#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA13	154664	genome.wustl.edu	37	7	48312196	48312196	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:48312196T>C	ENST00000435803.1	+	17	2957	c.2933T>C	c.(2932-2934)aTt>aCt	p.I978T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	978					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTGAATATTCAGAGTAGA	0.303																																																	0													43.0	41.0	42.0					7																	48312196		1798	4063	5861	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2933T>C	7.37:g.48312196T>C	ENSP00000411096:p.Ile978Thr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I978T	ENST00000435803.1	37	c.2933	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	2.228	-0.376796	0.05000	.	.	ENSG00000179869	ENST00000435803	D	0.86497	-2.13	5.67	-1.82	0.07857	.	0.821216	0.10424	N	0.676282	T	0.80534	0.4641	M	0.62723	1.935	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.69587	-0.5105	10	0.87932	D	0	.	0.6867	0.00884	0.2301:0.1409:0.2147:0.4143	.	978	Q86UQ4	ABCAD_HUMAN	T	978	ENSP00000411096:I978T	ENSP00000411096:I978T	I	+	2	0	ABCA13	48282742	0.000000	0.05858	0.011000	0.14972	0.010000	0.07245	-0.057000	0.11768	0.080000	0.16959	0.533000	0.62120	ATT	ABCA13	-	NULL	ENSG00000179869		0.303	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2		0.00	33	0	T	NM_152701		48312196	+1			no_errors	ENST00000435803	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.000	C
ABCC12	94160	genome.wustl.edu	37	16	48125058	48125058	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:48125058G>A	ENST00000311303.3	-	23	3603	c.3258C>T	c.(3256-3258)tcC>tcT	p.S1086S	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1086						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCAGCTCCACGGAGGTGAATT	0.502																																																	0													165.0	158.0	160.0					16																	48125058		2201	4300	6501	SO:0001819	synonymous_variant	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3258C>T	16.37:g.48125058G>A			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S1086	ENST00000311303.3	37	c.3258	CCDS10730.1	16																																																																																			ABCC12	-	superfamily_ABC1_TM_dom	ENSG00000140798		0.502	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1		0.00	24	0	G	NM_033226		48125058	-1			no_errors	ENST00000311303	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.008	A
ADAM29	11086	genome.wustl.edu	37	4	175898847	175898847	+	Missense_Mutation	SNP	G	G	T	rs150256322		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:175898847G>T	ENST00000359240.3	+	5	2841	c.2171G>T	c.(2170-2172)cGa>cTa	p.R724L	ADAM29_ENST00000514159.1_Missense_Mutation_p.R724L|ADAM29_ENST00000404450.4_Missense_Mutation_p.R724L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.R724L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	724					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATTCAGCGTCGACCTCATGAG	0.443																																					Ovarian(140;1727 1835 21805 25838 41440)												0													93.0	89.0	90.0					4																	175898847		2203	4300	6503	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2171G>T	4.37:g.175898847G>T	ENSP00000352177:p.Arg724Leu		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R724L	ENST00000359240.3	37	c.2171	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	G	0.923	-0.715132	0.03206	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01963	4.53;4.53;4.53;4.53	1.24	-2.48	0.06423	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45920	-0.9228	8	.	.	.	.	0.015	0.00002	0.2713:0.2051:0.2017:0.3218	.	724	Q9UKF5	ADA29_HUMAN	L	724	ENSP00000352177:R724L;ENSP00000414544:R724L;ENSP00000384229:R724L;ENSP00000423517:R724L	.	R	+	2	0	ADAM29	176135422	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.832000	0.00743	-2.502000	0.00509	-1.322000	0.01289	CGA	ADAM29	-	NULL	ENSG00000168594		0.443	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding			0.00	52	0	G			175898847	+1			no_errors	ENST00000359240	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.000	T
ADCY9	115	genome.wustl.edu	37	16	4164627	4164627	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:4164627C>T	ENST00000294016.3	-	2	1355	c.817G>A	c.(817-819)Gga>Aga	p.G273R		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	273					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCCCCGGCTCCGGGCGAGGGG	0.622																																																	0													29.0	29.0	29.0					16																	4164627		2197	4299	6496	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.817G>A	16.37:g.4164627C>T	ENSP00000294016:p.Gly273Arg		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G273R	ENST00000294016.3	37	c.817	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.118057	0.01785	.	.	ENSG00000162104	ENST00000294016	D	0.83075	-1.68	5.57	3.57	0.40892	.	0.648432	0.16226	N	0.223804	T	0.73853	0.3640	L	0.38531	1.155	0.09310	N	1	B	0.32604	0.377	B	0.27170	0.077	T	0.59397	-0.7462	10	0.32370	T	0.25	.	12.8745	0.57982	0.1293:0.7465:0.1242:0.0	.	273	O60503	ADCY9_HUMAN	R	273	ENSP00000294016:G273R	ENSP00000294016:G273R	G	-	1	0	ADCY9	4104628	0.049000	0.20398	0.000000	0.03702	0.039000	0.13416	3.363000	0.52321	0.693000	0.31634	0.555000	0.69702	GGA	ADCY9	-	NULL	ENSG00000162104		0.622	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1		0.00	25	0	C			4164627	-1			no_errors	ENST00000294016	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.003	T
AGO3	192669	genome.wustl.edu	37	1	36437667	36437667	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:36437667C>G	ENST00000373191.4	+	4	704	c.355C>G	c.(355-357)Cga>Gga	p.R119G	AGO3_ENST00000397828.2_Missense_Mutation_p.R119G|AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000324350.5_Missense_Mutation_p.R119G	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	119					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TGGAAAAGATCGACCTTTCAA	0.413																																																	0													121.0	108.0	112.0					1																	36437667		2203	4300	6503	SO:0001583	missense	0			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.355C>G	1.37:g.36437667C>G	ENSP00000362287:p.Arg119Gly		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.R119G	ENST00000373191.4	37	c.355	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430754	0.83776	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T	0.11712	2.75	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	M	0.89601	3.045	0.80722	D	1	B;B	0.33857	0.008;0.429	B;B	0.35899	0.024;0.213	T	0.13899	-1.0492	10	0.72032	D	0.01	-43.2134	15.615	0.76760	0.1387:0.8613:0.0:0.0	.	119;119	Q9H9G7;Q5TA56	AGO3_HUMAN;.	G	119	ENSP00000362287:R119G	ENSP00000317425:R119G	R	+	1	2	EIF2C3	36210254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.991000	0.70602	1.350000	0.45770	0.563000	0.77884	CGA	AGO3	-	NULL	ENSG00000126070		0.413	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO3	HGNC	protein_coding	OTTHUMT00000019831.4		0.00	30	0	C	NM_024852		36437667	+1			no_errors	ENST00000373191	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	G
AMER1	139285	genome.wustl.edu	37	X	63412561	63412561	+	Silent	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:63412561G>T	ENST00000330258.3	-	2	878	c.606C>A	c.(604-606)gcC>gcA	p.A202A	AMER1_ENST00000374869.3_Silent_p.A202A|AMER1_ENST00000403336.1_Silent_p.A202A	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	202					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CATGAGGCCTGGCTCTGACCC	0.582																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											49.0	44.0	46.0					X																	63412561		2202	4298	6500	SO:0001819	synonymous_variant	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.606C>A	X.37:g.63412561G>T			A2IB86|Q8N885	Silent	SNP	pfam_Uncharacterised_FAM123	p.A202	ENST00000330258.3	37	c.606	CCDS14377.2	X																																																																																			AMER1	-	pfam_Uncharacterised_FAM123	ENSG00000184675		0.582	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	HGNC	protein_coding	OTTHUMT00000316584.1		0.00	66	0	G	NM_152424		63412561	-1			no_errors	ENST00000330258	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.000	T
AMOTL2	51421	genome.wustl.edu	37	3	134089587	134089587	+	Missense_Mutation	SNP	C	C	A	rs569311001	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr3:134089587C>A	ENST00000422605.2	-	2	855	c.689G>T	c.(688-690)cGg>cTg	p.R230L	AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R230L|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R288L|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R230L			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	230					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCACGGTACCGTGGGTCAGT	0.617																																																	0													51.0	49.0	50.0					3																	134089587		2201	4299	6500	SO:0001583	missense	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.689G>T	3.37:g.134089587C>A	ENSP00000409999:p.Arg230Leu		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R230L	ENST00000422605.2	37	c.689		3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121694	0.77436	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	4.69	4.69	0.59074	.	0.327565	0.31051	N	0.008351	T	0.36580	0.0972	L	0.53249	1.67	0.39339	D	0.965547	D;D;D	0.63046	0.992;0.992;0.987	D;D;D	0.72982	0.979;0.979;0.953	T	0.07578	-1.0765	10	0.25106	T	0.35	-34.9716	17.9901	0.89166	0.0:1.0:0.0:0.0	.	230;230;288	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	L	230;230;288;230	ENSP00000249883:R230L;ENSP00000409999:R230L;ENSP00000424765:R288L;ENSP00000425475:R230L	ENSP00000249883:R230L	R	-	2	0	AMOTL2	135572277	0.227000	0.23707	0.086000	0.20670	0.216000	0.24613	3.538000	0.53597	2.292000	0.77174	0.455000	0.32223	CGG	AMOTL2	-	NULL	ENSG00000114019		0.617	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1		0.00	33	0	C	NM_016201		134089587	-1			no_errors	ENST00000249883	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.518	A
ANK1	286	genome.wustl.edu	37	8	41557028	41557028	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:41557028A>T	ENST00000347528.4	-	23	2583	c.2500T>A	c.(2500-2502)Tcc>Acc	p.S834T	ANK1_ENST00000379758.2_Missense_Mutation_p.S834T|ANK1_ENST00000396942.1_Missense_Mutation_p.S834T|ANK1_ENST00000289734.7_Missense_Mutation_p.S834T|ANK1_ENST00000352337.4_Missense_Mutation_p.S834T|ANK1_ENST00000396945.1_Missense_Mutation_p.S834T|ANK1_ENST00000265709.8_Missense_Mutation_p.S875T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	834					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACATCCCTGGAATCCCGCCTC	0.547																																																	0													113.0	108.0	110.0					8																	41557028		2203	4300	6503	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2500T>A	8.37:g.41557028A>T	ENSP00000339620:p.Ser834Thr		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S834T	ENST00000347528.4	37	c.2500	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.318|6.318	0.426777|0.426777	0.11987|0.11987	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.64618	.|-0.09;-0.09;-0.07;-0.05;-0.07;-0.06;-0.11	5.49|5.49	-2.0|-2.0	0.07433|0.07433	.|.	.|0.590539	.|0.18723	.|N	.|0.132959	T|T	0.39517|0.39517	0.1081|0.1081	N|N	0.22421|0.22421	0.69|0.69	0.27376|0.27376	N|N	0.95556|0.95556	.|B;P;B;B;B;B	.|0.34800	.|0.132;0.469;0.004;0.141;0.057;0.389	.|B;B;B;B;B;B	.|0.35114	.|0.062;0.117;0.007;0.098;0.138;0.196	T|T	0.25676|0.25676	-1.0125|-1.0125	5|10	.|0.36615	.|T	.|0.2	.|.	5.3956|5.3956	0.16266|0.16266	0.2782:0.53:0.0744:0.1174|0.2782:0.53:0.0744:0.1174	.|.	.|875;834;834;834;834;150	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	Y|T	155|834;834;834;834;834;834;875;834	.|ENSP00000339620:S834T;ENSP00000289734:S834T;ENSP00000369082:S834T;ENSP00000380149:S834T;ENSP00000380147:S834T;ENSP00000309131:S834T;ENSP00000265709:S875T	.|ENSP00000265709:S875T	F|S	-|-	2|1	0|0	ANK1|ANK1	41676185|41676185	0.762000|0.762000	0.28451|0.28451	0.253000|0.253000	0.24343|0.24343	0.023000|0.023000	0.10783|0.10783	0.275000|0.275000	0.18698|0.18698	-0.201000|-0.201000	0.10284|0.10284	0.533000|0.533000	0.62120|0.62120	TTC|TCC	ANK1	-	NULL	ENSG00000029534		0.547	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1		0.00	19	0	A	NM_020475		41557028	-1			no_errors	ENST00000396942	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.414	T
ANKRD30A	91074	genome.wustl.edu	37	10	37442563	37442563	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:37442563A>G	ENST00000602533.1	+	13	1702	c.1603A>G	c.(1603-1605)Ata>Gta	p.I535V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I535V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I535V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	591					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCAAAAAGAAATAGATAAAAT	0.313																																																	0													129.0	130.0	130.0					10																	37442563		1794	4055	5849	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1603A>G	10.37:g.37442563A>G	ENSP00000473551:p.Ile535Val		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I535V	ENST00000602533.1	37	c.1603		10	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.815191	0.00004	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05319	3.46;3.46	1.29	-2.58	0.06228	.	.	.	.	.	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.39143	-0.9628	9	0.25106	T	0.35	.	0.4732	0.00535	0.3381:0.1868:0.2893:0.1858	.	591	Q9BXX3	AN30A_HUMAN	V	535	ENSP00000354432:I535V;ENSP00000363792:I535V	ENSP00000354432:I535V	I	+	1	0	ANKRD30A	37482569	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.645000	0.05409	-3.018000	0.00270	-2.526000	0.00183	ATA	ANKRD30A	-	NULL	ENSG00000148513		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2		0.00	148	0	A	NM_052997		37442563	+1			no_errors	ENST00000361713	ensembl	human	known	74_37	missense	26.97	111	41	SNP	0.000	G
ANKS1B	56899	genome.wustl.edu	37	12	99640199	99640199	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:99640199T>C	ENST00000547776.2	-	13	2199	c.2200A>G	c.(2200-2202)Agt>Ggt	p.S734G	ANKS1B_ENST00000550833.1_5'Flank|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S734G|ANKS1B_ENST00000547010.1_Missense_Mutation_p.S314G	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	734						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTAGAGACACTTTTTGACAAA	0.433																																																	0													127.0	120.0	122.0					12																	99640199		1912	4101	6013	SO:0001583	missense	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2200A>G	12.37:g.99640199T>C	ENSP00000449629:p.Ser734Gly		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S734G	ENST00000547776.2	37	c.2200	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	T	11.30	1.599090	0.28534	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.69040	0.46;-0.37;0.46	5.21	5.21	0.72293	.	0.443887	0.24585	N	0.037270	T	0.56046	0.1959	L	0.32530	0.975	0.80722	D	1	B;B	0.16603	0.018;0.002	B;B	0.31337	0.128;0.01	T	0.51012	-0.8759	9	.	.	.	-0.4339	9.9422	0.41587	0.1512:0.0:0.0:0.8488	.	314;734	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	G	734;314;734;313	ENSP00000449629:S734G;ENSP00000448512:S314G;ENSP00000331381:S734G	.	S	-	1	0	ANKS1B	98164330	1.000000	0.71417	0.910000	0.35882	0.564000	0.35744	4.201000	0.58439	2.090000	0.63153	0.379000	0.24179	AGT	ANKS1B	-	NULL	ENSG00000185046		0.433	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3		0.00	37	0	T	NM_020140		99640199	-1			no_errors	ENST00000329257	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.952	C
ARID1A	8289	genome.wustl.edu	37	1	27057668	27057668	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:27057668C>T	ENST00000324856.7	+	3	1747	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	ARID1A_ENST00000457599.2_Missense_Mutation_p.P459L|ARID1A_ENST00000374152.2_Missense_Mutation_p.P76L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	459					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAACAAGGCCCCAGCGGGTAT	0.502			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													192.0	197.0	195.0					1																	27057668		2203	4300	6503	SO:0001583	missense	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1376C>T	1.37:g.27057668C>T	ENSP00000320485:p.Pro459Leu		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P459L	ENST00000324856.7	37	c.1376	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706880	0.48412	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	T;T;T;T	0.44083	4.46;4.22;0.93;4.26	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.27123	-1.0083	10	0.07644	T	0.81	-8.6654	18.5443	0.91040	0.0:1.0:0.0:0.0	.	459;459;113	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	L	459;459;76;76	ENSP00000320485:P459L;ENSP00000387636:P459L;ENSP00000432473:P76L;ENSP00000363267:P76L	ENSP00000320485:P459L	P	+	2	0	ARID1A	26930255	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.799000	0.75160	2.615000	0.88500	0.561000	0.74099	CCC	ARID1A	-	NULL	ENSG00000117713		0.502	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0.00	51	0	C	NM_139135		27057668	+1			no_errors	ENST00000324856	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	T
ATP2B4	493	genome.wustl.edu	37	1	203668687	203668687	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:203668687T>C	ENST00000357681.5	+	4	1614	c.491T>C	c.(490-492)tTa>tCa	p.L164S	ATP2B4_ENST00000367218.3_Missense_Mutation_p.L164S|ATP2B4_ENST00000367219.3_Missense_Mutation_p.L164S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L164S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L164S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	164					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCGTGGTGTTAGTGACTGCC	0.502																																																	0													169.0	164.0	166.0					1																	203668687		2203	4300	6503	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.491T>C	1.37:g.203668687T>C	ENSP00000350310:p.Leu164Ser		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.L164S	ENST00000357681.5	37	c.491	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429087	0.62844	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	5.19	5.19	0.71726	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.346678	0.19938	N	0.102715	D	0.93409	0.7898	M	0.64997	1.995	0.80722	D	1	D;B;P	0.56746	0.977;0.449;0.759	P;B;P	0.59546	0.859;0.363;0.564	D	0.93939	0.7221	10	0.87932	D	0	-4.3579	14.7292	0.69368	0.0:0.0:0.0:1.0	.	164;164;164	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	S	164	ENSP00000350310:L164S;ENSP00000356187:L164S;ENSP00000356188:L164S;ENSP00000375816:L164S;ENSP00000340930:L164S	ENSP00000340930:L164S	L	+	2	0	ATP2B4	201935310	1.000000	0.71417	0.456000	0.27044	0.997000	0.91878	8.035000	0.88872	1.974000	0.57490	0.533000	0.62120	TTA	ATP2B4	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000058668		0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1		0.00	56	0	T	NM_001001396		203668687	+1			no_errors	ENST00000357681	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	C
B4GALT6	9331	genome.wustl.edu	37	18	29218605	29218605	+	Splice_Site	SNP	A	A	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr18:29218605A>G	ENST00000306851.5	-	5	885		c.e5+1		B4GALT6_ENST00000237019.7_Splice_Site|B4GALT6_ENST00000383131.3_Intron	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAGTATTCTCACCTGTTCAAT	0.343																																																	0													89.0	90.0	90.0					18																	29218605		2203	4300	6503	SO:0001630	splice_region_variant	0			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.588+1T>C	18.37:g.29218605A>G			O60514|Q6NT09	Splice_Site	SNP	-	e5+2	ENST00000306851.5	37	c.588+2	CCDS11900.1	18	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357986	0.82243	.	.	ENSG00000118276	ENST00000306851;ENST00000237019	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9443	0.79782	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	B4GALT6	27472603	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	8.962000	0.93254	2.173000	0.68751	0.460000	0.39030	.	B4GALT6	-	-	ENSG00000118276		0.343	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2		0.00	58	0	A	NM_004775	Intron	29218605	-1			no_errors	ENST00000306851	ensembl	human	known	74_37	splice_site	11.43	31	4	SNP	1.000	G
BCL10	8915	genome.wustl.edu	37	1	85733626	85733626	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:85733626G>A	ENST00000370580.1	-	3	1123	c.386C>T	c.(385-387)gCc>gTc	p.A129V		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	129					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTTGTTCGTGGCTCCATCTGG	0.388			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)			Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	0													90.0	88.0	89.0					1																	85733626		2203	4300	6503	SO:0001583	missense	0			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.386C>T	1.37:g.85733626G>A	ENSP00000359612:p.Ala129Val		Q5VUF1	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.A129V	ENST00000370580.1	37	c.386	CCDS704.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097339	0.76870	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	.	.	.	5.98	5.98	0.97165	.	0.290751	0.36303	N	0.002669	T	0.30665	0.0772	L	0.43152	1.355	0.34355	D	0.690297	B	0.30068	0.267	B	0.28139	0.086	T	0.30387	-0.9980	9	0.46703	T	0.11	-12.6067	12.2468	0.54574	0.0:0.1353:0.7396:0.1251	.	129	O95999	BCL10_HUMAN	V	129;129;118	.	ENSP00000271015:A129V	A	-	2	0	BCL10	85506214	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.983000	0.56916	2.838000	0.97847	0.591000	0.81541	GCC	BCL10	-	NULL	ENSG00000142867		0.388	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL10	HGNC	protein_coding	OTTHUMT00000027612.1		0.00	28	0	G	NM_003921		85733626	-1			no_errors	ENST00000370580	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A
BCL9	607	genome.wustl.edu	37	1	147090734	147090734	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:147090734C>T	ENST00000234739.3	+	8	1513	c.773C>T	c.(772-774)cCa>cTa	p.P258L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	258	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAGCCAACTCCACCCATTCCG	0.587			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													70.0	71.0	70.0					1																	147090734		2203	4300	6503	SO:0001583	missense	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.773C>T	1.37:g.147090734C>T	ENSP00000234739:p.Pro258Leu		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P258L	ENST00000234739.3	37	c.773	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047263	0.55110	.	.	ENSG00000116128	ENST00000234739	T	0.67345	-0.26	5.46	5.46	0.80206	.	0.291123	0.36303	N	0.002664	T	0.41604	0.1166	N	0.22421	0.69	0.52099	D	0.999949	P;P	0.37781	0.608;0.608	B;B	0.35550	0.205;0.205	T	0.54556	-0.8276	10	0.72032	D	0.01	-5.4675	14.3604	0.66768	0.1477:0.8522:0.0:0.0	.	258;258	Q1JQ81;O00512	.;BCL9_HUMAN	L	258	ENSP00000234739:P258L	ENSP00000234739:P258L	P	+	2	0	BCL9	145557358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.778000	0.47726	2.840000	0.97914	0.655000	0.94253	CCA	BCL9	-	NULL	ENSG00000116128		0.587	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1		0.00	27	0	C	NM_004326		147090734	+1			no_errors	ENST00000234739	ensembl	human	known	74_37	missense	18.18	9	2	SNP	1.000	T
