230184G>A	ENSP00000424725:p.Arg137His		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.R137H	ENST00000508883.1	37	c.410		5	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051913	0.75960	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431;ENST00000511176	T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.47	4.61	0.57282	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.64402	D	0.000006	T	0.80325	0.4602	M	0.64676	1.99	0.32285	N	0.567071	P;D;D	0.89917	0.945;1.0;1.0	P;D;D	0.91635	0.534;0.999;0.999	D	0.83633	0.0146	10	0.62326	D	0.03	-3.0818	10.4262	0.44380	0.1493:0.0:0.8507:0.0	.	137;137;137	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	H	47;103;137;137;137;137;47	ENSP00000424885:R47H;ENSP00000344177:R103H;ENSP00000423382:R137H;ENSP00000425513:R137H;ENSP00000424725:R137H;ENSP00000290431:R137H;ENSP00000423926:R47H	ENSP00000290431:R137H	R	+	2	0	PKD2L2	137258083	0.008000	0.16893	1.000000	0.80357	0.997000	0.91878	1.292000	0.33342	1.300000	0.44818	0.591000	0.81541	CGC	PKD2L2	-	pfam_PKD1_2_channel,prints_PKD_2	ENSG00000078795		0.368	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	PKD2L2	HGNC	protein_coding	OTTHUMT00000372521.1	69	0.00	0	G	NM_014386		137230184	137230184	+1	no_errors	ENST00000508883	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	0.986	A
PLCXD2	257068	genome.wustl.edu	37	3	111432830	111432830	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr3:111432830C>T	ENST00000477665.1	+	3	1045	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	PLCXD2_ENST00000393934.3_Missense_Mutation_p.R241C|PLCXD2_ENST00000472215.1_3'UTR	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	241					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CACAAGTGTGCGCAAACTAAT	0.542																																						dbGAP											0													78.0	79.0	79.0					3																	111432830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.721C>T	3.37:g.111432830C>T	ENSP00000420686:p.Arg241Cys		Q96N12	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.R241C	ENST00000477665.1	37	c.721	CCDS54619.1	3	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625216	0.28889	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.39	1.01	0.19927	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	T	0.24624	0.0597	L	0.29908	0.895	0.20926	N	0.999822	B;P	0.39831	0.0;0.69	B;B	0.36186	0.0;0.219	T	0.09952	-1.0651	8	0.62326	D	0.03	-2.4399	9.0543	0.36397	0.3757:0.5488:0.0:0.0755	.	241;241	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	C	241	.	ENSP00000377511:R241C	R	+	1	0	PLCXD2	112915520	0.004000	0.15560	0.374000	0.26016	0.749000	0.42624	-0.254000	0.08781	0.246000	0.21394	-0.214000	0.12660	CGC	PLCXD2	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000240891		0.542	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCXD2	HGNC	protein_coding	OTTHUMT00000354322.1	42	0.00	0	C	NM_153268		111432830	111432830	+1	no_errors	ENST00000477665	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.150	T
RIN3	79890	genome.wustl.edu	37	14	93118714	93118714	+	Silent	SNP	C	C	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr14:93118714C>A	ENST00000216487.7	+	6	1479	c.1320C>A	c.(1318-1320)gcC>gcA	p.A440A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	440	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGTGAAAGCCAGCGATCCTC	0.652																																						dbGAP											0													94.0	108.0	103.0					14																	93118714		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1320C>A	14.37:g.93118714C>A			Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.A440	ENST00000216487.7	37	c.1320	CCDS32144.1	14																																																																																			RIN3	-	NULL	ENSG00000100599		0.652	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	HGNC	protein_coding	OTTHUMT00000412269.1	37	0.00	0	C			93118714	93118714	+1	no_errors	ENST00000216487	ensembl	human	known	69_37n	silent	19	17.39	4	SNP	0.000	A