BRWD1	54014	genome.wustl.edu	37	21	40590524	40590524	+	Missense_Mutation	SNP	G	G	A	rs145907251		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr21:40590524G>A	ENST00000333229.2	-	30	3772	c.3445C>T	c.(3445-3447)Ctc>Ttc	p.L1149F	BRWD1_ENST00000380800.3_Missense_Mutation_p.L1149F|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000342449.3_Missense_Mutation_p.L1149F	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1149					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGTTTATAGAGCAATTTCTCT	0.348																																					Melanoma(170;988 1986 4794 16843 39731)												0													130.0	115.0	120.0					21																	40590524		2203	4299	6502	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3445C>T	21.37:g.40590524G>A	ENSP00000330753:p.Leu1149Phe		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.L1149F	ENST00000333229.2	37	c.3445	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.438683|3.438683	0.62955|0.62955	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.61274	.|0.12;0.16;0.24	5.36|5.36	4.28|4.28	0.50868|0.50868	.|.	.|0.000000	.|0.56097	.|D	.|0.000021	T|T	0.72835|0.72835	0.3510|0.3510	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.995;0.997;0.999	.|D;D;D	.|0.76071	.|0.947;0.987;0.96	T|T	0.75657|0.75657	-0.3242|-0.3242	5|10	.|0.72032	.|D	.|0.01	-3.6035|-3.6035	12.7679|12.7679	0.57403|0.57403	0.1379:0.0:0.8621:0.0|0.1379:0.0:0.8621:0.0	.|.	.|1149;1149;1149	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	V|F	134|1149;1149;1149;153	.|ENSP00000330753:L1149F;ENSP00000344333:L1149F;ENSP00000370178:L1149F	.|ENSP00000330753:L1149F	A|L	-|-	2|1	0|0	BRWD1|BRWD1	39512394|39512394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	2.580000|2.580000	0.46068|0.46068	2.522000|2.522000	0.85027|0.85027	0.563000|0.563000	0.77884|0.77884	GCT|CTC	BRWD1	-	NULL	ENSG00000185658		0.348	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3		0.00	77	0	G	NM_033656		40590524	-1			no_errors	ENST00000333229	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
C1S	716	genome.wustl.edu	37	12	7175811	7175811	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:7175811C>T	ENST00000406697.1	+	14	1875	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	C1S_ENST00000402681.3_Missense_Mutation_p.P249L|C1S_ENST00000328916.3_Missense_Mutation_p.P416L|C1S_ENST00000360817.5_Missense_Mutation_p.P416L|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	416	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTGCTGGGCCCGGAGCTGCCG	0.552																																					GBM(156;750 1943 12971 24779 31015)												0													228.0	179.0	195.0					12																	7175811		2203	4300	6503	SO:0001583	missense	0				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1247C>T	12.37:g.7175811C>T	ENSP00000385035:p.Pro416Leu		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P416L	ENST00000406697.1	37	c.1247	CCDS31735.1	12	.	.	.	.	.	.	.	.	.	.	C	5.165	0.216089	0.09810	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.4	-0.35	0.12606	Complement control module (2);Sushi/SCR/CCP (2);	1.415250	0.04689	N	0.413758	T	0.31918	0.0812	N	0.14661	0.345	0.09310	N	1	B	0.19200	0.034	B	0.19391	0.025	T	0.26360	-1.0105	10	0.31617	T	0.26	.	9.552	0.39315	0.0:0.5374:0.0:0.4626	.	416	P09871	C1S_HUMAN	L	416;416;416;410;249	ENSP00000385035:P416L;ENSP00000328173:P416L;ENSP00000354057:P416L;ENSP00000384171:P249L	ENSP00000328173:P416L	P	+	2	0	C1S	7046072	0.000000	0.05858	0.001000	0.08648	0.128000	0.20619	0.319000	0.19522	0.015000	0.14971	0.462000	0.41574	CCG	C1S	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000182326		0.552	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1S	HGNC	protein_coding	OTTHUMT00000317481.1		0.00	63	0	C	NM_001734		7175811	+1			no_errors	ENST00000328916	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.000	T
C5	727	genome.wustl.edu	37	9	123738997	123738997	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:123738997C>T	ENST00000223642.1	-	29	3874	c.3845G>A	c.(3844-3846)gGt>gAt	p.G1282D		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1282					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	ATAAAAGCCACCTCCATACCT	0.413																																																	0													143.0	142.0	143.0					9																	123738997		2203	4300	6503	SO:0001583	missense	0			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3845G>A	9.37:g.123738997C>T	ENSP00000223642:p.Gly1282Asp		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom	p.G1282D	ENST00000223642.1	37	c.3845	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214361	0.79352	.	.	ENSG00000106804	ENST00000223642	T	0.67345	-0.26	5.38	5.38	0.77491	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.155990	0.56097	D	0.000025	D	0.87099	0.6093	H	0.94306	3.52	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.90526	0.4492	10	0.72032	D	0.01	.	18.1225	0.89576	0.0:1.0:0.0:0.0	.	1282	P01031	CO5_HUMAN	D	1282	ENSP00000223642:G1282D	ENSP00000223642:G1282D	G	-	2	0	C5	122778818	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	5.446000	0.66600	2.501000	0.84356	0.563000	0.77884	GGT	C5	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000106804		0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1		0.00	45	0	C	NM_001735		123738997	-1			no_errors	ENST00000223642	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.998	T
CAND2	23066	genome.wustl.edu	37	3	12892166	12892166	+	IGR	SNP	C	C	T	rs532703263		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr3:12892166C>T								RPL32 (9079 upstream) : RP11-767C1.1 (26854 downstream)																							AGGAACCAAACGCCAACAGTG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21223	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	0																															3.37:g.12892166C>T				Silent	SNP	pfam_TATA-bd_TIP120,superfamily_ARM-type_fold	p.N92		37	c.276		3																																																																																			CAND2	-	pfam_TATA-bd_TIP120,superfamily_ARM-type_fold	ENSG00000144712	0	0.557					CAND2	HGNC				0.00	59	0	C			12892166	+1			no_errors	ENST00000454887	ensembl	human	putative	74_37	silent	17.95	32	7	SNP	1.000	T
CAPN6	827	genome.wustl.edu	37	X	110496391	110496391	+	Silent	SNP	G	G	A	rs17882737	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:110496391G>A	ENST00000324068.1	-	4	518	c.351C>T	c.(349-351)taC>taT	p.Y117Y	CAPN6_ENST00000541758.1_De_novo_Start_OutOfFrame	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	117	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATATCCCAGCGTATTTTTCTG	0.403													G|||	314	0.0831788	0.2179	0.0288	3775	,	,		15883	0.0		0.006	False		,,,				2504	0.0																0								G		956,2879		93,615,155,924,416	112.0	106.0	108.0		351	2.2	1.0	X	dbSNP_124	108	38,6690		0,23,15,2405,1857	no	coding-synonymous	CAPN6	NM_014289.3		93,638,170,3329,2273	AA,AG,A,GG,G		0.5648,24.9283,9.4102		117/642	110496391	994,9569	2203	4300	6503	SO:0001819	synonymous_variant	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.351C>T	X.37:g.110496391G>A			D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Y117	ENST00000324068.1	37	c.351	CCDS14555.1	X																																																																																			CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000077274		0.403	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1		0.00	62	0	G			110496391	-1			no_errors	ENST00000324068	ensembl	human	known	74_37	silent	13.73	44	7	SNP	1.000	A
CBL	867	genome.wustl.edu	37	11	119155736	119155736	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:119155736C>T	ENST00000264033.4	+	10	1865	c.1489C>T	c.(1489-1491)Cca>Tca	p.P497S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	497	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCCGGTGCCACCACGACT	0.498			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													95.0	88.0	90.0					11																	119155736		2199	4295	6494	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1489C>T	11.37:g.119155736C>T	ENSP00000264033:p.Pro497Ser	1494	A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.P497S	ENST00000264033.4	37	c.1489	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804579	0.70682	.	.	ENSG00000110395	ENST00000264033	D	0.84298	-1.83	5.34	5.34	0.76211	.	0.049752	0.85682	D	0.000000	D	0.92420	0.7594	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91662	0.5343	10	0.45353	T	0.12	-35.2154	18.8226	0.92103	0.0:1.0:0.0:0.0	.	497	P22681	CBL_HUMAN	S	497	ENSP00000264033:P497S	ENSP00000264033:P497S	P	+	1	0	CBL	118660946	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.021000	0.76425	2.780000	0.95670	0.585000	0.79938	CCA	CBL	-	NULL	ENSG00000110395		0.498	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4		0.00	43	0	C	NM_005188		119155736	+1			no_errors	ENST00000264033	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
CCDC175	729665	genome.wustl.edu	37	14	60004862	60004862	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:60004862C>T	ENST00000537690.2	-	13	1557	c.1502G>A	c.(1501-1503)aGa>aAa	p.R501K	CCDC175_ENST00000281581.4_Missense_Mutation_p.R501K	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	501																	CTCCTGTTGTCTGAAACTGGT	0.323																																																	0													141.0	106.0	117.0					14																	60004862		692	1591	2283	SO:0001583	missense	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.1502G>A	14.37:g.60004862C>T	ENSP00000453940:p.Arg501Lys		G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.R501K	ENST00000537690.2	37	c.1502	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	C	8.854	0.945303	0.18356	.	.	ENSG00000151838	ENST00000555041	.	.	.	4.94	2.11	0.27256	.	0.124220	0.37219	N	0.002191	T	0.18923	0.0454	L	0.34521	1.04	0.09310	N	1	.	.	.	.	.	.	T	0.22906	-1.0203	7	0.05721	T	0.95	-15.1733	4.4716	0.11715	0.0:0.617:0.1871:0.196	.	.	.	.	K	501	.	ENSP00000281581:R501K	R	-	2	0	C14orf38	59074615	0.003000	0.15002	0.032000	0.17829	0.003000	0.03518	0.344000	0.19962	0.770000	0.33336	0.561000	0.74099	AGA	CCDC175	-	NULL	ENSG00000151838		0.323	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1		0.00	56	0	C	NM_001164399		60004862	-1			no_errors	ENST00000281581	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.003	T
CCDC63	160762	genome.wustl.edu	37	12	111311719	111311719	+	Missense_Mutation	SNP	G	G	T	rs149075085		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:111311719G>T	ENST00000308208.5	+	5	685	c.443G>T	c.(442-444)cGg>cTg	p.R148L	CCDC63_ENST00000552694.1_Missense_Mutation_p.R69L|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.R108L	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	148								p.R148Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AATAACCCCCGGAAACTGCAG	0.418																																																	1	Substitution - Missense(1)	skin(1)											101.0	105.0	104.0					12																	111311719		2203	4300	6503	SO:0001583	missense	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.443G>T	12.37:g.111311719G>T	ENSP00000312399:p.Arg148Leu		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.R148L	ENST00000308208.5	37	c.443	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347446	0.41599	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.32023	1.47;1.47;1.47	5.8	-1.49	0.08718	.	0.872808	0.10206	N	0.702771	T	0.26738	0.0654	M	0.64997	1.995	0.24449	N	0.994497	P;P	0.47191	0.891;0.891	B;B	0.38378	0.272;0.272	T	0.18147	-1.0346	10	0.32370	T	0.25	.	10.2839	0.43556	0.5011:0.0:0.4989:0.0	.	108;148	B4DY03;Q8NA47	.;CCD63_HUMAN	L	108;148;69	ENSP00000445881:R108L;ENSP00000312399:R148L;ENSP00000450217:R69L	ENSP00000312399:R148L	R	+	2	0	CCDC63	109796102	0.001000	0.12720	0.904000	0.35570	0.228000	0.25075	-0.756000	0.04777	-0.634000	0.05538	-0.982000	0.02568	CGG	CCDC63	-	NULL	ENSG00000173093		0.418	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2		0.00	34	0	G	NM_152591		111311719	+1			no_errors	ENST00000308208	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.972	T
CCL7	6354	genome.wustl.edu	37	17	32597294	32597294	+	5'UTR	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:32597294G>T	ENST00000378569.2	+	0	55				CCL7_ENST00000394627.1_5'UTR|CCL7_ENST00000200307.4_Missense_Mutation_p.M5I|CCL7_ENST00000394630.3_5'UTR	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7						cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GGAAGCCCATGCCCTCACCCT	0.557																																																	0													72.0	60.0	64.0					17																	32597294		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"""Chemokine ligands"", ""Endogenous ligands"""	10634	protein-coding gene	gene with protein product	"""monocyte chemoattractant protein 3"", ""monocyte chemotactic protein 3"""	158106	"""small inducible cytokine A7 (monocyte chemotactic protein 3)"""	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:c.-16G>T	17.37:g.32597294G>T			Q569J6	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.M5I	ENST00000378569.2	37	c.15	CCDS11278.1	17	.	.	.	.	.	.	.	.	.	.	G	0.110	-1.139617	0.01728	.	.	ENSG00000108688	ENST00000378569;ENST00000394630;ENST00000394627	.	.	.	2.94	-5.88	0.02290	.	10.005000	0.00166	N	0.000004	T	0.18718	0.0449	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05419	-1.0886	6	0.32370	T	0.25	.	0.5309	0.00628	0.3313:0.2783:0.2081:0.1822	.	.	.	.	I	5	.	ENSP00000367832:M5I	M	+	3	0	CCL7	29621407	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.243000	0.08915	-1.735000	0.01353	-0.157000	0.13467	ATG	CCL7	-	NULL	ENSG00000108688		0.557	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CCL7	HGNC	protein_coding	OTTHUMT00000256386.2		0.00	17	0	G	NM_006273		32597294	+1			no_errors	ENST00000200307	ensembl	human	known	74_37	missense	39.29	16	11	SNP	0.000	T
CCR9	10803	genome.wustl.edu	37	3	45943257	45943257	+	Missense_Mutation	SNP	G	G	A	rs201410158		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr3:45943257G>A	ENST00000357632.2	+	3	1157	c.977G>A	c.(976-978)cGg>cAg	p.R326Q	CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.R314Q|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.R314Q	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	326					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AGATTCCGCCGGGATCTCGTG	0.507																																																	0													93.0	89.0	91.0					3																	45943257		2203	4300	6503	SO:0001583	missense	0			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.977G>A	3.37:g.45943257G>A	ENSP00000350256:p.Arg326Gln		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4	p.R326Q	ENST00000357632.2	37	c.977	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	G	9.708	1.156385	0.21454	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.38240	1.15;1.15;1.15	4.96	2.15	0.27550	.	0.335227	0.27725	N	0.018107	T	0.17280	0.0415	L	0.29908	0.895	0.29538	N	0.852312	P	0.35411	0.5	B	0.23150	0.044	T	0.08743	-1.0707	10	0.23891	T	0.37	.	5.1887	0.15197	0.2796:0.0:0.5624:0.1579	.	326	P51686	CCR9_HUMAN	Q	326;314;314	ENSP00000350256:R326Q;ENSP00000379292:R314Q;ENSP00000348260:R314Q	ENSP00000348260:R314Q	R	+	2	0	CCR9	45918261	0.003000	0.15002	0.998000	0.56505	0.892000	0.51952	1.433000	0.34947	1.082000	0.41137	0.563000	0.77884	CGG	CCR9	-	prints_Chemokine_CCR9,prints_Chemokine_rcpt	ENSG00000173585		0.507	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2		0.00	19	0	G			45943257	+1			no_errors	ENST00000357632	ensembl	human	known	74_37	missense	29.41	12	5	SNP	0.865	A
CD163	9332	genome.wustl.edu	37	12	7635290	7635290	+	Missense_Mutation	SNP	C	C	T	rs139478533	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:7635290C>T	ENST00000359156.4	-	14	3398	c.3196G>A	c.(3196-3198)Gtc>Atc	p.V1066I	CD163_ENST00000541972.1_Missense_Mutation_p.V1054I|CD163_ENST00000432237.2_Missense_Mutation_p.V1066I|CD163_ENST00000396620.3_Missense_Mutation_p.V1099I|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.V1066I(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AATAATGCGACGAAAATGGCC	0.423													C|||	15	0.00299521	0.0113	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)						C	ILE/VAL,ILE/VAL	46,4360	48.9+/-83.8	0,46,2157	130.0	138.0	135.0		3196,3196	-0.6	0.0	12	dbSNP_134	135	0,8600		0,0,4300	yes	missense,missense	CD163	NM_004244.5,NM_203416.3	29,29	0,46,6457	TT,TC,CC		0.0,1.044,0.3537	benign,benign	1066/1157,1066/1122	7635290	46,12960	2203	4300	6503	SO:0001583	missense	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3196G>A	12.37:g.7635290C>T	ENSP00000352071:p.Val1066Ile		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.V1066I	ENST00000359156.4	37	c.3196	CCDS8578.1	12	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	0.032	-1.330477	0.01298	0.01044	0.0	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01240	5.12;5.14;5.16;5.13	4.32	-0.639	0.11497	.	1.150940	0.06616	N	0.756554	T	0.00440	0.0014	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43523	-0.9386	10	0.02654	T	1	.	7.6763	0.28488	0.0:0.3086:0.0:0.6914	.	1099;1066;1066	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	I	1066;1054;1099;1066	ENSP00000352071:V1066I;ENSP00000444071:V1054I;ENSP00000379863:V1099I;ENSP00000403885:V1066I	ENSP00000352071:V1066I	V	-	1	0	CD163	7526557	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.734000	0.04893	-0.102000	0.12197	-1.193000	0.01689	GTC	CD163	-	NULL	ENSG00000177575		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2		0.00	24	0	C	NM_004244, NM_203416		7635290	-1			no_errors	ENST00000359156	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.001	T
CDKN2A	1029	genome.wustl.edu	37	9	21974668	21974668	+	Intron	SNP	T	T	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:21974668T>A	ENST00000304494.5	-	1	421				CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000446177.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(12)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTGCAGACCCTCTACCCACCT	0.657		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1329	Whole gene deletion(1316)|Unknown(12)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(162)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											104.0	122.0	116.0					9																	21974668		2203	4300	6503	SO:0001627	intron_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+8A>T	9.37:g.21974668T>A			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R53S	ENST00000304494.5	37	c.159	CCDS6510.1	9																																																																																			CDKN2A	-	NULL	ENSG00000147889		0.657	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0.00	22	0	T	NM_000077		21974668	-1			no_errors	ENST00000380151	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.000	A
CDKN2A	1029	genome.wustl.edu	37	9	21974670	21974670	+	Intron	SNP	T	T	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:21974670T>G	ENST00000304494.5	-	1	421				CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000446177.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(12)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACCCTCTACCCACCTGG	0.662		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1329	Whole gene deletion(1316)|Unknown(12)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(162)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											100.0	118.0	112.0					9																	21974670		2203	4300	6503	SO:0001627	intron_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+6A>C	9.37:g.21974670T>G			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R53	ENST00000304494.5	37	c.157	CCDS6510.1	9																																																																																			CDKN2A	-	NULL	ENSG00000147889		0.662	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0.00	20	0	T	NM_000077		21974670	-1			no_errors	ENST00000380151	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.000	G
CEBPZ	10153	genome.wustl.edu	37	2	37455900	37455900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:37455900C>A	ENST00000234170.5	-	2	581	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	NDUFAF7_ENST00000336237.6_5'Flank|NDUFAF7_ENST00000002125.4_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	146					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAATGTGGTTCTGGCCTATTC	0.323																																																	0													136.0	136.0	136.0					2																	37455900		2203	4300	6503	SO:0001587	stop_gained	0			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.436G>T	2.37:g.37455900C>A	ENSP00000234170:p.Glu146*		Q8NE75	Nonsense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.E146*	ENST00000234170.5	37	c.436	CCDS1787.1	2	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619703	0.28801	.	.	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	.	.	.	5.65	4.77	0.60923	.	0.746815	0.13061	N	0.416866	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.7141	0.88331	0.0:0.9349:0.0:0.0651	.	.	.	.	X	146;146;97	.	ENSP00000234170:E146X	E	-	1	0	CEBPZ	37309404	0.013000	0.17824	0.268000	0.24571	0.034000	0.12701	0.647000	0.24812	0.742000	0.32697	-0.797000	0.03246	GAA	CEBPZ	-	NULL	ENSG00000115816		0.323	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2		0.00	73	0	C	NM_005760		37455900	-1			no_errors	ENST00000234170	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	0.582	A
CELF4	56853	genome.wustl.edu	37	18	34833808	34833808	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr18:34833808A>C	ENST00000591282.1	-	12	1426	c.1427T>G	c.(1426-1428)cTg>cGg	p.L476R	CELF4_ENST00000420428.2_Missense_Mutation_p.L476R|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000591287.1_Missense_Mutation_p.L474R|CELF4_ENST00000334919.5_Missense_Mutation_p.L438R|CELF4_ENST00000603232.1_Missense_Mutation_p.L475R|CELF4_ENST00000601019.1_Missense_Mutation_p.L474R|CELF4_ENST00000412753.1_Missense_Mutation_p.L475R|CELF4_ENST00000361795.5_Missense_Mutation_p.L474R			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	476	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGGCCGCTTCAGCTGCACCTT	0.692																																																	0													64.0	62.0	63.0					18																	34833808		2203	4300	6503	SO:0001583	missense	0			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1427T>G	18.37:g.34833808A>C	ENSP00000464794:p.Leu476Arg		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L476R	ENST00000591282.1	37	c.1427	CCDS32818.1	18	.	.	.	.	.	.	.	.	.	.	A	29.1	4.978204	0.92982	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.06849	3.25;3.25	4.11	4.11	0.48088	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.64402	D	0.000004	T	0.15696	0.0378	N	0.20766	0.605	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.999;1.0	D;D;D;D	0.91635	0.999;0.991;0.987;0.993	T	0.05784	-1.0864	10	0.87932	D	0	-5.5895	13.3413	0.60547	1.0:0.0:0.0:0.0	.	474;438;474;476	Q9BZC1-3;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;CELF4_HUMAN	R	476;475;474;438	ENSP00000406823:L475R;ENSP00000335631:L438R	ENSP00000335631:L438R	L	-	2	0	CELF4	33087806	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.863000	0.92288	1.736000	0.51660	0.387000	0.25754	CTG	CELF4	-	pfscan_RRM_dom	ENSG00000101489		0.692	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1		0.00	48	0	A	NM_020180		34833808	-1			no_errors	ENST00000420428	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C
COG5	10466	genome.wustl.edu	37	7	106964908	106964908	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:106964908G>A	ENST00000347053.3	-	11	1228	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	COG5_ENST00000297135.3_Missense_Mutation_p.S393F|COG5_ENST00000393603.2_Missense_Mutation_p.S393F	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	393					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATGAAATTGAGAAGAAAGTGC	0.274																																																	0													48.0	56.0	53.0					7																	106964908		2203	4292	6495	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1178C>T	7.37:g.106964908G>A	ENSP00000334703:p.Ser393Phe		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_Cog5	p.S393F	ENST00000347053.3	37	c.1178	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853827	0.32791	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.58060	0.36;0.36;0.36	4.71	4.71	0.59529	.	0.251463	0.41938	D	0.000783	T	0.58509	0.2127	M	0.68952	2.095	0.48341	D	0.999638	P;D	0.53312	0.913;0.959	B;P	0.46543	0.254;0.52	T	0.65586	-0.6132	10	0.62326	D	0.03	-14.4473	16.949	0.86239	0.0:0.0:1.0:0.0	.	393;393	Q9UP83;Q9UP83-2	COG5_HUMAN;.	F	393	ENSP00000334703:S393F;ENSP00000297135:S393F;ENSP00000377228:S393F	ENSP00000297135:S393F	S	-	2	0	COG5	106752144	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	3.597000	0.54031	2.598000	0.87819	0.650000	0.86243	TCT	COG5	-	NULL	ENSG00000164597		0.274	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4		0.00	140	0	G			106964908	-1			no_errors	ENST00000297135	ensembl	human	known	74_37	missense	30.41	119	52	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238285682	238285682	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:238285682G>A	ENST00000295550.4	-	7	3255	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	COL6A3_ENST00000347401.3_Missense_Mutation_p.R734W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R735W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R328W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R528W|COL6A3_ENST00000392004.3_Missense_Mutation_p.R729W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R729W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R729W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	935	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCTCGATCCGGCTGCCAGCA	0.547																																																	0													95.0	80.0	85.0					2																	238285682		2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2803C>T	2.37:g.238285682G>A	ENSP00000295550:p.Arg935Trp		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R935W	ENST00000295550.4	37	c.2803	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341024	0.60963	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.55	4.59	0.56863	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000059	T	0.80859	0.4704	M	0.93241	3.395	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.85232	0.1033	10	0.87932	D	0	.	13.0874	0.59149	0.0:0.0:0.757:0.243	.	735;328;528;729;729;935	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	W	935;734;729;328;729;735;729;528	ENSP00000295550:R935W;ENSP00000315609:R734W;ENSP00000315873:R729W;ENSP00000418285:R328W;ENSP00000386844:R729W;ENSP00000295546:R735W;ENSP00000375861:R729W;ENSP00000375860:R528W	ENSP00000295550:R935W	R	-	1	2	COL6A3	237950421	1.000000	0.71417	0.996000	0.52242	0.222000	0.24845	3.814000	0.55643	2.610000	0.88304	0.655000	0.94253	CGG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0.00	20	0	G	NM_004369		238285682	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	A
COMT	1312	genome.wustl.edu	37	22	19956208	19956208	+	Silent	SNP	C	C	T	rs201893998		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:19956208C>T	ENST00000361682.6	+	6	1147	c.765C>T	c.(763-765)gaC>gaT	p.D255D	COMT_ENST00000406520.3_Silent_p.D255D|COMT_ENST00000403710.1_Silent_p.D255D|COMT_ENST00000407537.1_Silent_p.D205D|COMT_ENST00000449653.1_Silent_p.D205D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	255					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	AGGTGGTGGACGGCCTGGAGA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15485	0.0		0.0	False		,,,				2504	0.0																0													75.0	63.0	67.0					22																	19956208		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.765C>T	22.37:g.19956208C>T			A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk	p.D255	ENST00000361682.6	37	c.765	CCDS13770.1	22																																																																																			COMT	-	pirsf_Catechol_O-MeTrfase_euk	ENSG00000093010		0.647	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	COMT	HGNC	protein_coding	OTTHUMT00000318936.2		0.00	17	0	C	NM_000754		19956208	+1			no_errors	ENST00000361682	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.853	T
CRMP1	1400	genome.wustl.edu	37	4	5830268	5830268	+	Missense_Mutation	SNP	G	G	A	rs370759908		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:5830268G>A	ENST00000397890.2	-	12	1623	c.1409C>T	c.(1408-1410)cCg>cTg	p.P470L	CRMP1_ENST00000324989.7_Missense_Mutation_p.P584L|CRMP1_ENST00000511535.1_5'UTR|EVC_ENST00000382674.2_3'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.P468L	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	470					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CGCCTTCCGCGGAATGAAGCG	0.597																																																	0								G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	140.0	102.0	115.0		1751,1409	4.3	1.0	4		115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CRMP1	NM_001014809.1,NM_001313.3	98,98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	584/687,470/573	5830268	2,13004	2203	4300	6503	SO:0001583	missense	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1409C>T	4.37:g.5830268G>A	ENSP00000380987:p.Pro470Leu		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.P584L	ENST00000397890.2	37	c.1751	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032110	0.75504	2.27E-4	1.16E-4	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	T;T;T	0.73789	-0.78;-0.78;-0.78	4.33	4.33	0.51752	Metal-dependent hydrolase, composite domain (1);	0.119068	0.64402	D	0.000017	T	0.79551	0.4465	M	0.88775	2.98	0.80722	D	1	P;D;P;D	0.69078	0.942;0.997;0.947;0.975	B;B;B;B	0.43301	0.337;0.415;0.087;0.301	D	0.86078	0.1542	10	0.87932	D	0	-30.94	15.9993	0.80280	0.0:0.0:1.0:0.0	.	584;468;470;407	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	L	584;470;470;468	ENSP00000321606:P584L;ENSP00000380987:P470L;ENSP00000425742:P468L	ENSP00000321606:P584L	P	-	2	0	CRMP1	5881169	1.000000	0.71417	0.963000	0.40424	0.271000	0.26615	7.350000	0.79385	2.245000	0.73994	0.561000	0.74099	CCG	CRMP1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.597	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1		0.00	49	0	G	NM_001313		5830268	-1			no_errors	ENST00000324989	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	A
CSGALNACT2	55454	genome.wustl.edu	37	10	43678922	43678922	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:43678922T>C	ENST00000374466.3	+	8	1896	c.1561T>C	c.(1561-1563)Ttc>Ctc	p.F521L		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	521					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGCTGGTCTTCAGGGAGGA	0.483																																																	0													108.0	105.0	106.0					10																	43678922		2203	4300	6503	SO:0001583	missense	0			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1561T>C	10.37:g.43678922T>C	ENSP00000363590:p.Phe521Leu		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.F521L	ENST00000374466.3	37	c.1561	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	T	35	5.488614	0.96323	.	.	ENSG00000169826	ENST00000374466	T	0.47869	0.83	5.87	5.87	0.94306	.	0.088848	0.85682	D	0.000000	T	0.66376	0.2783	M	0.67953	2.075	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.65331	-0.6194	10	0.42905	T	0.14	-13.0504	16.5764	0.84681	0.0:0.0:0.0:1.0	.	521	Q8N6G5	CGAT2_HUMAN	L	521	ENSP00000363590:F521L	ENSP00000363590:F521L	F	+	1	0	CSGALNACT2	42998928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.536000	0.82023	2.371000	0.80710	0.533000	0.62120	TTC	CSGALNACT2	-	NULL	ENSG00000169826		0.483	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1		0.00	57	0	T	NM_018590		43678922	+1			no_errors	ENST00000374466	ensembl	human	known	74_37	missense	40.35	34	23	SNP	1.000	C
CSMD3	114788	genome.wustl.edu	37	8	113812439	113812439	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:113812439G>T	ENST00000297405.5	-	13	2168	c.1924C>A	c.(1924-1926)Caa>Aaa	p.Q642K	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q602K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q642K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q538K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	642	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCGTCCGTTTGAAGGTGCAGC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													145.0	128.0	134.0					8																	113812439		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1924C>A	8.37:g.113812439G>T	ENSP00000297405:p.Gln642Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q642K	ENST00000297405.5	37	c.1924	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607642	0.66558	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.73	5.73	0.89815	CUB (5);	0.000000	0.64402	D	0.000003	T	0.31199	0.0789	N	0.11845	0.185	0.45607	D	0.998545	D;D;P	0.60160	0.987;0.983;0.916	D;D;P	0.79784	0.92;0.993;0.503	T	0.03175	-1.1064	10	0.05959	T	0.93	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	538;642;602	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	602;642;538;642	ENSP00000345799:Q602K;ENSP00000297405:Q642K;ENSP00000412263:Q538K;ENSP00000343124:Q642K	ENSP00000297405:Q642K	Q	-	1	0	CSMD3	113881615	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.643000	0.98464	2.718000	0.92993	0.650000	0.86243	CAA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0.00	59	0	G	NM_052900		113812439	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
CSNK2A2	1459	genome.wustl.edu	37	16	58200582	58200582	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:58200582G>A	ENST00000262506.3	-	9	916	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						TTGGCAATGCGAACAAGCTGA	0.458																																					Melanoma(54;119 1219 18349 35700 39738)												0													178.0	150.0	159.0					16																	58200582		2198	4300	6498	SO:0001583	missense	0			M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.733C>T	16.37:g.58200582G>A	ENSP00000262506:p.Arg245Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R245C	ENST00000262506.3	37	c.733	CCDS10794.1	16	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753642	0.49362	.	.	ENSG00000070770	ENST00000262506	T	0.66460	-0.21	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	L	0.53561	1.675	0.80722	D	1	D	0.54047	0.964	P	0.51055	0.657	T	0.73877	-0.3844	10	0.62326	D	0.03	-19.2124	19.848	0.96722	0.0:0.0:1.0:0.0	.	245	P19784	CSK22_HUMAN	C	245	ENSP00000262506:R245C	ENSP00000262506:R245C	R	-	1	0	CSNK2A2	56758083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.629000	0.74267	2.937000	0.99478	0.650000	0.86243	CGC	CSNK2A2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000070770		0.458	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK2A2	HGNC	protein_coding	OTTHUMT00000257386.2		0.00	26	0	G	NM_001896		58200582	-1			no_errors	ENST00000262506	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	A
CTNNA1	1495	genome.wustl.edu	37	5	138160336	138160336	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:138160336G>T	ENST00000302763.7	+	6	796	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S	CTNNA1_ENST00000355078.5_Missense_Mutation_p.A133S|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A236S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	236					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGATGTCGCAGCCTATAAGGC	0.557																																																	0													77.0	73.0	74.0					5																	138160336		2203	4300	6503	SO:0001583	missense	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.706G>T	5.37:g.138160336G>T	ENSP00000304669:p.Ala236Ser		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A236S	ENST00000302763.7	37	c.706	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691902	0.68271	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000518910;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	N	0.17312	0.475	0.80722	D	1	B;B	0.19935	0.04;0.025	B;B	0.40199	0.073;0.322	T	0.06250	-1.0837	10	0.02654	T	1	-10.9845	19.1866	0.93647	0.0:0.0:1.0:0.0	.	236;236	G3XAM7;P35221	.;CTNA1_HUMAN	S	133;236;133;236;221;236	ENSP00000347190:A133S;ENSP00000304669:A236S;ENSP00000430626:A133S;ENSP00000427821:A236S	ENSP00000304669:A236S	A	+	1	0	CTNNA1	138188235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.636000	0.89361	0.491000	0.48974	GCC	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000044115		0.557	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1		0.00	26	0	G	NM_001903		138160336	+1			no_errors	ENST00000302763	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T
CUBN	8029	genome.wustl.edu	37	10	16870956	16870956	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:16870956C>T	ENST00000377833.4	-	66	10677	c.10612G>A	c.(10612-10614)Gag>Aag	p.E3538K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3538	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGACCCACTCGCAGTACGTG	0.507																																																	0													164.0	120.0	135.0					10																	16870956		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10612G>A	10.37:g.16870956C>T	ENSP00000367064:p.Glu3538Lys		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.E3538K	ENST00000377833.4	37	c.10612	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765906	0.69878	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.28666	1.6	5.94	5.94	0.96194	CUB (5);	0.000000	0.45867	D	0.000327	T	0.52354	0.1729	M	0.69185	2.1	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.30966	-0.9960	10	0.27082	T	0.32	.	18.5438	0.91039	0.0:1.0:0.0:0.0	.	3538	O60494	CUBN_HUMAN	K	3538;379	ENSP00000367064:E3538K	ENSP00000367064:E3538K	E	-	1	0	CUBN	16910962	1.000000	0.71417	0.847000	0.33407	0.030000	0.12068	6.031000	0.70911	2.826000	0.97356	0.561000	0.74099	GAG	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.507	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1		0.00	55	0	C	NM_001081		16870956	-1			no_errors	ENST00000377833	ensembl	human	known	74_37	missense	9.09	60	6	SNP	1.000	T
DAAM2	23500	genome.wustl.edu	37	6	39846025	39846034	+	Frame_Shift_Del	DEL	AAGTTCCGGA	AAGTTCCGGA	-	rs548803809|rs377282686		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	AAGTTCCGGA	AAGTTCCGGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:39846025_39846034delAAGTTCCGGA	ENST00000398904.2	+	12	1530_1539	c.1348_1357delAAGTTCCGGA	c.(1348-1359)aagttccggaaafs	p.KFRK450fs	DAAM2_ENST00000274867.4_Frame_Shift_Del_p.KFRK450fs|DAAM2_ENST00000538976.1_Frame_Shift_Del_p.KFRK450fs			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	450					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R452Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGGCAGAGAAGTTCCGGAAAGGTGAGGG	0.552																																																	1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1348_1357delAAGTTCCGGA	6.37:g.39846025_39846034delAAGTTCCGGA	ENSP00000381876:p.Lys450fs		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Frame_Shift_Del	DEL	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.F451fs	ENST00000398904.2	37	c.1348_1357	CCDS56426.1	6																																																																																			DAAM2	-	NULL	ENSG00000146122		0.552	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1		0.00	30	0	AAGTTCCGGA			39846034	+1			no_errors	ENST00000274867	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:1.000:1.000	0
DCHS1	8642	genome.wustl.edu	37	11	6648208	6648208	+	Missense_Mutation	SNP	C	C	T	rs141121553		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:6648208C>T	ENST00000299441.3	-	14	6473	c.6062G>A	c.(6061-6063)cGc>cAc	p.R2021H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2021	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGGGCCACGCGGATTTCACC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18116	0.0		0.0	False		,,,				2504	0.001																0								C	HIS/ARG	0,4402		0,0,2201	49.0	43.0	45.0		6062	5.2	1.0	11	dbSNP_134	45	3,8589	3.0+/-9.4	0,3,4293	yes	missense	DCHS1	NM_003737.2	29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	2021/3299	6648208	3,12991	2201	4296	6497	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6062G>A	11.37:g.6648208C>T	ENSP00000299441:p.Arg2021His		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R2021H	ENST00000299441.3	37	c.6062	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799332	0.70567	0.0	3.49E-4	ENSG00000166341	ENST00000299441	T	0.61627	0.09	5.18	5.18	0.71444	Cadherin (3);Cadherin-like (1);	0.000000	0.47852	D	0.000216	T	0.47655	0.1457	M	0.73430	2.235	0.47905	D	0.999544	P	0.40107	0.703	B	0.23716	0.048	T	0.48019	-0.9071	10	0.15952	T	0.53	.	11.4317	0.50045	0.0:0.9147:0.0:0.0853	.	2021	Q96JQ0	PCD16_HUMAN	H	2021	ENSP00000299441:R2021H	ENSP00000299441:R2021H	R	-	2	0	DCHS1	6604784	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	3.523000	0.53488	2.700000	0.92200	0.462000	0.41574	CGC	DCHS1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0.00	35	0	C	NM_003737		6648208	-1			no_errors	ENST00000299441	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.985	T
DCHS2	54798	genome.wustl.edu	37	4	155278439	155278439	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:155278439G>A	ENST00000357232.4	-	6	731	c.732C>T	c.(730-732)gtC>gtT	p.V244V	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	244	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctgaaaagttgacagcactca	0.428																																																	0													113.0	118.0	116.0					4																	155278439		2203	4300	6503	SO:0001819	synonymous_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.732C>T	4.37:g.155278439G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V244	ENST00000357232.4	37	c.732	CCDS3785.1	4																																																																																			DCHS2	-	pfscan_Cadherin	ENSG00000197410		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2		0.00	70	0	G	NM_001142552		155278439	-1			no_errors	ENST00000357232	ensembl	human	known	74_37	silent	26.56	47	17	SNP	0.003	A
DLGAP5	9787	genome.wustl.edu	37	14	55647457	55647457	+	Missense_Mutation	SNP	C	C	T	rs200979225	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:55647457C>T	ENST00000247191.2	-	6	836	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R207Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	207					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGTAGCTGATCGAGTCATTCT	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		20812	0.001		0.001	False		,,,				2504	0.0																0													200.0	176.0	184.0					14																	55647457		2203	4300	6503	SO:0001583	missense	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.620G>A	14.37:g.55647457C>T	ENSP00000247191:p.Arg207Gln		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.R207Q	ENST00000247191.2	37	c.620	CCDS9723.1	14	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.8	4.457542	0.84317	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	T;T;T	0.16897	2.31;2.31;2.31	5.3	4.39	0.52855	.	2.175190	0.01603	N	0.022131	T	0.36908	0.0984	L	0.59436	1.845	0.26377	N	0.976793	D;D	0.76494	0.999;0.998	P;P	0.57679	0.825;0.716	T	0.08513	-1.0718	10	0.40728	T	0.16	.	10.6926	0.45879	0.0:0.909:0.0:0.091	.	207;207	A8MTM6;Q15398	.;DLGP5_HUMAN	Q	207	ENSP00000378815:R207Q;ENSP00000247191:R207Q;ENSP00000451747:R207Q	ENSP00000247191:R207Q	R	-	2	0	DLGAP5	54717210	0.944000	0.32072	0.979000	0.43373	0.973000	0.67179	1.966000	0.40481	1.340000	0.45581	0.655000	0.94253	CGA	DLGAP5	-	NULL	ENSG00000126787		0.433	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2		0.00	65	0	C	NM_014750		55647457	-1			no_errors	ENST00000247191	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.999	T
DNAJB7	150353	genome.wustl.edu	37	22	41257666	41257666	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:41257666G>T	ENST00000307221.4	-	1	464	c.333C>A	c.(331-333)ttC>ttA	p.F111L	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	111							chaperone binding (GO:0051087)	p.F111L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						AGTCTTCAAAGAAGTGAAAAG	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											80.0	86.0	84.0					22																	41257666		2201	4300	6501	SO:0001583	missense	0			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.333C>A	22.37:g.41257666G>T	ENSP00000307197:p.Phe111Leu		Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.F111L	ENST00000307221.4	37	c.333	CCDS14008.1	22	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545603	0.27652	.	.	ENSG00000172404	ENST00000307221	T	0.79033	-1.23	4.56	1.32	0.21799	.	0.097739	0.43260	N	0.000591	T	0.65749	0.2721	L	0.41710	1.295	0.80722	D	1	B	0.20671	0.047	B	0.23419	0.046	T	0.59016	-0.7533	10	0.54805	T	0.06	.	6.7416	0.23439	0.2926:0.0:0.7074:0.0	.	111	Q7Z6W7	DNJB7_HUMAN	L	111	ENSP00000307197:F111L	ENSP00000307197:F111L	F	-	3	2	DNAJB7	39587612	1.000000	0.71417	0.999000	0.59377	0.604000	0.37047	1.089000	0.30890	0.414000	0.25790	0.491000	0.48974	TTC	DNAJB7	-	superfamily_ConA-like_lec_gl_sf	ENSG00000172404		0.388	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB7	HGNC	protein_coding	OTTHUMT00000321765.1		0.00	38	0	G	NM_145174		41257666	-1			no_errors	ENST00000307221	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
DOPEY1	23033	genome.wustl.edu	37	6	83830443	83830443	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:83830443G>T	ENST00000349129.2	+	10	1292	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E335D|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E335D	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	344					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGGAGAAGAGAACACTCTAA	0.358																																																	0													134.0	127.0	130.0					6																	83830443		2203	4300	6503	SO:0001583	missense	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1032G>T	6.37:g.83830443G>T	ENSP00000195654:p.Glu344Asp		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.E344D	ENST00000349129.2	37	c.1032	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005634	0.74932	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.26067	1.76;1.78;1.77	5.74	1.37	0.22104	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	M	0.65498	2.005	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.995	D;D;D	0.81914	0.995;0.97;0.978	T	0.04593	-1.0940	10	0.34782	T	0.22	.	9.3475	0.38118	0.4456:0.0:0.5543:0.0	.	241;335;344	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	D	344;335;335	ENSP00000195654:E344D;ENSP00000237163:E335D;ENSP00000358754:E335D	ENSP00000237163:E335D	E	+	3	2	DOPEY1	83887162	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.873000	0.28052	0.337000	0.23665	0.557000	0.71058	GAG	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.358	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2		0.00	81	0	G	NM_015018		83830443	+1			no_errors	ENST00000349129	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.998	T
EFNB1	1947	genome.wustl.edu	37	X	68060496	68060496	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:68060496G>A	ENST00000204961.4	+	5	1820	c.1040G>A	c.(1039-1041)tGa>tAa	p.*347*		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	0					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TACAAGGTCTGAGTGCCCGGC	0.657																																																	0													20.0	18.0	19.0					X																	68060496		2202	4299	6501	SO:0001819	synonymous_variant	0			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.1040G>A	X.37:g.68060496G>A			D3DVU0	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.*347	ENST00000204961.4	37	c.1040	CCDS14391.1	X																																																																																			EFNB1	-	NULL	ENSG00000090776		0.657	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB1	HGNC	protein_coding	OTTHUMT00000057029.1		0.00	38	0	G	NM_004429		68060496	+1			no_errors	ENST00000204961	ensembl	human	known	74_37	silent	34.38	21	11	SNP	1.000	A
ELANE	1991	genome.wustl.edu	37	19	855780	855780	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:855780G>A	ENST00000590230.1	+	5	724	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	ELANE_ENST00000263621.1_Missense_Mutation_p.A195T			P08246	ELNE_HUMAN	elastase, neutrophil expressed	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		Missing (in SCN1 and CH). {ECO:0000269|PubMed:11675333}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCCGGCAGGCCGGCGTCTG	0.677																																																	0													35.0	36.0	36.0					19																	855780		2203	4297	6500	SO:0001583	missense	0				CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.583G>A	19.37:g.855780G>A	ENSP00000466090:p.Ala195Thr		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A195T	ENST00000590230.1	37	c.583	CCDS12045.1	19	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433761	0.43224	.	.	ENSG00000197561	ENST00000263621	D	0.88896	-2.44	4.46	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.526159	0.14250	U	0.331523	D	0.88134	0.6355	N	0.11427	0.14	0.25817	N	0.984327	D	0.89917	1.0	D	0.87578	0.998	T	0.80661	-0.1283	10	0.42905	T	0.14	.	12.9545	0.58418	0.0:0.0:1.0:0.0	.	195	P08246	ELNE_HUMAN	T	195	ENSP00000263621:A195T	ENSP00000263621:A195T	A	+	1	0	ELANE	806780	0.814000	0.29104	0.247000	0.24249	0.040000	0.13550	3.424000	0.52764	2.198000	0.70561	0.462000	0.41574	GCC	ELANE	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000197561		0.677	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELANE	HGNC	protein_coding	OTTHUMT00000457890.2		0.00	50	0	G	NM_001972		855780	+1			no_errors	ENST00000263621	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.380	A