ROR2	4920	genome.wustl.edu	37	9	94495597	94495597	+	Silent	SNP	C	C	T			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr9:94495597C>T	ENST00000375708.3	-	6	942	c.744G>A	c.(742-744)ccG>ccA	p.P248P	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.P108P	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	248	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACAGCTCACGCGGCTTGGGTG	0.652																																						dbGAP											0													43.0	40.0	41.0					9																	94495597		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.744G>A	9.37:g.94495597C>T			Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P248	ENST00000375708.3	37	c.744	CCDS6691.1	9																																																																																			ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000169071		0.652	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	59	0.00	0	C			94495597	94495597	-1	no_errors	ENST00000375708	ensembl	human	known	69_37n	silent	57	38.04	35	SNP	0.668	T
SCAF8	22828	genome.wustl.edu	37	6	155153526	155153526	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr6:155153526G>A	ENST00000367178.3	+	20	3389	c.2813G>A	c.(2812-2814)aGa>aAa	p.R938K	SCAF8_ENST00000367186.4_Missense_Mutation_p.R1004K|SCAF8_ENST00000417268.1_Missense_Mutation_p.R938K|TIAM2_ENST00000461783.3_5'Flank	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	938	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCTGGGCCAAGATTCCCTTTA	0.507																																						dbGAP											0													154.0	165.0	162.0					6																	155153526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2813G>A	6.37:g.155153526G>A	ENSP00000356146:p.Arg938Lys		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.R1004K	ENST00000367178.3	37	c.3011	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152736	0.38021	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.74209	-0.71;-0.71;-0.82	5.58	4.71	0.59529	.	0.000000	0.64402	U	0.000001	T	0.78904	0.4357	L	0.60455	1.87	0.34939	D	0.750166	P;P;D	0.58268	0.745;0.745;0.982	B;B;D	0.67548	0.251;0.251;0.952	T	0.82476	-0.0438	10	0.59425	D	0.04	.	16.4474	0.83942	0.0:0.1315:0.8685:0.0	.	983;1004;938	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	K	938;938;1004	ENSP00000356146:R938K;ENSP00000413098:R938K;ENSP00000356154:R1004K	ENSP00000356146:R938K	R	+	2	0	SCAF8	155195218	1.000000	0.71417	0.874000	0.34290	0.225000	0.24961	8.677000	0.91203	1.345000	0.45676	-0.175000	0.13238	AGA	SCAF8	-	NULL	ENSG00000213079		0.507	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	24	0.00	0	G	NM_014892		155153526	155153526	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	missense	17	35.71	10	SNP	1.000	A
LINC00969	440993	genome.wustl.edu	37	3	195393030	195393030	+	lincRNA	SNP	A	A	G	rs202038141		TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr3:195393030A>G	ENST00000445430.1	+	0	741									long intergenic non-protein coding RNA 969																		CGCACTGTGCATACAGGACGG	0.423																																						dbGAP											0																																										-	-	-			0			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195393030A>G				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			SDHAP2	-	-	ENSG00000215837		0.423	LINC00969-038	KNOWN	basic	lincRNA	SDHAP2	HGNC	lincRNA	OTTHUMT00000341951.1	61	0.00	0	A			195393030	195393030	+1	no_errors	ENST00000429897	ensembl	human	known	69_37n	rna	39	13.33	6	SNP	1.000	G
SMG1P3	100271836	genome.wustl.edu	37	16	21458336	21458337	+	RNA	INS	-	-	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr16:21458336_21458337insA	ENST00000520823.2	-	0	2860_2861																											aaagcaaaatttaaaaaaAAAA	0.292																																						dbGAP											0																																										-	-	-			0																															16.37:g.21458336_21458337insA				RNA	INS	-	NULL	ENST00000520823.2	37	NULL		16																																																																																			SLC7A5P1	-	-	ENSG00000180747		0.292	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	SLC7A5P1	HGNC	pseudogene	OTTHUMT00000378302.2	42	0.00	0	-			21458336	21458337	-1	no_errors	ENST00000520823	ensembl	human	known	69_37n	rna	7	30.00	3	INS	0.847:0.918	A