RP11-71N10.1	0	genome.wustl.edu	37	3	147657860	147657860	+	lincRNA	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr3:147657860C>T	ENST00000467198.1	+	0	70																											AGGCAGACAGCGAAAACCATT	0.493																																																	0																																												0																															3.37:g.147657860C>T				RNA	SNP	-	NULL	ENST00000467198.1	37	NULL		3																																																																																			RP11-71N10.1	-	-	ENSG00000239922		0.493	RP11-71N10.1-001	KNOWN	basic	lincRNA	ENSG00000239922	Clone_based_vega_gene	lincRNA	OTTHUMT00000355799.1		0.00	42	0	C			147657860	+1			no_errors	ENST00000467198	ensembl	human	known	74_37	rna	13.64	38	6	SNP	0.000	T
EP400	57634	genome.wustl.edu	37	12	132446460	132446460	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:132446460G>T	ENST00000333577.4	+	2	1405	c.1296G>T	c.(1294-1296)gaG>gaT	p.E432D	EP400_ENST00000389561.2_Missense_Mutation_p.E432D|EP400_ENST00000332482.4_Missense_Mutation_p.E432D|EP400_ENST00000330386.6_Missense_Mutation_p.E432D|EP400_ENST00000389562.2_Missense_Mutation_p.E432D			Q96L91	EP400_HUMAN	E1A binding protein p400	432	Poly-Glu.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aggaggaggaggaagaggagg	0.383																																																	0													53.0	52.0	52.0					12																	132446460		2203	4300	6503	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1296G>T	12.37:g.132446460G>T	ENSP00000333602:p.Glu432Asp		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E432D	ENST00000333577.4	37	c.1296		12	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753032	0.15778	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90620	-2.64;-2.63;-2.64;-2.7;-2.64	3.78	-1.47	0.08772	.	0.054062	0.64402	N	0.000001	T	0.80182	0.4576	N	0.22421	0.69	0.24394	N	0.994735	B;B;B;B;B	0.15141	0.004;0.004;0.004;0.006;0.012	B;B;B;B;B	0.19148	0.007;0.007;0.007;0.024;0.018	T	0.68428	-0.5411	10	0.59425	D	0.04	.	6.4714	0.22009	0.376:0.1177:0.5062:0.0	.	432;432;432;432;432	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	D	432	ENSP00000333602:E432D;ENSP00000374212:E432D;ENSP00000374213:E432D;ENSP00000331737:E432D;ENSP00000330620:E432D	ENSP00000330620:E432D	E	+	3	2	EP400	131012413	0.975000	0.34042	0.887000	0.34795	0.900000	0.52787	-0.103000	0.10940	-0.295000	0.08960	0.561000	0.74099	GAG	EP400	-	NULL	ENSG00000183495		0.383	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0.00	30	0	G	NM_015409		132446460	+1			no_errors	ENST00000333577	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.957	T
ERBB2	2064	genome.wustl.edu	37	17	37865579	37865579	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:37865579A>G	ENST00000269571.5	+	4	607	c.448A>G	c.(448-450)Aaa>Gaa	p.K150E	ERBB2_ENST00000541774.1_Missense_Mutation_p.K135E|ERBB2_ENST00000540042.1_Missense_Mutation_p.K120E|ERBB2_ENST00000578199.1_Missense_Mutation_p.K120E|ERBB2_ENST00000584601.1_Missense_Mutation_p.K120E|ERBB2_ENST00000406381.2_Missense_Mutation_p.K120E|ERBB2_ENST00000540147.1_Missense_Mutation_p.K120E|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584450.1_Missense_Mutation_p.K150E			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	150					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AGAGATCTTGAAAGGAGGGGT	0.547		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													136.0	128.0	131.0					17																	37865579		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.448A>G	17.37:g.37865579A>G	ENSP00000269571:p.Lys150Glu		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K150E	ENST00000269571.5	37	c.448	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413988	0.42817	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.51	5.51	0.81932	EGF receptor, L domain (1);	.	.	.	.	D	0.82356	0.5019	L	0.41356	1.27	0.35175	D	0.771973	D;D;P;P	0.67145	0.996;0.991;0.861;0.573	P;P;P;B	0.60286	0.872;0.784;0.652;0.126	T	0.82273	-0.0539	9	0.16420	T	0.52	.	15.4527	0.75285	1.0:0.0:0.0:0.0	.	120;135;150;150	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	E	120;135;150;120;120	ENSP00000385185:K120E;ENSP00000446466:K135E;ENSP00000269571:K150E;ENSP00000443562:K120E;ENSP00000446382:K120E	ENSP00000269571:K150E	K	+	1	0	ERBB2	35119105	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.747000	0.38298	2.317000	0.78254	0.459000	0.35465	AAA	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000141736		0.547	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2		0.00	24	0	A			37865579	+1			no_errors	ENST00000269571	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	G
ERCC4	2072	genome.wustl.edu	37	16	14014129	14014129	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:14014129C>A	ENST00000311895.7	+	1	116	c.107C>A	c.(106-108)gCc>gAc	p.A36D	ERCC4_ENST00000575156.1_Missense_Mutation_p.A36D	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	36	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GTAGTGTGCGCCCGCGGGCTC	0.682			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													28.0	29.0	28.0					16																	14014129		2196	4299	6495	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.107C>A	16.37:g.14014129C>A	ENSP00000310520:p.Ala36Asp		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.A36D	ENST00000311895.7	37	c.107	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.274081	0.95459	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.67171	-0.25	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	M	0.89968	3.075	0.80722	D	1	D;D	0.63046	0.98;0.992	P;D	0.63703	0.837;0.917	D	0.87197	0.2238	10	0.87932	D	0	-21.4739	17.6735	0.88224	0.0:1.0:0.0:0.0	.	36;36	A5PKV6;Q92889	.;XPF_HUMAN	D	36;25;25	ENSP00000310520:A36D	ENSP00000310520:A36D	A	+	2	0	ERCC4	13921630	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	6.584000	0.74057	2.826000	0.97356	0.655000	0.94253	GCC	ERCC4	-	NULL	ENSG00000175595		0.682	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2		0.00	66	0	C	NM_005236		14014129	+1			no_errors	ENST00000311895	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A
EXOSC5	56915	genome.wustl.edu	37	19	41898857	41898857	+	Silent	SNP	G	G	A	rs148206160		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:41898857G>A	ENST00000221233.4	-	2	327	c.177C>T	c.(175-177)taC>taT	p.Y59Y	BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	59					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CGGCCGGCCCGTACACACCCG	0.607																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	74.0	57.0	63.0		177	-3.1	1.0	19	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	EXOSC5	NM_020158.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		59/236	41898857	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.177C>T	19.37:g.41898857G>A			Q32Q81|Q8NG16|Q96I89	Silent	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.Y59	ENST00000221233.4	37	c.177	CCDS12580.1	19																																																																																			EXOSC5	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000077348		0.607	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC5	HGNC	protein_coding	OTTHUMT00000463492.1		0.00	33	0	G	NM_020158		41898857	-1			no_errors	ENST00000221233	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.960	A
EYA3	2140	genome.wustl.edu	37	1	28319962	28319962	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:28319962G>T	ENST00000373871.3	-	14	1492	c.1252C>A	c.(1252-1254)Cgc>Agc	p.R418S	EYA3_ENST00000540618.1_Missense_Mutation_p.R372S|EYA3_ENST00000436342.2_Missense_Mutation_p.R292S|EYA3_ENST00000545175.1_Missense_Mutation_p.R365S|EYA3_ENST00000373863.3_Missense_Mutation_p.R372S|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.R261S	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	418					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TTCCGGTAGCGGAAAGCTAGT	0.473																																																	0													144.0	136.0	139.0					1																	28319962		2203	4300	6503	SO:0001583	missense	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1252C>A	1.37:g.28319962G>T	ENSP00000362978:p.Arg418Ser		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.R418S	ENST00000373871.3	37	c.1252	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446634	0.84101	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.6	5.6	0.85130	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91689	0.5364	10	0.87932	D	0	-18.5502	19.6033	0.95572	0.0:0.0:1.0:0.0	.	372;372;418	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	S	418;292;261;372;365;372	ENSP00000362978:R418S;ENSP00000405587:R292S;ENSP00000362971:R261S;ENSP00000442558:R372S;ENSP00000442280:R365S;ENSP00000362970:R372S	ENSP00000362970:R372S	R	-	1	0	EYA3	28192549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.320000	0.72876	2.643000	0.89663	0.555000	0.69702	CGC	EYA3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000158161		0.473	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1		0.00	36	0	G	NM_001990		28319962	-1			no_errors	ENST00000373871	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
FANCB	2187	genome.wustl.edu	37	X	14862007	14862007	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:14862007G>C	ENST00000324138.3	-	9	2415	c.2262C>G	c.(2260-2262)ttC>ttG	p.F754L	FANCB_ENST00000398334.1_Missense_Mutation_p.F754L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	754					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TATCAATTAGGAAATTCTCAC	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													75.0	73.0	74.0					X																	14862007		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2262C>G	X.37:g.14862007G>C	ENSP00000326819:p.Phe754Leu		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	NULL	p.F754L	ENST00000324138.3	37	c.2262	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	G	0.762	-0.769001	0.02974	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.6	2.85	0.33270	.	0.756841	0.13152	N	0.409779	T	0.24236	0.0587	L	0.53249	1.67	0.09310	N	1	P	0.37207	0.587	B	0.34180	0.177	T	0.15954	-1.0419	9	0.11485	T	0.65	-0.7611	1.5782	0.02629	0.2197:0.1163:0.4728:0.1912	.	754	Q8NB91	FANCB_HUMAN	L	754	.	ENSP00000326819:F754L	F	-	3	2	FANCB	14771928	0.042000	0.20092	0.016000	0.15963	0.155000	0.21991	0.426000	0.21363	0.170000	0.19704	0.594000	0.82650	TTC	FANCB	-	NULL	ENSG00000181544		0.348	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1		0.00	62	0	G	NM_152633		14862007	-1			no_errors	ENST00000324138	ensembl	human	known	74_37	missense	33.33	30	15	SNP	0.017	C
FAT3	120114	genome.wustl.edu	37	11	92577542	92577542	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:92577542G>A	ENST00000298047.6	+	18	11026	c.11009G>A	c.(11008-11010)cGg>cAg	p.R3670Q	FAT3_ENST00000409404.2_Missense_Mutation_p.R3670Q|FAT3_ENST00000533797.1_Missense_Mutation_p.R5Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R3520Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3670					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATGGGTTCCGGCGCACCCTG	0.582										TCGA Ovarian(4;0.039)																																							0													47.0	50.0	49.0					11																	92577542		2156	4261	6417	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11009G>A	11.37:g.92577542G>A	ENSP00000298047:p.Arg3670Gln		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3670Q	ENST00000298047.6	37	c.11009		11	.	.	.	.	.	.	.	.	.	.	G	9.645	1.140000	0.21205	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.84873	3.08;3.08;3.08;-1.91	5.83	5.83	0.93111	.	.	.	.	.	D	0.83092	0.5179	N	0.16656	0.425	0.80722	D	1	D;B	0.63880	0.993;0.015	P;B	0.52267	0.694;0.003	T	0.82782	-0.0287	9	0.36615	T	0.2	.	20.1237	0.97972	0.0:0.0:1.0:0.0	.	3670;3670	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	3670;3670;3520;5	ENSP00000298047:R3670Q;ENSP00000387040:R3670Q;ENSP00000432586:R3520Q;ENSP00000436399:R5Q	ENSP00000298047:R3670Q	R	+	2	0	FAT3	92217190	1.000000	0.71417	0.992000	0.48379	0.419000	0.31324	4.466000	0.60148	2.759000	0.94783	0.561000	0.74099	CGG	FAT3	-	NULL	ENSG00000165323		0.582	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding			0.00	38	0	G	NM_001008781		92577542	+1			no_errors	ENST00000298047	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	A
FBLL1	345630	genome.wustl.edu	37	5	167956929	167956929	+	Silent	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:167956929C>T	ENST00000338333.4	+	1	809	c.420C>T	c.(418-420)ggC>ggT	p.G140G				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	140					rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)										TGACCGAGGGCGGCGTGAAGC	0.672																																																	0													9.0	8.0	9.0					5																	167956929		869	1974	2843	SO:0001819	synonymous_variant	0					5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.420C>T	5.37:g.167956929C>T				Silent	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.G140	ENST00000338333.4	37	c.420		5																																																																																			FBLL1	-	pfam_Fibrillarin,pirsf_Fibrillarin	ENSG00000188573		0.672	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	FBLL1	HGNC	protein_coding	OTTHUMT00000347089.3		0.00	34	0	C	NR_024356		167956929	+1			no_errors	ENST00000338333	ensembl	human	putative	74_37	silent	16.00	21	4	SNP	0.996	T
FBXL12	54850	genome.wustl.edu	37	19	9921708	9921708	+	Missense_Mutation	SNP	G	G	T	rs138792854	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:9921708G>T	ENST00000247977.4	-	3	1086	c.845C>A	c.(844-846)cCc>cAc	p.P282H	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.P229H|FBXL12_ENST00000585379.1_Missense_Mutation_p.P229H|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	282					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TCTGAGCTTGGGCATAGTGAG	0.627																																																	0													33.0	34.0	34.0					19																	9921708		2203	4299	6502	SO:0001583	missense	0			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.845C>A	19.37:g.9921708G>T	ENSP00000247977:p.Pro282His		B3KSJ8|Q9H5K4	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.P282H	ENST00000247977.4	37	c.845	CCDS12218.1	19	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673569	0.67928	.	.	ENSG00000127452	ENST00000247977	T	0.21031	2.03	4.51	4.51	0.55191	.	0.081262	0.49916	D	0.000129	T	0.28896	0.0717	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02138	-1.1207	9	.	.	.	.	12.9418	0.58350	0.0:0.0:1.0:0.0	.	282	Q9NXK8	FXL12_HUMAN	H	282	ENSP00000247977:P282H	.	P	-	2	0	FBXL12	9782708	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	4.998000	0.63927	2.509000	0.84616	0.563000	0.77884	CCC	FBXL12	-	NULL	ENSG00000127452		0.627	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL12	HGNC	protein_coding	OTTHUMT00000450265.1		0.00	71	0	G	NM_017703		9921708	-1			no_errors	ENST00000247977	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
FBXL12	54850	genome.wustl.edu	37	19	9922195	9922195	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:9922195T>C	ENST00000247977.4	-	3	599	c.358A>G	c.(358-360)Acc>Gcc	p.T120A	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.T67A|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.T67A|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	120					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGCAGGCTGGTGATGGGCACC	0.662																																																	0													80.0	87.0	85.0					19																	9922195		2203	4300	6503	SO:0001583	missense	0			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.358A>G	19.37:g.9922195T>C	ENSP00000247977:p.Thr120Ala		B3KSJ8|Q9H5K4	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.T120A	ENST00000247977.4	37	c.358	CCDS12218.1	19	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192426	0.21954	.	.	ENSG00000127452	ENST00000247977	T	0.16073	2.37	4.76	1.37	0.22104	.	0.571176	0.19201	N	0.120192	T	0.04679	0.0127	N	0.03608	-0.345	0.80722	D	1	B	0.29627	0.252	B	0.18561	0.022	T	0.38628	-0.9652	9	.	.	.	.	2.6083	0.04884	0.2131:0.2178:0.0:0.5691	.	120	Q9NXK8	FXL12_HUMAN	A	120	ENSP00000247977:T120A	.	T	-	1	0	FBXL12	9783195	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	0.456000	0.21859	0.357000	0.24183	0.533000	0.62120	ACC	FBXL12	-	NULL	ENSG00000127452		0.662	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL12	HGNC	protein_coding	OTTHUMT00000450265.1		0.00	50	0	T	NM_017703		9922195	-1			no_errors	ENST00000247977	ensembl	human	known	74_37	missense	33.33	38	19	SNP	0.990	C
FKBP6	8468	genome.wustl.edu	37	7	72745765	72745765	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:72745765G>A	ENST00000252037.4	+	5	643	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	FKBP6_ENST00000413573.2_Missense_Mutation_p.V162M|FKBP6_ENST00000431982.2_Missense_Mutation_p.V187M	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	192					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGATGCCAAAGTGAGATATAA	0.388																																																	0													96.0	93.0	94.0					7																	72745765		1863	4097	5960	SO:0001583	missense	0			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.574G>A	7.37:g.72745765G>A	ENSP00000252037:p.Val192Met		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Splice_Site	SNP	-	e5+1	ENST00000252037.4	37	c.573+1	CCDS43595.1	7	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420880	0.62622	.	.	ENSG00000077800	ENST00000431982;ENST00000413573;ENST00000252037	T;T;T	0.74106	-0.81;-0.81;-0.81	5.4	4.5	0.54988	Tetratricopeptide-like helical (1);	0.450841	0.24513	N	0.037876	T	0.67126	0.2860	L	0.39898	1.24	0.32074	N	0.594041	B;B;B	0.14012	0.009;0.001;0.005	B;B;B	0.15052	0.012;0.005;0.005	T	0.69383	-0.5160	10	0.49607	T	0.09	-9.4	14.4504	0.67382	0.0:0.0:0.8518:0.1482	.	187;192;162	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	M	187;162;192	ENSP00000416277:V187M;ENSP00000394952:V162M;ENSP00000252037:V192M	ENSP00000252037:V192M	V	+	1	0	FKBP6	72383701	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.298000	0.59067	1.239000	0.43787	0.655000	0.94253	GTG	FKBP6	-	-	ENSG00000077800		0.388	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP6	HGNC	protein_coding	OTTHUMT00000318723.1		0.00	50	0	G	NM_003602		72745765	+1			no_errors	ENST00000429879	ensembl	human	known	74_37	splice_site	7.69	48	4	SNP	1.000	A
FNDC1	84624	genome.wustl.edu	37	6	159660605	159660605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:159660605C>T	ENST00000297267.9	+	14	4437	c.4237C>T	c.(4237-4239)Cga>Tga	p.R1413*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.R1350*|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1413					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGGCAGGGGCGACATGGCAC	0.527																																																	0													26.0	33.0	31.0					6																	159660605		1894	4113	6007	SO:0001587	stop_gained	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4237C>T	6.37:g.159660605C>T	ENSP00000297267:p.Arg1413*		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R1413*	ENST00000297267.9	37	c.4237	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.983569|10.983569	0.99499|0.99499	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|.	.|.	.|.	5.11|5.11	0.218|0.218	0.15270|0.15270	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.14570|.	0.0352|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26189|.	-1.0110|.	3|.	.|0.02654	.|T	.|1	-14.7285|-14.7285	14.916|14.916	0.70798|0.70798	0.7782:0.2218:0.0:0.0|0.7782:0.2218:0.0:0.0	.|.	.|.	.|.	.|.	V|X	1308|1413;1350	.|.	.|ENSP00000297267:R1413X	A|R	+|+	2|1	0|2	FNDC1|FNDC1	159580595|159580595	1.000000|1.000000	0.71417|0.71417	0.518000|0.518000	0.27811|0.27811	0.994000|0.994000	0.84299|0.84299	1.367000|1.367000	0.34204|0.34204	0.204000|0.204000	0.20548|0.20548	-0.182000|-0.182000	0.12963|0.12963	GCG|CGA	FNDC1	-	NULL	ENSG00000164694		0.527	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3		0.00	69	0	C	NM_032532		159660605	+1			no_errors	ENST00000297267	ensembl	human	known	74_37	nonsense	35.82	43	24	SNP	0.814	T
FOCAD	54914	genome.wustl.edu	37	9	20944647	20944647	+	Silent	SNP	T	T	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:20944647T>C	ENST00000380249.1	+	31	3793	c.3429T>C	c.(3427-3429)gtT>gtC	p.V1143V	FOCAD_ENST00000605086.1_Silent_p.V579V|FOCAD_ENST00000338382.6_Silent_p.V1143V	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1143						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TATTGGGAGTTGGACTTGTTC	0.493																																																	0													138.0	119.0	126.0					9																	20944647		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3429T>C	9.37:g.20944647T>C			D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.V1143	ENST00000380249.1	37	c.3429	CCDS34993.1	9																																																																																			FOCAD	-	superfamily_ARM-type_fold	ENSG00000188352		0.493	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1		0.00	41	0	T	NM_017794		20944647	+1			no_errors	ENST00000338382	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	C
FTMT	94033	genome.wustl.edu	37	5	121188111	121188111	+	Silent	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:121188111C>T	ENST00000321339.1	+	1	462	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	151	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGAACAGGACGACTGGGAAA	0.582																																																	1	Substitution - coding silent(1)	large_intestine(1)											89.0	88.0	88.0					5																	121188111		2203	4300	6503	SO:0001819	synonymous_variant	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.453C>T	5.37:g.121188111C>T				Silent	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.D151	ENST00000321339.1	37	c.453	CCDS4128.1	5																																																																																			FTMT	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000181867		0.582	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1		0.00	31	0	C	NM_177478		121188111	+1			no_errors	ENST00000321339	ensembl	human	known	74_37	silent	43.33	17	13	SNP	0.303	T
FUBP3	8939	genome.wustl.edu	37	9	133510070	133510070	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:133510070G>A	ENST00000319725.9	+	17	1602	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	509					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGAGCCAGCCGCAGAGCAGCC	0.627																																																	0													38.0	49.0	45.0					9																	133510070		2041	4194	6235	SO:0001819	synonymous_variant	0			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1527G>A	9.37:g.133510070G>A			A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.P509	ENST00000319725.9	37	c.1527	CCDS43893.1	9																																																																																			FUBP3	-	NULL	ENSG00000107164		0.627	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1		0.00	37	0	G			133510070	+1			no_errors	ENST00000319725	ensembl	human	known	74_37	silent	37.93	18	11	SNP	1.000	A
GIGYF2	26058	genome.wustl.edu	37	2	233655987	233655987	+	Silent	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:233655987C>A	ENST00000409547.1	+	14	1424	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P	GIGYF2_ENST00000409451.3_Silent_p.P392P|GIGYF2_ENST00000452341.2_Silent_p.P202P|GIGYF2_ENST00000409196.3_Silent_p.P365P|GIGYF2_ENST00000373563.4_Silent_p.P371P|GIGYF2_ENST00000373566.3_Silent_p.P393P|GIGYF2_ENST00000409480.1_Silent_p.P393P	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	371					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGGAAACTCCCCAGACCTCAT	0.433																																																	0													108.0	104.0	105.0					2																	233655987		2203	4300	6503	SO:0001819	synonymous_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1113C>A	2.37:g.233655987C>A			A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.P393	ENST00000409547.1	37	c.1179	CCDS33401.1	2																																																																																			GIGYF2	-	NULL	ENSG00000204120		0.433	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2		0.00	45	0	C	NM_001103146		233655987	+1			no_errors	ENST00000373566	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.000	A
GLI3	2737	genome.wustl.edu	37	7	42006013	42006013	+	Silent	SNP	C	C	T	rs375355919		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:42006013C>T	ENST00000395925.3	-	15	2742	c.2658G>A	c.(2656-2658)ccG>ccA	p.P886P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	886					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCACGTTCTGCGGCCGGCCCT	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													22.0	25.0	24.0					7																	42006013		2199	4297	6496	SO:0001819	synonymous_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2658G>A	7.37:g.42006013C>T			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P886	ENST00000395925.3	37	c.2658	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3		0.00	30	0	C	NM_000168		42006013	-1			no_errors	ENST00000395925	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.998	T
GPRC6A	222545	genome.wustl.edu	37	6	117128060	117128060	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:117128060G>T	ENST00000310357.3	-	3	829	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	GPRC6A_ENST00000368549.3_Missense_Mutation_p.Q270K|GPRC6A_ENST00000530250.1_Missense_Mutation_p.Q270K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	270					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACATTAACCTGGGCTTCTAAA	0.363																																																	0													80.0	85.0	83.0					6																	117128060		2203	4299	6502	SO:0001583	missense	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.808C>A	6.37:g.117128060G>T	ENSP00000309493:p.Gln270Lys		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.Q270K	ENST00000310357.3	37	c.808	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	1.021	-0.684959	0.03328	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	T;T;D	0.85411	-1.44;-1.44;-1.98	6.17	3.2	0.36748	Extracellular ligand-binding receptor (1);	0.475365	0.17778	N	0.162360	T	0.47192	0.1432	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.26708	0.0;0.157;0.0	B;B;B	0.30179	0.002;0.112;0.004	T	0.49244	-0.8960	10	0.46703	T	0.11	.	10.5234	0.44934	0.0:0.1048:0.3371:0.5581	.	270;270;270	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	K	270	ENSP00000309493:Q270K;ENSP00000357537:Q270K;ENSP00000433465:Q270K	ENSP00000309493:Q270K	Q	-	1	0	GPRC6A	117234753	0.513000	0.26194	0.985000	0.45067	0.988000	0.76386	3.218000	0.51192	0.864000	0.35578	0.655000	0.94253	CAG	GPRC6A	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000173612		0.363	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2		0.00	69	0	G			117128060	-1			no_errors	ENST00000310357	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.170	T
GPT	2875	genome.wustl.edu	37	8	145732324	145732324	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:145732324C>T	ENST00000528431.1	+	12	1589	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	GPT_ENST00000394955.2_Missense_Mutation_p.R478W|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	478					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GGAGAAACTGCGGCTGCTGCT	0.632																																																	0													71.0	66.0	68.0					8																	145732324		2203	4300	6503	SO:0001583	missense	0				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1432C>T	8.37:g.145732324C>T	ENSP00000433586:p.Arg478Trp		B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R478W	ENST00000528431.1	37	c.1432	CCDS6430.1	8	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611676	0.66558	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.91124	-2.79;-2.79	4.68	2.52	0.30459	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.123114	0.50627	D	0.000109	D	0.91399	0.7286	L	0.41492	1.28	0.36704	D	0.880285	D	0.76494	0.999	D	0.66979	0.948	D	0.92471	0.5985	10	0.87932	D	0	-35.9045	10.8248	0.46625	0.44:0.56:0.0:0.0	.	478	P24298	ALAT1_HUMAN	W	478	ENSP00000433586:R478W;ENSP00000378408:R478W	ENSP00000378408:R478W	R	+	1	2	GPT	145703132	0.979000	0.34478	0.972000	0.41901	0.939000	0.58152	0.413000	0.21148	0.891000	0.36235	0.561000	0.74099	CGG	GPT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000167701		0.632	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1		0.00	49	0	C			145732324	+1			no_errors	ENST00000394955	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.991	T
GRIK4	2900	genome.wustl.edu	37	11	120856618	120856618	+	Silent	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:120856618C>T	ENST00000527524.2	+	21	2807	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	GRIK4_ENST00000438375.2_Silent_p.S840S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	840					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCCAGGTGTCCGTCTGCCAGG	0.711																																																	0													5.0	3.0	4.0					11																	120856618		1814	3604	5418	SO:0001819	synonymous_variant	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2520C>T	11.37:g.120856618C>T			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S840	ENST00000527524.2	37	c.2520	CCDS8433.1	11																																																																																			GRIK4	-	NULL	ENSG00000149403		0.711	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4		0.00	18	0	C	NM_014619		120856618	+1			no_errors	ENST00000527524	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.922	T
GRIK5	2901	genome.wustl.edu	37	19	42509909	42509909	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:42509909G>A	ENST00000262895.3	-	16	2228	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	GRIK5_ENST00000301218.4_Silent_p.L743L|GRIK5_ENST00000593562.1_Silent_p.L743L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	743					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CCTTGGTGTCGAGGAGTCCCC	0.637																																																	0													102.0	70.0	81.0					19																	42509909		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2229C>T	19.37:g.42509909G>A			Q8WWG8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L743	ENST00000262895.3	37	c.2229	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233468	0.22626	.	.	ENSG00000105737	ENST00000454993	.	.	.	5.23	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7648	0.13127	0.2588:0.2474:0.4938:0.0	.	.	.	.	X	120	.	.	R	-	1	2	GRIK5	47201749	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.845000	0.27668	0.613000	0.30089	-0.222000	0.12452	CGA	GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000105737		0.637	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1		0.00	53	0	G			42509909	-1			no_errors	ENST00000301218	ensembl	human	known	74_37	silent	53.85	18	21	SNP	1.000	A
GRM8	2918	genome.wustl.edu	37	7	126544654	126544654	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:126544654C>G	ENST00000339582.2	-	4	1619	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	GRM8_ENST00000444921.2_Missense_Mutation_p.E271Q|GRM8_ENST00000405249.1_Missense_Mutation_p.E271Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E271Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	271					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTAGGTGTTTCTAGCAGGCGT	0.403										HNSCC(24;0.065)																																							0													110.0	104.0	106.0					7																	126544654		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.811G>C	7.37:g.126544654C>G	ENSP00000344173:p.Glu271Gln		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.E271Q	ENST00000339582.2	37	c.811	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240630	0.58995	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	N	0.21324	0.655	0.80722	D	1	B;B	0.32573	0.376;0.137	B;B	0.30401	0.084;0.115	T	0.69522	-0.5123	10	0.10902	T	0.67	.	17.8349	0.88693	0.0:1.0:0.0:0.0	.	271;271	O00222-2;O00222	.;GRM8_HUMAN	Q	271	ENSP00000344173:E271Q;ENSP00000409790:E271Q;ENSP00000351142:E271Q;ENSP00000385731:E271Q;ENSP00000415522:E271Q	ENSP00000344173:E271Q	E	-	1	0	GRM8	126331890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.750000	0.85110	2.445000	0.82738	0.557000	0.71058	GAA	GRM8	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt	ENSG00000179603		0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0.00	74	0	C			126544654	-1			no_errors	ENST00000339582	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	G
GSDMD	79792	genome.wustl.edu	37	8	144642814	144642814	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:144642814G>A	ENST00000526406.1	+	7	1335	c.452G>A	c.(451-453)cGc>cAc	p.R151H	GSDMD_ENST00000533063.1_Missense_Mutation_p.R199H|GSDMD_ENST00000262580.4_Missense_Mutation_p.R151H	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	151					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGCAGCTGCGCAGCCGCGGG	0.657																																																	0													25.0	20.0	22.0					8																	144642814		2178	4285	6463	SO:0001583	missense	0			AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.452G>A	8.37:g.144642814G>A	ENSP00000433209:p.Arg151His		D3DWJ9|Q96Q98	Missense_Mutation	SNP	pfam_Gasdermin	p.R151H	ENST00000526406.1	37	c.452	CCDS34956.1	8	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027088	0.35797	.	.	ENSG00000104518	ENST00000526406;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000534018;ENST00000533888	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	4.42	3.55	0.40652	.	0.253950	0.26963	N	0.021601	T	0.50548	0.1622	M	0.76170	2.325	0.09310	N	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	P;D;D;D	0.81914	0.879;0.995;0.995;0.992	T	0.34079	-0.9843	10	0.62326	D	0.03	-62.8027	8.3422	0.32249	0.1051:0.0:0.8949:0.0	.	392;151;151;199	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	H	151;151;199;151;167;151	ENSP00000433209:R151H;ENSP00000434386:R151H;ENSP00000433958:R199H;ENSP00000262580:R151H;ENSP00000436684:R167H;ENSP00000437065:R151H	ENSP00000262580:R151H	R	+	2	0	GSDMD	144713957	0.104000	0.21937	0.016000	0.15963	0.003000	0.03518	2.091000	0.41691	1.467000	0.48044	0.643000	0.83706	CGC	GSDMD	-	pfam_Gasdermin	ENSG00000104518		0.657	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GSDMD	HGNC	protein_coding	OTTHUMT00000382046.3		0.00	12	0	G	NM_024736		144642814	+1			no_errors	ENST00000262580	ensembl	human	known	74_37	missense	46.15	7	6	SNP	0.015	A
GZMA	3001	genome.wustl.edu	37	5	54405875	54405875	+	Silent	SNP	C	C	T	rs374569624		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:54405875C>T	ENST00000274306.6	+	5	689	c.654C>T	c.(652-654)tgC>tgT	p.C218C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	218	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.C218C(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTTTGTTGTGCGAGGGTGTTT	0.488																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)						C		0,4406		0,0,2203	96.0	93.0	94.0		654	-3.9	0.0	5		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GZMA	NM_006144.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		218/263	54405875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.654C>T	5.37:g.54405875C>T			A4PHN1|Q6IB36	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C218	ENST00000274306.6	37	c.654	CCDS3965.1	5																																																																																			GZMA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000145649		0.488	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMA	HGNC	protein_coding	OTTHUMT00000214100.2		0.00	77	0	C	NM_006144		54405875	+1			no_errors	ENST00000274306	ensembl	human	known	74_37	silent	20.59	54	14	SNP	0.014	T
HDAC9	9734	genome.wustl.edu	37	7	18674282	18674282	+	Missense_Mutation	SNP	G	G	T	rs374343180		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:18674282G>T	ENST00000432645.2	+	7	820	c.820G>T	c.(820-822)Ggt>Tgt	p.G274C	HDAC9_ENST00000428307.2_Missense_Mutation_p.G230C|HDAC9_ENST00000524023.1_Missense_Mutation_p.G197C|HDAC9_ENST00000417496.2_Missense_Mutation_p.G272C|HDAC9_ENST00000441542.2_Missense_Mutation_p.G277C|HDAC9_ENST00000405010.3_Missense_Mutation_p.G274C|HDAC9_ENST00000456174.2_Missense_Mutation_p.G246C|HDAC9_ENST00000406072.1_Missense_Mutation_p.G261C|HDAC9_ENST00000401921.1_Missense_Mutation_p.G233C|HDAC9_ENST00000406451.4_Missense_Mutation_p.G274C	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	274	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCCAGGCTCTGGTCCCAGTTC	0.423																																																	0								G	CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY	0,3774		0,0,1887	74.0	73.0	73.0		814,688,697,589,736,820,820,820,829	5.5	1.0	7		73	1,8203		0,1,4101	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	HDAC9	NM_001204144.1,NM_001204145.1,NM_001204146.1,NM_001204147.1,NM_001204148.1,NM_014707.1,NM_058176.2,NM_178423.1,NM_178425.2	159,159,159,159,159,159,159,159,159	0,1,5988	TT,TG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	272/589,230/547,233/550,197/514,246/563,274/591,274/1012,274/1067,277/1070	18674282	1,11977	1887	4102	5989	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.820G>T	7.37:g.18674282G>T	ENSP00000410337:p.Gly274Cys		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.G277C	ENST00000432645.2	37	c.829	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614536	0.87359	0.0	1.22E-4	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.70516	-0.24;0.25;-0.18;-0.22;-0.25;-0.49;-0.18;-0.16;0.23;-0.21	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000022	D	0.86301	0.5900	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0;1.0;1.0	D	0.86588	0.1858	10	0.48119	T	0.1	-25.9073	19.415	0.94690	0.0:0.0:1.0:0.0	.	197;246;274;261;272;274;277;233;277;274;246;274;274;252	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	C	272;275;274;274;230;261;233;274;277;246;197;274	ENSP00000401669:G272C;ENSP00000384382:G274C;ENSP00000384657:G274C;ENSP00000395655:G230C;ENSP00000384017:G261C;ENSP00000383912:G233C;ENSP00000410337:G274C;ENSP00000408617:G277C;ENSP00000388568:G246C;ENSP00000430036:G197C	ENSP00000262069:G275C	G	+	1	0	HDAC9	18640807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.600000	0.87896	0.650000	0.86243	GGT	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1		0.00	79	0	G			18674282	+1			no_errors	ENST00000441542	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
HECW1	23072	genome.wustl.edu	37	7	43506045	43506045	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:43506045G>T	ENST00000395891.2	+	15	3396		c.e15-1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTTTTTTCAGATCTAAGGAG	0.478																																																	0													99.0	92.0	94.0					7																	43506045		1936	4141	6077	SO:0001630	splice_region_variant	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2792-1G>T	7.37:g.43506045G>T			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Splice_Site	SNP	-	e13-1	ENST00000395891.2	37	c.2792-1	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160153	0.78226	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECW1	43472570	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.277000	0.72608	2.744000	0.94065	0.655000	0.94253	.	HECW1	-	-	ENSG00000002746		0.478	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2		0.00	35	0	G	NM_015052	Intron	43506045	+1			no_errors	ENST00000395891	ensembl	human	known	74_37	splice_site	24.39	31	10	SNP	1.000	T
HNRNPK	3190	genome.wustl.edu	37	9	86587852	86587852	+	Nonsense_Mutation	SNP	G	G	T	rs563593756	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:86587852G>T	ENST00000376264.2	-	10	810	c.552C>A	c.(550-552)tgC>tgA	p.C184*	HNRNPK_ENST00000360384.5_Nonsense_Mutation_p.C184*|HNRNPK_ENST00000376263.3_Nonsense_Mutation_p.C184*|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Nonsense_Mutation_p.C184*|HNRNPK_ENST00000376281.4_Nonsense_Mutation_p.C184*	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	184	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AATGAGGACAGCATTCCTGGA	0.363																																																	0													54.0	55.0	55.0					9																	86587852		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.552C>A	9.37:g.86587852G>T	ENSP00000365440:p.Cys184*		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.C184*	ENST00000376264.2	37	c.552	CCDS6667.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.170181	0.94768	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	.	.	.	5.13	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8556	10.27	0.43477	0.1826:0.0:0.8174:0.0	.	.	.	.	X	184;184;184;184;184;149;184;179;160;115	.	ENSP00000317788:C184X	C	-	3	2	HNRNPK	85777672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.001000	0.29783	1.039000	0.40074	0.655000	0.94253	TGC	HNRNPK	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000165119		0.363	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2		0.00	78	0	G			86587852	-1			no_errors	ENST00000376263	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	T
COX20	116228	genome.wustl.edu	37	1	245008478	245008478	+	IGR	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:245008478G>T	ENST00000411948.2	+	0	2631				HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU-AS1_ENST00000475997.1_RNA	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											gacatggagggctgacGTGTA	0.403																																																	0																																										SO:0001628	intergenic_variant	0			BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401		1.37:g.245008478G>T			Q8WV86	RNA	SNP	-	NULL	ENST00000411948.2	37	NULL	CCDS31080.1	1																																																																																			HNRNPU-AS1	-	-	ENSG00000188206		0.403	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPU-AS1	HGNC	protein_coding	OTTHUMT00000097174.1		0.00	15	0	G	NM_198076		245008478	-1			no_errors	ENST00000475997	ensembl	human	known	74_37	rna	12.00	22	3	SNP	0.003	T
HS3ST5	222537	genome.wustl.edu	37	6	114379236	114379236	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:114379236C>T	ENST00000312719.5	-	5	1414	c.226G>A	c.(226-228)Gct>Act	p.A76T	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.A76T|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	76					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCTTGGAAGCGTTGCCCTTC	0.592																																																	0													59.0	54.0	56.0					6																	114379236		2203	4300	6503	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.226G>A	6.37:g.114379236C>T	ENSP00000427888:p.Ala76Thr		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A76T	ENST00000312719.5	37	c.226	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296924	0.23650	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.44881	0.91;0.91	5.62	-4.29	0.03721	.	0.524304	0.21855	N	0.068109	T	0.05731	0.0150	N	0.24115	0.695	0.32728	N	0.509388	B	0.06786	0.001	B	0.04013	0.001	T	0.30851	-0.9964	10	0.07325	T	0.83	.	4.8497	0.13531	0.3912:0.3721:0.0:0.2367	.	76	Q8IZT8	HS3S5_HUMAN	T	76	ENSP00000427888:A76T;ENSP00000440332:A76T	ENSP00000427888:A76T	A	-	1	0	HS3ST5	114485929	0.608000	0.26966	0.614000	0.29051	0.986000	0.74619	0.266000	0.18534	-1.168000	0.02776	0.655000	0.94253	GCT	HS3ST5	-	superfamily_P-loop_NTPase	ENSG00000249853		0.592	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2		0.00	26	0	C	NM_153612		114379236	-1			no_errors	ENST00000312719	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.996	T
HSPB2	3316	genome.wustl.edu	37	11	111784266	111784266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:111784266G>T	ENST00000304298.3	+	2	784	c.196G>T	c.(196-198)Gag>Tag	p.E66*	CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000533971.1_5'Flank|HSPB2_ENST00000537382.1_Nonsense_Mutation_p.E66*|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533475.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000525823.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	66					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)	p.E66K(1)		large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		AGGGGCCTCCGAGCTTAGGCT	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											92.0	95.0	94.0					11																	111784266		2201	4297	6498	SO:0001587	stop_gained	0			U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.196G>T	11.37:g.111784266G>T	ENSP00000302476:p.Glu66*		Q6I9U7	Nonsense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.E66*	ENST00000304298.3	37	c.196	CCDS8352.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946306	0.92593	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	.	.	.	4.84	4.84	0.62591	.	0.220264	0.38548	N	0.001651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.2361	18.4921	0.90852	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000302476:E66X	E	+	1	0	HSPB2	111289476	1.000000	0.71417	0.959000	0.39883	0.985000	0.73830	5.482000	0.66833	2.688000	0.91661	0.650000	0.86243	GAG	HSPB2	-	superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	ENSG00000170276		0.617	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB2	Uniprot_gn	protein_coding	OTTHUMT00000391669.1		0.00	26	0	G			111784266	+1			no_errors	ENST00000304298	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.987	T
IQGAP2	10788	genome.wustl.edu	37	5	75970313	75970313	+	Silent	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:75970313C>T	ENST00000274364.6	+	27	3603	c.3306C>T	c.(3304-3306)aaC>aaT	p.N1102N	IQGAP2_ENST00000379730.3_Silent_p.N604N|IQGAP2_ENST00000502745.1_Silent_p.N598N|IQGAP2_ENST00000396234.3_Silent_p.N598N	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1102	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTGTTGGAAACCTCCTGTACT	0.378																																																	0													71.0	63.0	66.0					5																	75970313		2203	4300	6503	SO:0001819	synonymous_variant	0			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3306C>T	5.37:g.75970313C>T			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.N1102	ENST00000274364.6	37	c.3306	CCDS34188.1	5																																																																																			IQGAP2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145703		0.378	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1		0.00	39	0	C	NM_006633		75970313	+1			no_errors	ENST00000274364	ensembl	human	known	74_37	silent	10.00	35	4	SNP	1.000	T
JPH2	57158	genome.wustl.edu	37	20	42788954	42788954	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:42788954G>A	ENST00000372980.3	-	2	1345	c.473C>T	c.(472-474)cCg>cTg	p.P158L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	158					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTGCGCAGCGGCGAGCGCAC	0.731																																																	0													13.0	6.0	8.0					20																	42788954		2056	4024	6080	SO:0001583	missense	0			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.473C>T	20.37:g.42788954G>A	ENSP00000362071:p.Pro158Leu		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.P158L	ENST00000372980.3	37	c.473	CCDS13325.1	20	.	.	.	.	.	.	.	.	.	.	g	19.85	3.903822	0.72754	.	.	ENSG00000149596	ENST00000372980	T	0.63096	-0.02	3.34	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.61874	0.2382	M	0.82323	2.585	0.80722	D	1	P	0.52692	0.955	B	0.37198	0.243	T	0.74019	-0.3799	10	0.59425	D	0.04	.	14.8586	0.70362	0.0:0.0:1.0:0.0	.	158	Q9BR39	JPH2_HUMAN	L	158	ENSP00000362071:P158L	ENSP00000362071:P158L	P	-	2	0	JPH2	42222368	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.016000	0.93645	1.700000	0.51204	0.306000	0.20318	CCG	JPH2	-	pirsf_Junctophilin	ENSG00000149596		0.731	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1		0.00	24	0	G			42788954	-1			no_errors	ENST00000372980	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	A
KCNN4	3783	genome.wustl.edu	37	19	44273604	44273604	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:44273604C>T	ENST00000262888.3	-	6	1434	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	347	Calmodulin-binding.				calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.A347T(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GCGTTGATGGCGGCCAGCAGC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											73.0	67.0	69.0					19																	44273604		2203	4300	6503	SO:0001583	missense	0			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.1039G>A	19.37:g.44273604C>T	ENSP00000262888:p.Ala347Thr		Q53XR4	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom	p.A347T	ENST00000262888.3	37	c.1039	CCDS12630.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.394349	0.96009	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	D	0.99886	-7.52	5.23	5.23	0.72850	Calmodulin-binding domain (2);	0.113604	0.64402	D	0.000015	D	0.99880	0.9943	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96218	0.9158	10	0.87932	D	0	-17.5868	16.6654	0.85252	0.0:1.0:0.0:0.0	.	347	O15554	KCNN4_HUMAN	T	347;215	ENSP00000262888:A347T	ENSP00000262888:A347T	A	-	1	0	KCNN4	48965444	0.999000	0.42202	0.992000	0.48379	0.969000	0.65631	4.254000	0.58798	2.612000	0.88384	0.655000	0.94253	GCC	KCNN4	-	pfam_CaM-bd_dom,superfamily_CaM-bd_dom	ENSG00000104783		0.587	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNN4	HGNC	protein_coding	OTTHUMT00000463598.1		0.00	24	0	C	NM_002250		44273604	-1			no_errors	ENST00000262888	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.999	T