STRBP	55342	genome.wustl.edu	37	9	125909224	125909224	+	Silent	SNP	T	T	A			TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr9:125909224T>A	ENST00000348403.5	-	13	1677	c.1248A>T	c.(1246-1248)ccA>ccT	p.P416P	STRBP_ENST00000360998.3_Silent_p.P402P|STRBP_ENST00000447404.2_Silent_p.P416P	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	416	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TTGTGAAGACTGGGGCATGAA	0.458																																						dbGAP											0													173.0	161.0	165.0					9																	125909224		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1248A>T	9.37:g.125909224T>A			Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.P416	ENST00000348403.5	37	c.1248	CCDS6851.1	9																																																																																			STRBP	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000165209		0.458	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRBP	HGNC	protein_coding	OTTHUMT00000053982.1	110	0.00	0	T			125909224	125909224	-1	no_errors	ENST00000348403	ensembl	human	known	69_37n	silent	76	10.59	9	SNP	0.996	A
USP8	9101	genome.wustl.edu	37	15	50784950	50784950	+	Missense_Mutation	SNP	C	C	T	rs78143971	byFrequency	TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr15:50784950C>T	ENST00000396444.3	+	15	2625	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.R657W|USP8_ENST00000433963.1_Missense_Mutation_p.R763W|USP8_ENST00000307179.4_Missense_Mutation_p.R763W	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	763					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTCAGATTCGGAACCTCAA	0.403																																						dbGAP											0													133.0	120.0	125.0					15																	50784950		2196	4294	6490	-	-	-	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2287C>T	15.37:g.50784950C>T	ENSP00000379721:p.Arg763Trp		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.R763W	ENST00000396444.3	37	c.2287	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628030	0.87560	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.21031	2.03;2.03;2.03;2.07	5.22	5.22	0.72569	.	0.556073	0.19308	N	0.117479	T	0.32255	0.0823	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.61477	0.889;0.889	T	0.02320	-1.1177	10	0.56958	D	0.05	-12.0933	15.5388	0.76024	0.1385:0.8615:0.0:0.0	.	657;763	B4DKA8;P40818	.;UBP8_HUMAN	W	763;763;763;657	ENSP00000379721:R763W;ENSP00000405537:R763W;ENSP00000302239:R763W;ENSP00000412682:R657W	ENSP00000302239:R763W	R	+	1	2	USP8	48572242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.593000	0.87608	0.650000	0.86243	CGG	USP8	-	NULL	ENSG00000138592		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	27	0.00	0	C	NM_005154		50784950	50784950	+1	no_errors	ENST00000307179	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	1.000	T
USP8	9101	genome.wustl.edu	37	15	50784955	50784955	+	Missense_Mutation	SNP	C	C	A	rs74840283		TCGA-OL-A66K-01A-11D-A29N-09	TCGA-OL-A66K-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fc9000d-e958-4d57-aeef-fe948dfbd927	fa188ef9-cd0b-4db0-bd54-6a544ecef685	g.chr15:50784955C>A	ENST00000396444.3	+	15	2630	c.2292C>A	c.(2290-2292)aaC>aaA	p.N764K	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.N658K|USP8_ENST00000433963.1_Missense_Mutation_p.N764K|USP8_ENST00000307179.4_Missense_Mutation_p.N764K	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	764					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGATTCGGAACCTCAATCCTG	0.408																																						dbGAP											0													135.0	121.0	126.0					15																	50784955		2196	4294	6490	-	-	-	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2292C>A	15.37:g.50784955C>A	ENSP00000379721:p.Asn764Lys		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.N764K	ENST00000396444.3	37	c.2292	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650128	0.67472	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.18174	2.23;2.23;2.23;2.27	5.22	2.26	0.28386	.	0.395808	0.31859	N	0.006953	T	0.09069	0.0224	N	0.24115	0.695	0.48696	D	0.999694	B;B	0.26672	0.083;0.156	B;B	0.21546	0.035;0.03	T	0.19224	-1.0312	10	0.10902	T	0.67	-18.6446	9.071	0.36493	0.0:0.5813:0.0:0.4187	.	658;764	B4DKA8;P40818	.;UBP8_HUMAN	K	764;764;764;658	ENSP00000379721:N764K;ENSP00000405537:N764K;ENSP00000302239:N764K;ENSP00000412682:N658K	ENSP00000302239:N764K	N	+	3	2	USP8	48572247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.755000	0.26405	0.695000	0.31675	0.650000	0.86243	AAC	USP8	-	NULL	ENSG00000138592		0.408	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	26	0.00	0	C	NM_005154		50784955	50784955	+1	no_errors	ENST00000307179	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	1.000	A