KIAA0753	9851	genome.wustl.edu	37	17	6538418	6538418	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:6538418delT	ENST00000361413.3	-	2	364	c.6delA	c.(4-6)ggafs	p.G2fs	KIAA0753_ENST00000572370.1_Intron|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	2						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCTGGCCTGGTCCCATAATGT	0.473																																																	0													89.0	85.0	87.0					17																	6538418		1998	4167	6165	SO:0001589	frameshift_variant	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.6delA	17.37:g.6538418delT	ENSP00000355250:p.Gly2fs		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Frame_Shift_Del	DEL	NULL	p.P3fs	ENST00000361413.3	37	c.6	CCDS42247.1	17																																																																																			KIAA0753	-	NULL	ENSG00000198920		0.473	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3		0.00	67	0	T	NM_014804		6538418	-1			no_errors	ENST00000361413	ensembl	human	known	74_37	frame_shift_del	11.94	59	8	DEL	0.965	0
KIAA1217	56243	genome.wustl.edu	37	10	24835061	24835061	+	Silent	SNP	G	G	T	rs570245552		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:24835061G>T	ENST00000376454.3	+	21	5670	c.5640G>T	c.(5638-5640)ccG>ccT	p.P1880P	KIAA1217_ENST00000376462.1_Silent_p.P1201P|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Silent_p.P1286P|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Silent_p.P1311P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1880	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.P1880P(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CATTCTCACCGCAGAGTCAAA	0.527																																																	1	Substitution - coding silent(1)	large_intestine(1)											158.0	135.0	143.0					10																	24835061		2203	4300	6503	SO:0001819	synonymous_variant	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5640G>T	10.37:g.24835061G>T			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	pfam_AIP3_C	p.P1880	ENST00000376454.3	37	c.5640	CCDS31165.1	10																																																																																			KIAA1217	-	NULL	ENSG00000120549		0.527	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2		0.00	65	0	G	NM_019590		24835061	+1			no_errors	ENST00000376454	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.945	T
KIAA1919	91749	genome.wustl.edu	37	6	111583554	111583554	+	Missense_Mutation	SNP	G	G	A	rs200995803		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:111583554G>A	ENST00000368847.4	+	2	475	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	41					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGTGGGTCGTGCCTTGGGA	0.383																																																	0													371.0	349.0	357.0					6																	111583554		2203	4300	6503	SO:0001583	missense	0			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.122G>A	6.37:g.111583554G>A	ENSP00000357840:p.Arg41His		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R41H	ENST00000368847.4	37	c.122	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.535304	0.96460	.	.	ENSG00000173214	ENST00000368847	T	0.57436	0.4	6.04	6.04	0.98038	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73414	-0.3990	10	0.66056	D	0.02	-13.4087	20.1743	0.98175	0.0:0.0:1.0:0.0	.	41	Q5TF39	NAGT1_HUMAN	H	41	ENSP00000357840:R41H	ENSP00000357840:R41H	R	+	2	0	KIAA1919	111690247	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.546000	0.90661	2.873000	0.98535	0.561000	0.74099	CGT	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000173214		0.383	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1		0.00	51	0	G	NM_153369		111583554	+1			no_errors	ENST00000368847	ensembl	human	known	74_37	missense	56.04	40	51	SNP	1.000	A
KRT23	25984	genome.wustl.edu	37	17	39092743	39092743	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:39092743G>A	ENST00000209718.3	-	2	537	c.113C>T	c.(112-114)gCg>gTg	p.A38V	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000582283.1_5'Flank	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	38	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGCTCCCCCCGCACCGCCATG	0.697																																																	0													26.0	32.0	30.0					17																	39092743		2202	4299	6501	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.113C>T	17.37:g.39092743G>A	ENSP00000209718:p.Ala38Val		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.A38V	ENST00000209718.3	37	c.113	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973453	0.53614	.	.	ENSG00000108244	ENST00000209718	D	0.83506	-1.73	5.73	5.73	0.89815	.	0.112704	0.39687	N	0.001293	D	0.83617	0.5293	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.60117	0.869	D	0.84583	0.0662	10	0.51188	T	0.08	.	16.1711	0.81817	0.0:0.1332:0.8668:0.0	.	38	Q9C075	K1C23_HUMAN	V	38	ENSP00000209718:A38V	ENSP00000209718:A38V	A	-	2	0	KRT23	36346269	0.841000	0.29509	0.430000	0.26722	0.045000	0.14185	3.792000	0.55476	2.707000	0.92482	0.557000	0.71058	GCG	KRT23	-	NULL	ENSG00000108244		0.697	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0.00	19	0	G			39092743	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.983	A
KRT79	338785	genome.wustl.edu	37	12	53218041	53218041	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:53218041G>T	ENST00000330553.5	-	5	995	c.961C>A	c.(961-963)Cag>Aag	p.Q321K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	321	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCTCATACTGGGCCTTGACC	0.612																																																	0													105.0	91.0	95.0					12																	53218041		2203	4300	6503	SO:0001583	missense	0			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.961C>A	12.37:g.53218041G>T	ENSP00000328358:p.Gln321Lys		Q6P465|Q7Z793	Missense_Mutation	SNP	pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II	p.Q321K	ENST00000330553.5	37	c.961	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145816	0.57044	.	.	ENSG00000185640	ENST00000330553	T	0.76316	-1.01	3.86	3.86	0.44501	Filament (1);	0.155313	0.30193	N	0.010198	D	0.88548	0.6466	H	0.95470	3.675	0.47308	D	0.999382	P	0.43024	0.798	P	0.50590	0.645	D	0.92146	0.5724	10	0.87932	D	0	.	15.5745	0.76365	0.0:0.0:1.0:0.0	.	321	Q5XKE5	K2C79_HUMAN	K	321	ENSP00000328358:Q321K	ENSP00000328358:Q321K	Q	-	1	0	KRT79	51504308	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	6.480000	0.73604	2.434000	0.82447	0.561000	0.74099	CAG	KRT79	-	pfam_IF	ENSG00000185640		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	HGNC	protein_coding	OTTHUMT00000406376.1		0.00	72	0	G	NM_175834		53218041	-1			no_errors	ENST00000330553	ensembl	human	known	74_37	missense	54.76	19	23	SNP	1.000	T
LINC00668	400643	genome.wustl.edu	37	18	6928533	6928533	+	lincRNA	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr18:6928533G>T	ENST00000580197.1	-	0	38									long intergenic non-protein coding RNA 668																		tggccaagtagaaagcccatt	0.502																																																	0																																												0					18p11.31	2012-10-12			ENSG00000265933	ENSG00000265933		"""Long non-coding RNAs"""	44328	non-coding RNA	RNA, long non-coding							Standard	NR_034100		Approved		uc002kni.1		OTTHUMG00000178875		18.37:g.6928533G>T				RNA	SNP	-	NULL	ENST00000580197.1	37	NULL		18																																																																																			LINC00668	-	-	ENSG00000265933		0.502	LINC00668-003	KNOWN	basic	lincRNA	LINC00668	HGNC	lincRNA	OTTHUMT00000443724.1		0.00	25	0	G	NR_034100		6928533	-1			no_errors	ENST00000579012	ensembl	human	known	74_37	rna	25.00	9	3	SNP	0.055	T
LRP1B	53353	genome.wustl.edu	37	2	141459770	141459770	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:141459770C>A	ENST00000389484.3	-	39	7213	c.6242G>T	c.(6241-6243)gGa>gTa	p.G2081V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2081					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATTGCTTCCTGACAGCAC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													198.0	172.0	181.0					2																	141459770		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6242G>T	2.37:g.141459770C>A	ENSP00000374135:p.Gly2081Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G2081V	ENST00000389484.3	37	c.6242	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098289	0.56183	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.5	5.5	0.81552	Six-bladed beta-propeller, TolB-like (1);	0.248535	0.31872	U	0.006925	D	0.89139	0.6630	L	0.53561	1.675	0.54753	D	0.999984	B	0.24721	0.11	B	0.16722	0.016	D	0.85848	0.1402	10	0.52906	T	0.07	.	19.388	0.94565	0.0:1.0:0.0:0.0	.	2081	Q9NZR2	LRP1B_HUMAN	V	2081;2019	ENSP00000374135:G2081V	ENSP00000374135:G2081V	G	-	2	0	LRP1B	141176240	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.076000	0.41548	2.586000	0.87340	0.563000	0.77884	GGA	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0.00	12	0	C	NM_018557		141459770	-1			no_errors	ENST00000389484	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A
LRRTM3	347731	genome.wustl.edu	37	10	68857466	68857466	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:68857466C>T	ENST00000361320.4	+	3	2236	c.1658C>T	c.(1657-1659)aCg>aTg	p.T553M	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	553					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGGAAGATACGATGGAAACA	0.468																																																	0													169.0	146.0	153.0					10																	68857466		2203	4300	6503	SO:0001583	missense	0			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1658C>T	10.37:g.68857466C>T	ENSP00000355187:p.Thr553Met		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.T553M	ENST00000361320.4	37	c.1658	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784750	0.31593	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.74842	-0.88	5.92	5.02	0.67125	.	0.133465	0.34484	N	0.003921	T	0.47358	0.1441	N	0.08118	0	0.32405	N	0.551396	P	0.42584	0.784	B	0.15484	0.013	T	0.63871	-0.6539	10	0.66056	D	0.02	.	12.4432	0.55637	0.0:0.9217:0.0:0.0783	.	553	Q86VH5	LRRT3_HUMAN	M	553	ENSP00000355187:T553M	ENSP00000355187:T553M	T	+	2	0	LRRTM3	68527472	0.940000	0.31905	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	1.528000	0.49103	0.650000	0.86243	ACG	LRRTM3	-	NULL	ENSG00000198739		0.468	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2		0.00	43	0	C	NM_178011		68857466	+1			no_errors	ENST00000361320	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
MAGEC2	51438	genome.wustl.edu	37	X	141290892	141290892	+	Silent	SNP	A	A	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chrX:141290892A>C	ENST00000247452.3	-	3	1229	c.882T>G	c.(880-882)ccT>ccG	p.P294P		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	294	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CATAATATGGAGGAGAACTGT	0.498										HNSCC(46;0.14)																																							0													82.0	83.0	83.0					X																	141290892		2203	4300	6503	SO:0001819	synonymous_variant	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.882T>G	X.37:g.141290892A>C			Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P294	ENST00000247452.3	37	c.882	CCDS14678.1	X																																																																																			MAGEC2	-	pfam_MAGE,pfscan_MAGE	ENSG00000046774		0.498	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1		0.00	49	0	A	NM_016249		141290892	-1			no_errors	ENST00000247452	ensembl	human	known	74_37	silent	42.11	22	16	SNP	0.022	C
MAP4	4134	genome.wustl.edu	37	3	47932648	47932648	+	Intron	SNP	A	A	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr3:47932648A>G	ENST00000360240.6	-	9	2518				MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000441748.2_5'UTR|MAP4_ENST00000426837.2_Intron|MAP4_ENST00000264724.11_Intron|MAP4_ENST00000420772.2_Missense_Mutation_p.I445T	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GCATGAATCAATTCTAGTTTC	0.488																																																	0																																										SO:0001627	intron_variant	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2000-13635T>C	3.37:g.47932648A>G			Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt	p.I445T	ENST00000360240.6	37	c.1334	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	A	6.624	0.483590	0.12581	.	.	ENSG00000047849	ENST00000420772;ENST00000335271	T;T	0.17054	2.33;2.3	6.0	0.124	0.14714	.	.	.	.	.	T	0.06600	0.0169	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41124	-0.9526	8	0.13853	T	0.58	.	1.2354	0.01952	0.4071:0.2932:0.1491:0.1505	.	445;445	F8W9U4;P27816-3	.;.	T	445;60	ENSP00000409731:I445T;ENSP00000334770:I60T	ENSP00000334770:I60T	I	-	2	0	MAP4	47907652	0.000000	0.05858	0.023000	0.16930	0.755000	0.42902	0.200000	0.17257	0.279000	0.22186	0.533000	0.62120	ATT	MAP4	-	NULL	ENSG00000047849		0.488	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1		0.00	48	0	A	NM_002375		47932648	-1			no_errors	ENST00000420772	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.000	G
MGAT5	4249	genome.wustl.edu	37	2	135206251	135206251	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:135206251G>A	ENST00000409645.1	+	17	2311	c.2059G>A	c.(2059-2061)Gcc>Acc	p.A687T	MGAT5_ENST00000281923.2_Missense_Mutation_p.A687T			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	687					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CTCAGAGCTGGCCAAGGACAT	0.557																																																	0													212.0	206.0	208.0					2																	135206251		2203	4300	6503	SO:0001583	missense	0			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2059G>A	2.37:g.135206251G>A	ENSP00000386377:p.Ala687Thr		D3DP70	Missense_Mutation	SNP	NULL	p.A687T	ENST00000409645.1	37	c.2059	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510601	0.27036	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.09	4.18	0.49190	.	0.251585	0.46442	D	0.000292	T	0.47078	0.1426	L	0.40543	1.245	0.42845	D	0.994068	B	0.28291	0.206	B	0.25291	0.059	T	0.37526	-0.9702	9	0.20519	T	0.43	-4.8993	14.7381	0.69430	0.0:0.0:0.8495:0.1504	.	687	Q09328	MGT5A_HUMAN	T	687	.	ENSP00000281923:A687T	A	+	1	0	MGAT5	134922721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.551000	0.53698	1.215000	0.43411	0.655000	0.94253	GCC	MGAT5	-	NULL	ENSG00000152127		0.557	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3		0.00	46	0	G	NM_002410		135206251	+1			no_errors	ENST00000281923	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	A
MPP5	64398	genome.wustl.edu	37	14	67787832	67787832	+	Silent	SNP	G	G	A	rs573524479	byFrequency	TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:67787832G>A	ENST00000261681.4	+	13	2257	c.1596G>A	c.(1594-1596)tcG>tcA	p.S532S	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Silent_p.S498S	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	532	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ACTTTGTTTCGCGGCAAGCAT	0.443													G|||	7	0.00139776	0.0	0.0	5008	,	,		18179	0.0		0.0	False		,,,				2504	0.0072																0													139.0	130.0	133.0					14																	67787832		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1596G>A	14.37:g.67787832G>A			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.S532	ENST00000261681.4	37	c.1596	CCDS9779.1	14																																																																																			MPP5	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000072415		0.443	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1		0.00	64	0	G	NM_022474		67787832	+1			no_errors	ENST00000261681	ensembl	human	known	74_37	silent	22.78	61	18	SNP	0.964	A
MRPL19	9801	genome.wustl.edu	37	2	75882395	75882395	+	Missense_Mutation	SNP	C	C	A	rs377063877		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:75882395C>A	ENST00000393909.2	+	6	888	c.863C>A	c.(862-864)gCg>gAg	p.A288E	MRPL19_ENST00000409374.1_Missense_Mutation_p.A288E|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	288					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						GAAATTGAAGCGTCGAAAAGG	0.338																																																	0													70.0	65.0	67.0					2																	75882395		1835	4079	5914	SO:0001583	missense	0			AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.863C>A	2.37:g.75882395C>A	ENSP00000377486:p.Ala288Glu		Q53TX9|Q96Q52	Missense_Mutation	SNP	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19	p.A288E	ENST00000393909.2	37	c.863	CCDS1960.2	2	.	.	.	.	.	.	.	.	.	.	C	8.956	0.969427	0.18659	.	.	ENSG00000115364	ENST00000393909;ENST00000409374;ENST00000453233	.	.	.	5.12	5.12	0.69794	.	0.158220	0.56097	D	0.000036	T	0.38746	0.1052	N	0.16130	0.375	0.80722	D	1	B	0.21753	0.06	B	0.18263	0.021	T	0.22661	-1.0210	9	0.14656	T	0.56	-21.2886	14.4358	0.67279	0.0:1.0:0.0:0.0	.	288	P49406	RM19_HUMAN	E	288;288;75	.	ENSP00000377486:A288E	A	+	2	0	MRPL19	75735903	0.885000	0.30320	0.980000	0.43619	0.063000	0.16089	0.848000	0.27710	2.549000	0.85964	0.655000	0.94253	GCG	MRPL19	-	NULL	ENSG00000115364		0.338	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL19	HGNC	protein_coding	OTTHUMT00000252256.1		0.00	55	0	C	NM_014763		75882395	+1			no_errors	ENST00000393909	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.982	A
MROH2A	339766	genome.wustl.edu	37	2	234698539	234698539	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:234698539G>A	ENST00000389758.3	+	5	616	c.450G>A	c.(448-450)ctG>ctA	p.L150L	MROH2A_ENST00000480634.2_Intron			A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	180																	GCGACACACTGGTGGCTCTGT	0.562																																																	0																																										SO:0001819	synonymous_variant	0				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.450G>A	2.37:g.234698539G>A				Silent	SNP	superfamily_ARM-type_fold	p.L150	ENST00000389758.3	37	c.450		2																																																																																			MROH2A	-	superfamily_ARM-type_fold	ENSG00000185038		0.562	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	MROH2A	HGNC	protein_coding	OTTHUMT00000130646.6		0.00	16	0	G	XM_291007		234698539	+1			no_errors	ENST00000389758	ensembl	human	novel	74_37	silent	39.13	14	9	SNP	0.998	A
MRPS18A	55168	genome.wustl.edu	37	6	43642962	43642962	+	Silent	SNP	C	C	A	rs571547048		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:43642962C>A	ENST00000372133.3	-	5	434	c.423G>T	c.(421-423)ccG>ccT	p.P141P	MRPS18A_ENST00000372116.1_Intron	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	141					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.P141P(1)		kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			GTTTGCTCTTCGGAACAACTC	0.552																																																	1	Substitution - coding silent(1)	large_intestine(1)											139.0	132.0	134.0					6																	43642962		2203	4300	6503	SO:0001819	synonymous_variant	0			AB049952	CCDS4906.1, CCDS55006.1	6p21.3	2012-09-13			ENSG00000096080	ENSG00000096080		"""Mitochondrial ribosomal proteins / small subunits"""	14515	protein-coding gene	gene with protein product		611981				11279123, 11543634	Standard	NM_018135		Approved	FLJ10548, MRPS18-3	uc003ovy.2	Q9NVS2	OTTHUMG00000014750	ENST00000372133.3:c.423G>T	6.37:g.43642962C>A			A6XND3|Q5QPA4	Silent	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.P141	ENST00000372133.3	37	c.423	CCDS4906.1	6																																																																																			MRPS18A	-	NULL	ENSG00000096080		0.552	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18A	HGNC	protein_coding	OTTHUMT00000040697.1		0.00	70	0	C	NM_018135		43642962	-1			no_errors	ENST00000372133	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.730	A
MST1L	11223	genome.wustl.edu	37	1	17083485	17083485	+	RNA	SNP	A	A	G	rs371742490		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:17083485A>G	ENST00000455405.2	-	0	1103							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										acttgtattgataaggcaaaa	0.373																																																	0																																												0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083485A>G			B7WPB1|Q13209	RNA	SNP	-	NULL	ENST00000455405.2	37	NULL		1																																																																																			MST1L	-	-	ENSG00000186715		0.373	MST1L-002	KNOWN	basic	processed_transcript	MST1L	HGNC	pseudogene	OTTHUMT00000400328.1		0.00	11	0	A	NM_001271733		17083485	-1			no_errors	ENST00000455405	ensembl	human	known	74_37	rna	25.00	6	2	SNP	0.000	G
MT1A	4489	genome.wustl.edu	37	16	56669815	56669815	+	5'Flank	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:56669815G>A	ENST00000290705.8	+	0	0				MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CAGTACTGAGGGTCTCTGGGT	0.552																																																	0																																										SO:0001631	upstream_gene_variant	0			BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731			16.37:g.56669815G>A	Exception_encountered		Q86YX5	RNA	SNP	-	NULL	ENST00000290705.8	37	NULL	CCDS32454.1	16																																																																																			MT1JP	-	-	ENSG00000255986		0.552	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1JP	HGNC	protein_coding	OTTHUMT00000434324.1		0.00	36	0	G	NM_005946		56669815	+1			no_errors	ENST00000564564	ensembl	human	known	74_37	rna	36.67	19	11	SNP	0.000	A
MTMR6	9107	genome.wustl.edu	37	13	25848273	25848273	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr13:25848273G>A	ENST00000381801.5	-	2	838	c.77C>T	c.(76-78)aCa>aTa	p.T26I	MTMR6_ENST00000540661.1_Missense_Mutation_p.T26I	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	26					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CAGTGTTCCTGTTAATGACTT	0.328																																																	0													122.0	117.0	119.0					13																	25848273		2203	4300	6503	SO:0001583	missense	0			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.77C>T	13.37:g.25848273G>A	ENSP00000371221:p.Thr26Ile		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.T26I	ENST00000381801.5	37	c.77	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	G	7.910	0.736279	0.15574	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.82081	-1.57;-1.57	5.17	5.17	0.71159	Pleckstrin homology-type (1);	0.220528	0.44688	D	0.000427	T	0.73636	0.3612	L	0.31294	0.92	0.49213	D	0.999761	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.68379	-0.5424	10	0.36615	T	0.2	.	12.4001	0.55407	0.0774:0.0:0.9226:0.0	.	26;26	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	I	26	ENSP00000443161:T26I;ENSP00000371221:T26I	ENSP00000371221:T26I	T	-	2	0	MTMR6	24746273	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	4.104000	0.57790	2.565000	0.86533	0.591000	0.81541	ACA	MTMR6	-	NULL	ENSG00000139505		0.328	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1		0.00	57	0	G	NM_004685		25848273	-1			no_errors	ENST00000381801	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.997	A
MTMR9	66036	genome.wustl.edu	37	8	11177336	11177336	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:11177336C>A	ENST00000221086.3	+	9	1948	c.1475C>A	c.(1474-1476)cCa>cAa	p.P492Q	MTMR9_ENST00000526292.1_Missense_Mutation_p.P407Q|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	492	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CAGAGTCTTCCACTGTGGGAA	0.502																																																	0													106.0	94.0	98.0					8																	11177336		2203	4300	6503	SO:0001583	missense	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1475C>A	8.37:g.11177336C>A	ENSP00000221086:p.Pro492Gln		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom	p.P492Q	ENST00000221086.3	37	c.1475	CCDS5979.1	8	.	.	.	.	.	.	.	.	.	.	C	4.497	0.092269	0.08632	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.89681	-2.55;-2.55	4.38	1.91	0.25777	Myotubularin phosphatase domain (1);	0.317428	0.35970	N	0.002874	T	0.50343	0.1610	N	0.00027	-2.65	0.27318	N	0.957131	B	0.02656	0.0	B	0.01281	0.0	T	0.60281	-0.7294	10	0.10377	T	0.69	.	6.9933	0.24767	0.668:0.1949:0.0:0.1371	.	492	Q96QG7	MTMR9_HUMAN	Q	492;407	ENSP00000221086:P492Q;ENSP00000433239:P407Q	ENSP00000221086:P492Q	P	+	2	0	MTMR9	11214746	1.000000	0.71417	0.934000	0.37439	0.240000	0.25518	3.660000	0.54496	0.249000	0.21456	-1.283000	0.01379	CCA	MTMR9	-	NULL	ENSG00000104643		0.502	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2		0.00	71	0	C	NM_015458		11177336	+1			no_errors	ENST00000221086	ensembl	human	known	74_37	missense	8.00	69	6	SNP	1.000	A
MTUS1	57509	genome.wustl.edu	37	8	17601255	17601255	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:17601255G>T	ENST00000262102.6	-	3	2369	c.2145C>A	c.(2143-2145)gaC>gaA	p.D715E	MTUS1_ENST00000519263.1_Missense_Mutation_p.D715E|MTUS1_ENST00000381869.3_Missense_Mutation_p.D715E|MTUS1_ENST00000381862.3_Missense_Mutation_p.D715E	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	715					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AACCGCAGGAGTCAGGCTTGG	0.453																																																	0													91.0	90.0	91.0					8																	17601255		1871	4102	5973	SO:0001583	missense	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2145C>A	8.37:g.17601255G>T	ENSP00000262102:p.Asp715Glu		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.D715E	ENST00000262102.6	37	c.2145	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941091	0.34283	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.38401	3.04;1.14;3.04;2.06	4.76	3.88	0.44766	.	0.517494	0.18265	N	0.146499	T	0.27384	0.0672	L	0.27053	0.805	0.09310	N	1	P;P;P	0.46142	0.827;0.827;0.873	B;B;B	0.44133	0.442;0.359;0.306	T	0.07849	-1.0751	10	0.54805	T	0.06	-8.0399	7.7967	0.29152	0.1883:0.0:0.8117:0.0	.	715;715;715	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	E	715	ENSP00000371293:D715E;ENSP00000262102:D715E;ENSP00000430167:D715E;ENSP00000371286:D715E	ENSP00000262102:D715E	D	-	3	2	MTUS1	17645535	0.025000	0.19082	0.020000	0.16555	0.564000	0.35744	0.848000	0.27710	1.336000	0.45506	0.655000	0.94253	GAC	MTUS1	-	NULL	ENSG00000129422		0.453	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1		0.00	38	0	G	XM_372031		17601255	-1			no_errors	ENST00000262102	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.004	T
MYO16	23026	genome.wustl.edu	37	13	109540766	109540766	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr13:109540766A>G	ENST00000357550.2	+	13	1575	c.1534A>G	c.(1534-1536)Aga>Gga	p.R512G	MYO16_ENST00000457511.2_Missense_Mutation_p.R24G|MYO16_ENST00000251041.5_Missense_Mutation_p.R512G|MYO16_ENST00000356711.2_Missense_Mutation_p.R512G	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACAAATCATAAGACACCTCAC	0.433																																																	0													82.0	88.0	86.0					13																	109540766		2203	4300	6503	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1534A>G	13.37:g.109540766A>G	ENSP00000350160:p.Arg512Gly			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R512G	ENST00000357550.2	37	c.1534	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	A	14.04	2.418187	0.42918	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67	5.18	2.62	0.31277	Myosin head, motor domain (3);	0.325538	0.21534	U	0.073009	D	0.93893	0.8046	M	0.75884	2.315	0.28214	N	0.926817	P;P;P	0.48998	0.622;0.469;0.918	B;B;P	0.46685	0.295;0.221;0.524	D	0.88311	0.2956	9	.	.	.	.	10.6499	0.45642	0.705:0.295:0.0:0.0	.	24;512;512	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	G	512;512;512;512;300;24	ENSP00000349145:R512G;ENSP00000350160:R512G;ENSP00000251041:R512G;ENSP00000401633:R24G	.	R	+	1	2	MYO16	108338767	1.000000	0.71417	0.022000	0.16811	0.274000	0.26718	2.791000	0.47829	0.341000	0.23771	0.533000	0.62120	AGA	MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000041515		0.433	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1		0.00	62	0	A	NM_015011		109540766	+1			no_errors	ENST00000356711	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.986	G
MYO7A	4647	genome.wustl.edu	37	11	76893003	76893003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:76893003G>T	ENST00000409709.3	+	24	3183	c.2911G>T	c.(2911-2913)Gag>Tag	p.E971*	MYO7A_ENST00000409893.1_Nonsense_Mutation_p.E971*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.E960*|MYO7A_ENST00000458637.2_Nonsense_Mutation_p.E971*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	971					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAGGACCTGGAGCGAGGGCG	0.587																																																	0													49.0	58.0	55.0					11																	76893003		2085	4201	6286	SO:0001587	stop_gained	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2911G>T	11.37:g.76893003G>T	ENSP00000386331:p.Glu971*		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E971*	ENST00000409709.3	37	c.2911	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	.	36	5.720392	0.96839	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.6347	0.91372	0.0:0.0:1.0:0.0	.	.	.	.	X	971;971;971;960;182;970;970;847;970;152	.	ENSP00000345075:E847X	E	+	1	0	MYO7A	76570651	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.396000	0.97270	2.396000	0.81511	0.549000	0.68633	GAG	MYO7A	-	NULL	ENSG00000137474		0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1		0.00	55	0	G	NM_000260		76893003	+1			no_errors	ENST00000409709	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	T
NDUFAF7	55471	genome.wustl.edu	37	2	37464913	37464913	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:37464913G>T	ENST00000002125.4	+	4	351	c.311G>T	c.(310-312)tGg>tTg	p.W104L	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.W77L|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	104					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										CTAGGTATATGGTTCATTAGT	0.378																																																	0													46.0	53.0	51.0					2																	37464913		2203	4300	6503	SO:0001583	missense	0				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.311G>T	2.37:g.37464913G>T	ENSP00000002125:p.Trp104Leu		Q7Z399|Q9P1G3	Missense_Mutation	SNP	pfam_MidA	p.W104L	ENST00000002125.4	37	c.311	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756518	0.89843	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000416653;ENST00000439218;ENST00000432075	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92945	0.7755	H	0.97540	4.025	0.39695	D	0.971107	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.95388	0.8479	10	0.87932	D	0	-11.0493	19.6772	0.95941	0.0:0.0:1.0:0.0	.	77;104;77;104	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	L	104;77;25;62;62;62	ENSP00000002125:W104L;ENSP00000337431:W77L;ENSP00000399207:W25L;ENSP00000410181:W62L;ENSP00000394436:W62L;ENSP00000402959:W62L	ENSP00000002125:W104L	W	+	2	0	C2orf56	37318417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.519000	0.90563	2.656000	0.90262	0.655000	0.94253	TGG	NDUFAF7	-	pfam_MidA	ENSG00000003509		0.378	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF7	HGNC	protein_coding	OTTHUMT00000250267.1		0.00	36	0	G	NM_144736		37464913	+1			no_errors	ENST00000002125	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
NFASC	23114	genome.wustl.edu	37	1	204943394	204943394	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:204943394G>T	ENST00000401399.1	+	12	1566	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	NFASC_ENST00000539706.1_Missense_Mutation_p.G467V|NFASC_ENST00000513543.1_Missense_Mutation_p.G467V|NFASC_ENST00000338586.6_Missense_Mutation_p.G456V|NFASC_ENST00000367169.4_Missense_Mutation_p.G456V|NFASC_ENST00000338515.6_Missense_Mutation_p.G456V|NFASC_ENST00000367172.4_Missense_Mutation_p.G456V|NFASC_ENST00000403080.1_Missense_Mutation_p.G456V|NFASC_ENST00000360049.4_Missense_Mutation_p.G467V|NFASC_ENST00000404076.1_Missense_Mutation_p.G450V|NFASC_ENST00000339876.6_Missense_Mutation_p.G456V|NFASC_ENST00000404907.1_Missense_Mutation_p.G467V|NFASC_ENST00000367170.4_Missense_Mutation_p.G456V|NFASC_ENST00000367171.4_Missense_Mutation_p.G456V			O94856	NFASC_HUMAN	neurofascin	456	Ig-like C2-type 5.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTTTCTTTGGGTCTCCCATC	0.567																																																	0													81.0	54.0	63.0					1																	204943394		2203	4300	6503	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1367G>T	1.37:g.204943394G>T	ENSP00000385637:p.Gly456Val		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G456V	ENST00000401399.1	37	c.1367	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.4|28.4	4.914533|4.914533	0.92178|0.92178	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80123|0.79940	-1.34|-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|0.000000	0.53938|0.53938	D|D	0.000051|0.000051	D|D	0.92954|0.92954	0.7758|0.7758	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;0.998;1.0;0.999;0.992;0.998;1.0	D|D	0.94499|0.94499	0.7708|0.7708	8|10	0.87932|0.87932	D|D	0|0	.|.	19.0836|19.0836	0.93192|0.93192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|467;467;552;456;456;467;456	.|O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.;.	C|V	426|456;456;456;456;456;456;467;467;467;456;456;450;456;467;467;443	ENSP00000356141:G426C|ENSP00000356140:G456V;ENSP00000356139:G456V;ENSP00000356138:G456V;ENSP00000342128:G456V;ENSP00000344786:G456V;ENSP00000343509:G456V;ENSP00000438614:G467V;ENSP00000353154:G467V;ENSP00000356137:G456V;ENSP00000384875:G456V;ENSP00000385676:G450V;ENSP00000385637:G456V;ENSP00000384061:G467V;ENSP00000425908:G467V;ENSP00000415031:G443V	ENSP00000356141:G426C|ENSP00000295776:G467V	G|G	+|+	1|2	0|0	NFASC|NFASC	203210017|203210017	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.934000|0.934000	0.57294|0.57294	9.168000|9.168000	0.94781|0.94781	2.612000|2.612000	0.88384|0.88384	0.585000|0.585000	0.79938|0.79938	GGT|GGG	NFASC	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000163531		0.567	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1		0.00	46	0	G	NM_001005388		204943394	+1			no_errors	ENST00000367172	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
NPC1	4864	genome.wustl.edu	37	18	21124978	21124978	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr18:21124978C>T	ENST00000269228.5	-	12	2447	c.1893G>A	c.(1891-1893)atG>atA	p.M631I	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.M313I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	631	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.		M -> R (in NPC1). {ECO:0000269|PubMed:11333381, ECO:0000269|PubMed:16126423}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TATATAGAAACATGATGGCAT	0.453																																																	0													108.0	99.0	102.0					18																	21124978		2203	4300	6503	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1893G>A	18.37:g.21124978C>T	ENSP00000269228:p.Met631Ile		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	p.M631I	ENST00000269228.5	37	c.1893	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364203	0.82353	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.89939	-2.59;-2.59	6.06	6.06	0.98353	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.89836	0.6830	L	0.58510	1.815	0.80722	D	1	P;P	0.46220	0.874;0.584	P;B	0.44897	0.463;0.175	D	0.89304	0.3628	10	0.51188	T	0.08	-41.7159	20.6282	0.99521	0.0:1.0:0.0:0.0	.	642;631	Q59GR1;O15118	.;NPC1_HUMAN	I	631;313;476	ENSP00000269228:M631I;ENSP00000408606:M313I	ENSP00000269228:M631I	M	-	3	0	NPC1	19378976	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	7.614000	0.82996	2.871000	0.98454	0.655000	0.94253	ATG	NPC1	-	pfam_Patched,pfscan_SSD,tigrfam_NP_C_type	ENSG00000141458		0.453	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2		0.00	26	0	C	NM_000271		21124978	-1			no_errors	ENST00000269228	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T
NRG1	3084	genome.wustl.edu	37	8	32621347	32621347	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:32621347G>A	ENST00000405005.3	+	12	1350	c.1350G>A	c.(1348-1350)tcG>tcA	p.S450S	NRG1_ENST00000356819.4_Silent_p.S455S|NRG1_ENST00000338921.4_Silent_p.S458S|NRG1_ENST00000519301.1_Silent_p.S400S|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000539990.1_Silent_p.S293S|NRG1_ENST00000287842.3_Silent_p.S447S|NRG1_ENST00000287845.5_Silent_p.S421S|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	450					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S455S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGCCCCCTTCGGAAATGTCTC	0.562																																																	1	Substitution - coding silent(1)	large_intestine(1)											107.0	104.0	105.0					8																	32621347		2203	4300	6503	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1350G>A	8.37:g.32621347G>A			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.S458	ENST00000405005.3	37	c.1374	CCDS6085.1	8																																																																																			NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.562	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1		0.00	32	0	G			32621347	+1			no_errors	ENST00000338921	ensembl	human	known	74_37	silent	11.36	38	5	SNP	0.985	A
NRG3	10718	genome.wustl.edu	37	10	83635583	83635583	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:83635583C>T	ENST00000404547.1	+	1	487	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.R163W|NRG3_ENST00000404576.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	163	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R163W(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CACCATCACGCGGGCGCCCAC	0.736																																																	1	Substitution - Missense(1)	lung(1)											30.0	36.0	34.0					10																	83635583		2201	4297	6498	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.487C>T	10.37:g.83635583C>T	ENSP00000384796:p.Arg163Trp		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.R163W	ENST00000404547.1	37	c.487	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697320	0.68386	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.34472	1.36;1.38	3.23	3.23	0.37069	.	0.240030	0.19831	U	0.105095	T	0.40932	0.1137	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.952	T	0.30880	-0.9963	10	0.45353	T	0.12	-5.2452	12.3554	0.55171	0.0:1.0:0.0:0.0	.	163;163	B9EGV5;P56975-4	.;.	W	163	ENSP00000361214:R163W;ENSP00000384796:R163W	ENSP00000361214:R163W	R	+	1	2	NRG3	83625563	0.414000	0.25408	1.000000	0.80357	0.980000	0.70556	0.369000	0.20416	1.808000	0.52836	0.478000	0.44815	CGG	NRG3	-	NULL	ENSG00000185737		0.736	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1		0.00	30	0	C	XM_166086		83635583	+1			no_errors	ENST00000404547	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	T
NTHL1	4913	genome.wustl.edu	37	16	2093676	2093676	+	Missense_Mutation	SNP	C	C	T	rs200007034		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:2093676C>T	ENST00000219066.1	-	4	619	c.601G>A	c.(601-603)Ggt>Agt	p.G201S	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1			nth endonuclease III-like 1 (E. coli)											lung(1)	1						ATGTCCCCACCGTAGTGCTGC	0.627								Base excision repair (BER), DNA glycosylases					C|||	1	0.000199681	0.0	0.0014	5008	,	,		19191	0.0		0.0	False		,,,				2504	0.0																0													79.0	61.0	67.0					16																	2093676		2197	4300	6497	SO:0001583	missense	0			U81285	CCDS10457.1	16p13.3	2008-02-05	2001-11-28		ENSG00000065057	ENSG00000065057			8028	protein-coding gene	gene with protein product		602656	"""nth (E.coli endonuclease III)-like 1"""			9045706, 8990169	Standard	NM_002528		Approved	NTH1, OCTS3	uc002col.1	P78549	OTTHUMG00000128744	ENST00000219066.1:c.601G>A	16.37:g.2093676C>T	ENSP00000219066:p.Gly201Ser			Missense_Mutation	SNP	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.G201S	ENST00000219066.1	37	c.601	CCDS10457.1	16	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.02	1.813425	0.32053	.	.	ENSG00000065057	ENST00000219066	T	0.46063	0.88	5.32	2.13	0.27403	Helix-hairpin-helix motif (1);HhH-GPD domain (2);DNA glycosylase (2);	0.467007	0.24766	N	0.035773	T	0.41627	0.1167	M	0.84948	2.725	0.09310	N	0.999996	B;B	0.29571	0.249;0.249	B;B	0.26770	0.073;0.073	T	0.32241	-0.9914	10	0.33141	T	0.24	-0.1849	7.1062	0.25364	0.0:0.7011:0.142:0.1568	.	201;201	E5KTI5;P78549	.;NTHL1_HUMAN	S	201	ENSP00000219066:G201S	ENSP00000219066:G201S	G	-	1	0	NTHL1	2033677	0.000000	0.05858	0.001000	0.08648	0.325000	0.28411	0.606000	0.24194	0.630000	0.30394	0.491000	0.48974	GGT	NTHL1	-	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain	ENSG00000065057		0.627	NTHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250656.1		0.00	32	0	C	NM_002528		2093676	-1			no_errors	ENST00000219066	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.010	T
NXT1	29107	genome.wustl.edu	37	20	23334730	23334730	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:23334730G>T	ENST00000254998.2	+	2	439	c.52G>T	c.(52-54)Gag>Tag	p.E18*	RP3-322G13.7_ENST00000442884.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	18	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)		p.E18K(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGAGCTGCTGAGGAGTTTGT	0.547																																																	1	Substitution - Missense(1)	ovary(1)											96.0	91.0	93.0					20																	23334730		2203	4300	6503	SO:0001587	stop_gained	0			AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.52G>T	20.37:g.23334730G>T	ENSP00000254998:p.Glu18*			Nonsense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.E18*	ENST00000254998.2	37	c.52	CCDS13150.1	20	.	.	.	.	.	.	.	.	.	.	G	39	7.469451	0.98302	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	14.716	0.69269	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000254998:E18X	E	+	1	0	NXT1	23282730	1.000000	0.71417	0.972000	0.41901	0.958000	0.62258	8.768000	0.91737	2.941000	0.99782	0.655000	0.94253	GAG	NXT1	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000132661		0.547	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT1	HGNC	protein_coding	OTTHUMT00000078313.2		0.00	37	0	G	NM_013248		23334730	+1			no_errors	ENST00000254998	ensembl	human	known	74_37	nonsense	6.45	28	2	SNP	0.998	T
OR4N5	390437	genome.wustl.edu	37	14	20611972	20611972	+	Silent	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:20611972G>T	ENST00000333629.1	+	1	78	c.78G>T	c.(76-78)ctG>ctT	p.L26L	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTCAACTTCTGGTCTTTGTGC	0.433																																																	0													191.0	186.0	188.0					14																	20611972		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.78G>T	14.37:g.20611972G>T			Q6IF11	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L26	ENST00000333629.1	37	c.78	CCDS32031.1	14																																																																																			OR4N5	-	prints_GPCR_Rhodpsn	ENSG00000184394		0.433	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N5	HGNC	protein_coding	OTTHUMT00000410347.1		0.00	106	0	G			20611972	+1			no_errors	ENST00000333629	ensembl	human	known	74_37	silent	25.00	69	23	SNP	0.568	T
OVCH1	341350	genome.wustl.edu	37	12	29604280	29604280	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:29604280G>C	ENST00000318184.5	-	22	2752	c.2753C>G	c.(2752-2754)gCa>gGa	p.A918G	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	918	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGGATTACCTGCCGTCTTTCT	0.413																																																	0													42.0	41.0	41.0					12																	29604280		1886	4114	6000	SO:0001583	missense	0			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2753C>G	12.37:g.29604280G>C	ENSP00000326708:p.Ala918Gly			Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A918G	ENST00000318184.5	37	c.2753		12	.	.	.	.	.	.	.	.	.	.	G	6.338	0.430429	0.12045	.	.	ENSG00000187950	ENST00000318184	T	0.34667	1.35	2.64	0.736	0.18307	CUB (5);	.	.	.	.	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	P	0.43826	0.818	B	0.33042	0.157	T	0.11518	-1.0584	9	0.54805	T	0.06	.	3.7919	0.08724	0.1502:0.2567:0.5932:0.0	.	918	Q7RTY7	OVCH1_HUMAN	G	918	ENSP00000326708:A918G	ENSP00000326708:A918G	A	-	2	0	OVCH1	29495547	0.002000	0.14202	0.000000	0.03702	0.097000	0.18754	1.148000	0.31614	0.190000	0.20209	0.455000	0.32223	GCA	OVCH1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000187950		0.413	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2		0.00	32	0	G	NM_183378		29604280	-1			no_errors	ENST00000318184	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	C
PANK2	80025	genome.wustl.edu	37	20	3869972	3869972	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:3869972G>A	ENST00000316562.4	+	1	231	c.225G>A	c.(223-225)tcG>tcA	p.S75S	PANK2_ENST00000610179.1_5'Flank|RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	75					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCCAGCCTCGTCGGATTGGC	0.682																																																	0													20.0	15.0	17.0					20																	3869972		2198	4297	6495	SO:0001819	synonymous_variant	0			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.225G>A	20.37:g.3869972G>A			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.S75	ENST00000316562.4	37	c.225	CCDS13071.2	20																																																																																			PANK2	-	NULL	ENSG00000125779		0.682	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANK2	HGNC	protein_coding	OTTHUMT00000077793.2		0.00	23	0	G	NM_024960		3869972	+1			no_errors	ENST00000316562	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.003	A
PAPPA2	60676	genome.wustl.edu	37	1	176659433	176659433	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:176659433A>C	ENST00000367662.3	+	5	3462	c.2298A>C	c.(2296-2298)gaA>gaC	p.E766D	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E766D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	766					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATCCATGGAAACGGGAGACC	0.557																																																	0													114.0	119.0	118.0					1																	176659433		2021	4200	6221	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2298A>C	1.37:g.176659433A>C	ENSP00000356634:p.Glu766Asp		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.E766D	ENST00000367662.3	37	c.2298	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865479	0.51588	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.35421	4.54;1.31	5.12	-10.2	0.00374	Peptidase M43, pregnancy-associated plasma-A (1);	0.248833	0.40640	N	0.001043	T	0.33990	0.0882	M	0.68593	2.085	0.31458	N	0.669902	B;B	0.32604	0.377;0.145	P;B	0.47827	0.558;0.06	T	0.46748	-0.9169	10	0.35671	T	0.21	-8.3549	3.8244	0.08848	0.2932:0.2778:0.3448:0.0842	.	766;766	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	D	766	ENSP00000356634:E766D;ENSP00000356633:E766D	ENSP00000356633:E766D	E	+	3	2	PAPPA2	174926056	0.475000	0.25894	0.497000	0.27552	0.956000	0.61745	-0.289000	0.08365	-2.579000	0.00463	0.460000	0.39030	GAA	PAPPA2	-	pfam_Peptidase_M43	ENSG00000116183		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1		0.00	38	0	A			176659433	+1			no_errors	ENST00000367662	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.587	C
PCDHA4	56144	genome.wustl.edu	37	5	140188574	140188574	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140188574C>T	ENST00000530339.1	+	1	1802	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	PCDHA4_ENST00000512229.2_Missense_Mutation_p.S601L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S601L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCTGACTCGGGCTACAAC	0.687																																																	0													128.0	115.0	119.0					5																	140188574		2203	4299	6502	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1802C>T	5.37:g.140188574C>T	ENSP00000435300:p.Ser601Leu		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S601L	ENST00000530339.1	37	c.1802	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	c	14.69	2.610012	0.46527	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.49432	0.78;0.78;0.78	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.216774	0.23209	N	0.050686	T	0.70509	0.3232	M	0.80982	2.52	0.21861	N	0.999507	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.927;0.983;0.997	T	0.65569	-0.6136	10	0.87932	D	0	.	16.6588	0.85236	0.0:1.0:0.0:0.0	.	601;601;601	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	601	ENSP00000423470:S601L;ENSP00000349344:S601L;ENSP00000435300:S601L	ENSP00000349344:S601L	S	+	2	0	PCDHA4	140168758	0.000000	0.05858	0.643000	0.29450	0.434000	0.31775	0.898000	0.28404	2.006000	0.58801	0.484000	0.47621	TCG	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.687	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2		0.00	125	0	C	NM_018907		140188574	+1			no_errors	ENST00000530339	ensembl	human	known	74_37	missense	20.18	91	23	SNP	0.598	T
PCDHA9	9752	genome.wustl.edu	37	5	140229376	140229376	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140229376G>A	ENST00000532602.1	+	1	2329	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S432S|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCACTGT	0.632																																					Melanoma(55;1800 1972 14909)												0													79.0	77.0	78.0					5																	140229376		2196	4269	6465	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1296G>A	5.37:g.140229376G>A			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S432	ENST00000532602.1	37	c.1296	CCDS54920.1	5																																																																																			PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204961		0.632	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2		0.00	131	0	G	NM_031857		140229376	+1			no_errors	ENST00000532602	ensembl	human	known	74_37	silent	14.29	78	13	SNP	0.170	A
PCDHB15	56121	genome.wustl.edu	37	5	140626811	140626811	+	Silent	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140626811C>T	ENST00000231173.3	+	1	1665	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.716																																																	0													25.0	30.0	28.0					5																	140626811		2200	4292	6492	SO:0001819	synonymous_variant	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1665C>T	5.37:g.140626811C>T			Q8IUX5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N555	ENST00000231173.3	37	c.1665	CCDS4257.1	5																																																																																			PCDHB15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113248		0.716	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2		0.00	153	0	C	NM_018935		140626811	+1			no_errors	ENST00000231173	ensembl	human	known	74_37	silent	28.24	94	37	SNP	0.998	T
PCDHGA11	56105	genome.wustl.edu	37	5	140800930	140800930	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140800930G>A	ENST00000398587.2	+	1	169	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V46M|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCCTTCGTGGGCAATAT	0.622																																																	0													38.0	45.0	43.0					5																	140800930		1992	4238	6230	SO:0001583	missense	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.136G>A	5.37:g.140800930G>A	ENSP00000381589:p.Val46Met		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V46M	ENST00000398587.2	37	c.136	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	g	18.18	3.565739	0.65651	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.54866	0.55;0.55	6.08	6.08	0.98989	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.26673	U	0.023088	D	0.87111	0.6096	H	0.99811	4.8	0.41325	D	0.987205	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.92441	0.5962	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	46;46;46	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	46	ENSP00000381589:V46M;ENSP00000428333:V46M	ENSP00000381589:V46M	V	+	1	0	PCDHGA11	140781114	1.000000	0.71417	0.989000	0.46669	0.188000	0.23474	5.791000	0.69045	2.894000	0.99253	0.591000	0.81541	GTG	PCDHGA11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.622	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1		0.00	52	0	G	NM_018914		140800930	+1			no_errors	ENST00000398587	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A
PCDHGC5	56097	genome.wustl.edu	37	5	140869747	140869747	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:140869747C>T	ENST00000252087.1	+	1	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGAGTCACGTTTCTATGA	0.527																																																	0													84.0	82.0	83.0					5																	140869747		2203	4300	6503	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.940C>T	5.37:g.140869747C>T	ENSP00000252087:p.Arg314Cys		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R314C	ENST00000252087.1	37	c.940	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	C	4.200	0.035878	0.08148	.	.	ENSG00000240764	ENST00000252087	T	0.01767	4.65	5.95	0.697	0.18081	Cadherin (4);Cadherin-like (1);	0.481200	0.21337	N	0.076194	T	0.02767	0.0083	M	0.71296	2.17	0.09310	N	1	D;P	0.57571	0.98;0.666	B;B	0.43916	0.429;0.436	T	0.41610	-0.9499	10	0.66056	D	0.02	.	4.6369	0.12528	0.4689:0.3553:0.0635:0.1123	.	314;314	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	C	314	ENSP00000252087:R314C	ENSP00000252087:R314C	R	+	1	0	PCDHGC5	140849931	0.000000	0.05858	0.899000	0.35326	0.000000	0.00434	1.199000	0.32235	-0.093000	0.12396	-1.533000	0.00918	CGT	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.527	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1		0.00	28	0	C	NM_018929		140869747	+1			no_errors	ENST00000252087	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.006	T
PDGFRA	5156	genome.wustl.edu	37	4	55133523	55133523	+	Missense_Mutation	SNP	C	C	T	rs142492533		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:55133523C>T	ENST00000257290.5	+	6	1158	c.827C>T	c.(826-828)aCg>aTg	p.T276M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	276	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TACACTTTGACGGTCCCCGAG	0.468			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	94.0	95.0	95.0		827	-2.4	0.0	4	dbSNP_134	95	0,8600		0,0,4300	no	missense	PDGFRA	NM_006206.4	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	276/1090	55133523	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.827C>T	4.37:g.55133523C>T	ENSP00000257290:p.Thr276Met		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T276M	ENST00000257290.5	37	c.827	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938558	0.34189	2.27E-4	0.0	ENSG00000134853	ENST00000257290	T	0.69806	-0.43	5.67	-2.37	0.06643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.529761	0.13620	U	0.374486	T	0.56441	0.1985	L	0.61387	1.9	0.48341	D	0.999631	B;B	0.24132	0.098;0.06	B;B	0.28638	0.092;0.025	T	0.30387	-0.9980	10	0.34782	T	0.22	.	4.8135	0.13354	0.1745:0.5043:0.2013:0.1199	.	276;276	P16234-3;P16234	.;PGFRA_HUMAN	M	276	ENSP00000257290:T276M	ENSP00000257290:T276M	T	+	2	0	PDGFRA	54828280	0.001000	0.12720	0.002000	0.10522	0.984000	0.73092	-0.127000	0.10547	-1.008000	0.03404	0.313000	0.20887	ACG	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134853		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2		0.00	35	0	C	NM_006206		55133523	+1			no_errors	ENST00000257290	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.057	T
PHF2	5253	genome.wustl.edu	37	9	96429413	96429413	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:96429413C>T	ENST00000359246.4	+	17	2606	c.2239C>T	c.(2239-2241)Ccc>Tcc	p.P747S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	747					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGACACCAAGCCCGGCCGCAA	0.632																																																	0													56.0	55.0	56.0					9																	96429413		2203	4300	6503	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2239C>T	9.37:g.96429413C>T	ENSP00000352185:p.Pro747Ser		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P747S	ENST00000359246.4	37	c.2239	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	c	15.18	2.757342	0.49468	.	.	ENSG00000197724	ENST00000359246	T	0.16897	2.31	4.99	4.99	0.66335	.	0.118209	0.64402	D	0.000018	T	0.36276	0.0961	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.824	T	0.08066	-1.0740	10	0.56958	D	0.05	-22.8252	18.2858	0.90113	0.0:1.0:0.0:0.0	.	166;747	Q8N359;O75151	.;PHF2_HUMAN	S	747	ENSP00000352185:P747S	ENSP00000352185:P747S	P	+	1	0	PHF2	95469234	1.000000	0.71417	0.996000	0.52242	0.304000	0.27724	4.350000	0.59392	2.307000	0.77673	0.298000	0.19748	CCC	PHF2	-	NULL	ENSG00000197724		0.632	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0.00	74	0	C	NM_005392		96429413	+1			no_errors	ENST00000359246	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	T
POU6F2	11281	genome.wustl.edu	37	7	39472858	39472858	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:39472858G>A	ENST00000403058.1	+	8	1363	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L	POU6F2_ENST00000559001.1_Silent_p.L348L|POU6F2_ENST00000518318.2_Silent_p.L403L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	403	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCATCACGCTGTCACCCATCA	0.577																																																	0													95.0	73.0	81.0					7																	39472858		2203	4300	6503	SO:0001819	synonymous_variant	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1209G>A	7.37:g.39472858G>A			A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.L403	ENST00000403058.1	37	c.1209	CCDS34620.2	7																																																																																			POU6F2	-	NULL	ENSG00000106536		0.577	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3		0.00	13	0	G	NM_007252		39472858	+1			no_errors	ENST00000403058	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.511	A
PPP6R2	9701	genome.wustl.edu	37	22	50879368	50879368	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:50879368C>T	ENST00000216061.5	+	23	2883	c.2513C>T	c.(2512-2514)gCg>gTg	p.A838V	PPP6R2_ENST00000395741.3_Missense_Mutation_p.A805V|PPP6R2_ENST00000359139.3_Missense_Mutation_p.A805V|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A804V			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	838						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CAGAAGGCAGCGAGTGCCATG	0.692																																																	0													40.0	43.0	42.0					22																	50879368		2203	4300	6503	SO:0001583	missense	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2513C>T	22.37:g.50879368C>T	ENSP00000216061:p.Ala838Val		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.A838V	ENST00000216061.5	37	c.2513		22	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954248	0.34471	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.74	-0.706	0.11249	.	1.930550	0.04326	N	0.351527	T	0.25901	0.0631	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.19935	0.04;0.031;0.018;0.031;0.013;0.031	B;B;B;B;B;B	0.15484	0.013;0.01;0.004;0.004;0.004;0.006	T	0.18524	-1.0334	10	0.34782	T	0.22	-1.3176	2.569	0.04790	0.19:0.4364:0.2248:0.1488	.	364;831;838;805;804;805	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	V	805;805;804;838	ENSP00000352051:A805V;ENSP00000379090:A805V;ENSP00000379093:A804V;ENSP00000216061:A838V	ENSP00000216061:A838V	A	+	2	0	PPP6R2	49226234	0.011000	0.17503	0.001000	0.08648	0.033000	0.12548	0.067000	0.14510	0.322000	0.23283	0.491000	0.48974	GCG	PPP6R2	-	NULL	ENSG00000100239		0.692	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1		0.00	86	0	C	NM_014678		50879368	+1			no_errors	ENST00000216061	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.000	T
PRAMEF2	65122	genome.wustl.edu	37	1	12918902	12918902	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:12918902C>T	ENST00000240189.2	+	2	125	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	13					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGCTGGCGGGGCAGAGC	0.567																																																	0													85.0	96.0	93.0					1																	12918902		2201	4297	6498	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.38C>T	1.37:g.12918902C>T	ENSP00000240189:p.Ala13Val			Missense_Mutation	SNP	NULL	p.A13V	ENST00000240189.2	37	c.38	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	c	7.735	0.699990	0.15106	.	.	ENSG00000120952	ENST00000240189	T	0.06371	3.31	0.842	-0.292	0.12839	.	0.149522	0.46145	D	0.000314	T	0.06142	0.0159	M	0.70108	2.13	0.09310	N	1	P	0.35077	0.483	B	0.28385	0.089	T	0.25117	-1.0141	10	0.72032	D	0.01	.	3.3578	0.07176	0.0:0.6655:0.0:0.3345	.	13	O60811	PRAM2_HUMAN	V	13	ENSP00000240189:A13V	ENSP00000240189:A13V	A	+	2	0	PRAMEF2	12841489	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.554000	0.06006	-0.108000	0.12066	0.194000	0.17425	GCG	PRAMEF2	-	NULL	ENSG00000120952		0.567	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1		0.00	68	0	C	NM_023014		12918902	+1			no_errors	ENST00000240189	ensembl	human	known	74_37	missense	23.33	46	14	SNP	0.001	T
PROX1	5629	genome.wustl.edu	37	1	214171287	214171287	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:214171287C>G	ENST00000366958.4	+	2	2017	c.1409C>G	c.(1408-1410)tCt>tGt	p.S470C	PROX1_ENST00000498508.2_Missense_Mutation_p.S470C|PROX1_ENST00000261454.4_Missense_Mutation_p.S470C|PROX1_ENST00000435016.1_Missense_Mutation_p.S470C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	470					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCGCCTCTCTCTGCCACCACG	0.652																																																	0													75.0	89.0	84.0					1																	214171287		2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1409C>G	1.37:g.214171287C>G	ENSP00000355925:p.Ser470Cys		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.S470C	ENST00000366958.4	37	c.1409	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132713	0.56828	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.50548	0.75;0.74;0.75;0.75	5.47	5.47	0.80525	.	0.051812	0.85682	D	0.000000	T	0.65217	0.2670	L	0.60455	1.87	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	T	0.67078	-0.5761	10	0.72032	D	0.01	-2.8496	19.3291	0.94278	0.0:1.0:0.0:0.0	.	470	Q92786	PROX1_HUMAN	C	42;470;470;470;470	ENSP00000420283:S470C;ENSP00000355925:S470C;ENSP00000400694:S470C;ENSP00000261454:S470C	ENSP00000261454:S470C	S	+	2	0	PROX1	212237910	1.000000	0.71417	0.936000	0.37596	0.983000	0.72400	5.948000	0.70249	2.582000	0.87167	0.655000	0.94253	TCT	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.652	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6		0.00	19	0	C	NM_002763		214171287	+1			no_errors	ENST00000261454	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	G
PROX1	5629	genome.wustl.edu	37	1	214171467	214171467	+	Missense_Mutation	SNP	C	C	G	rs148478012		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:214171467C>G	ENST00000366958.4	+	2	2197	c.1589C>G	c.(1588-1590)tCt>tGt	p.S530C	PROX1_ENST00000498508.2_Missense_Mutation_p.S530C|PROX1_ENST00000261454.4_Missense_Mutation_p.S530C|PROX1_ENST00000435016.1_Missense_Mutation_p.S530C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	530					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAGATGTCATCTCACCACCTG	0.557																																																	0								C	CYS/SER	0,4406		0,0,2203	103.0	104.0	104.0		1589	5.4	1.0	1	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROX1	NM_002763.3	112	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	530/738	214171467	1,13005	2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1589C>G	1.37:g.214171467C>G	ENSP00000355925:p.Ser530Cys		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.S530C	ENST00000366958.4	37	c.1589	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225805	0.58668	0.0	1.16E-4	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.53640	0.63;0.61;0.63;0.63	5.39	5.39	0.77823	.	0.167232	0.56097	D	0.000036	T	0.71451	0.3341	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74797	-0.3543	10	0.72032	D	0.01	-3.8601	19.1711	0.93578	0.0:1.0:0.0:0.0	.	530	Q92786	PROX1_HUMAN	C	102;530;530;530;530	ENSP00000420283:S530C;ENSP00000355925:S530C;ENSP00000400694:S530C;ENSP00000261454:S530C	ENSP00000261454:S530C	S	+	2	0	PROX1	212238090	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	5.999000	0.70665	2.525000	0.85131	0.655000	0.94253	TCT	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.557	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6		0.00	38	0	C	NM_002763		214171467	+1			no_errors	ENST00000261454	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G
PXDNL	137902	genome.wustl.edu	37	8	52321517	52321517	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:52321517C>A	ENST00000356297.4	-	17	2767	c.2667G>T	c.(2665-2667)caG>caT	p.Q889H	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q889H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	889					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGCTGTTTGCTGGTTGATCT	0.632																																																	0													45.0	50.0	48.0					8																	52321517		2048	4186	6234	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2667G>T	8.37:g.52321517C>A	ENSP00000348645:p.Gln889His		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.Q889H	ENST00000356297.4	37	c.2667	CCDS47855.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.453|5.453	0.268627|0.268627	0.10349|0.10349	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.69561|.	-0.41;-0.41|.	4.17|4.17	1.88|1.88	0.25563|0.25563	.|.	0.133396|.	0.34046|.	N|.	0.004320|.	T|T	0.66597|0.66597	0.2805|0.2805	M|M	0.92412|0.92412	3.305|3.305	0.23899|0.23899	N|N	0.996526|0.996526	B|.	0.29136|.	0.234|.	B|.	0.34301|.	0.179|.	T|T	0.58595|0.58595	-0.7609|-0.7609	10|5	0.56958|.	D|.	0.05|.	.|.	8.613|8.613	0.33815|0.33815	0.0:0.7556:0.0:0.2444|0.0:0.7556:0.0:0.2444	.|.	889|.	A1KZ92|.	PXDNL_HUMAN|.	H|I	889|8	ENSP00000348645:Q889H;ENSP00000444865:Q889H|.	ENSP00000348645:Q889H|.	Q|S	-|-	3|2	2|0	PXDNL|PXDNL	52484070|52484070	0.002000|0.002000	0.14202|0.14202	0.109000|0.109000	0.21407|0.21407	0.020000|0.020000	0.10135|0.10135	-1.340000|-1.340000	0.02650|0.02650	0.726000|0.726000	0.32339|0.32339	0.655000|0.655000	0.94253|0.94253	CAG|AGC	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.632	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1		0.00	22	0	C	NM_144651		52321517	-1			no_errors	ENST00000356297	ensembl	human	known	74_37	missense	55.00	9	11	SNP	0.998	A
RADIL	55698	genome.wustl.edu	37	7	4874577	4874577	+	Silent	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:4874577C>T	ENST00000399583.3	-	4	1264	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	RADIL_ENST00000536091.1_Silent_p.A359A|RADIL_ENST00000538469.1_Silent_p.A119A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	359	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTGGGCCTGCGCGGGGTCCT	0.746																																																	0													9.0	12.0	11.0					7																	4874577		1855	4073	5928	SO:0001819	synonymous_variant	0			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1077G>A	7.37:g.4874577C>T			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.A358T	ENST00000399583.3	37	c.1072	CCDS43544.1	7																																																																																			RADIL	-	NULL	ENSG00000157927		0.746	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2		0.00	42	0	C	NM_018059		4874577	-1			no_errors	ENST00000445392	ensembl	human	known	74_37	missense	22.22	42	12	SNP	0.001	T
RANBP6	26953	genome.wustl.edu	37	9	6012763	6012763	+	Missense_Mutation	SNP	G	G	C	rs147043824		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:6012763G>C	ENST00000259569.5	-	1	2855	c.2845C>G	c.(2845-2847)Cgt>Ggt	p.R949G	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	949					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R949C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATAAAGAACGATAATCATCT	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											79.0	72.0	74.0					9																	6012763		2203	4300	6503	SO:0001583	missense	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2845C>G	9.37:g.6012763G>C	ENSP00000259569:p.Arg949Gly		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R949G	ENST00000259569.5	37	c.2845	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491979	0.26774	.	.	ENSG00000137040	ENST00000259569	T	0.09911	2.93	4.56	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.111224	0.64402	D	0.000013	T	0.12008	0.0292	L	0.60455	1.87	0.80722	D	1	B;B;B	0.14805	0.005;0.011;0.001	B;B;B	0.15052	0.008;0.012;0.003	T	0.07009	-1.0795	10	0.19147	T	0.46	-7.9828	13.0586	0.58994	0.0:0.163:0.837:0.0	.	116;537;949	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	G	949	ENSP00000259569:R949G	ENSP00000259569:R949G	R	-	1	0	RANBP6	6002763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.967000	0.56802	1.507000	0.48752	0.650000	0.86243	CGT	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1		0.00	37	0	G	NM_012416		6012763	-1			no_errors	ENST00000259569	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	C
RAVER2	55225	genome.wustl.edu	37	1	65278495	65278495	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:65278495G>T	ENST00000294428.3	+	10	1833	c.1755G>T	c.(1753-1755)ttG>ttT	p.L585F	RAVER2_ENST00000430964.2_Missense_Mutation_p.L124F|RAVER2_ENST00000371072.4_Missense_Mutation_p.L572F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	585						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATCCATACTTGAATTTGGCAA	0.378																																																	0													125.0	113.0	117.0					1																	65278495		1829	4089	5918	SO:0001583	missense	0			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1755G>T	1.37:g.65278495G>T	ENSP00000294428:p.Leu585Phe		Q6P141|Q9NPV7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L585F	ENST00000294428.3	37	c.1755		1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735109	0.69189	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	D;D;D	0.82081	-1.57;-1.57;-1.57	5.49	5.49	0.81192	.	0.081979	0.48767	D	0.000165	D	0.88496	0.6452	M	0.62723	1.935	0.44477	D	0.997419	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89295	0.3622	10	0.72032	D	0.01	-15.7564	17.1455	0.86765	0.0:0.0:1.0:0.0	.	585;572	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	F	572;585;124	ENSP00000360112:L572F;ENSP00000294428:L585F;ENSP00000408950:L124F	ENSP00000294428:L585F	L	+	3	2	RAVER2	65051083	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	4.236000	0.58675	2.558000	0.86282	0.579000	0.79373	TTG	RAVER2	-	NULL	ENSG00000162437		0.378	RAVER2-201	KNOWN	basic	protein_coding	RAVER2	HGNC	protein_coding			0.00	77	0	G	NM_018211		65278495	+1			no_errors	ENST00000294428	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	105001531	105001531	+	Splice_Site	SNP	A	A	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:105001531A>T	ENST00000436393.2	+	15	2502		c.e15-1		RIMS2_ENST00000507740.1_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTGTTGTTTTAGTCGGAATGT	0.383										HNSCC(12;0.0054)																																							0													127.0	123.0	124.0					8																	105001531		1852	4095	5947	SO:0001630	splice_region_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2262-1A>T	8.37:g.105001531A>T			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Splice_Site	SNP	-	e17-2	ENST00000436393.2	37	c.2928-2		8	.	.	.	.	.	.	.	.	.	.	A	14.81	2.645882	0.47258	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.54	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6055	0.45392	0.9238:0.0:0.0762:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIMS2	105070707	1.000000	0.71417	0.993000	0.49108	0.517000	0.34286	2.471000	0.45127	2.115000	0.64714	0.397000	0.26171	.	RIMS2	-	-	ENSG00000176406		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1		0.00	76	0	A	NM_001100117	Intron	105001531	+1			no_errors	ENST00000406091	ensembl	human	known	74_37	splice_site	55.41	33	41	SNP	0.990	T
RPL26	6154	genome.wustl.edu	37	17	8280945	8280945	+	Silent	SNP	A	A	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:8280945A>C	ENST00000584164.1	-	4	766	c.375T>G	c.(373-375)tcT>tcG	p.S125S	RP11-849F2.7_ENST00000582471.1_Intron|RPL26_ENST00000582556.1_Silent_p.S125S|RPL26_ENST00000583011.1_Silent_p.S125S|KRBA2_ENST00000396267.1_5'Flank|RPL26_ENST00000293842.5_Silent_p.S125S|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000585181.1_RNA|RPL26_ENST00000585176.1_5'UTR|RP11-849F2.5_ENST00000579904.1_RNA			P61254	RL26_HUMAN	ribosomal protein L26	125					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			skin(1)|urinary_tract(1)	2						CTACTTGGCGAGATTTGGCTT	0.373																																																	0													90.0	96.0	94.0					17																	8280945		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS11142.1	17p13	2011-04-06			ENSG00000161970	ENSG00000161970		"""L ribosomal proteins"""	10327	protein-coding gene	gene with protein product		603704				8479925	Standard	XM_005256749		Approved	L26	uc002glh.1	P61254	OTTHUMG00000108191	ENST00000584164.1:c.375T>G	17.37:g.8280945A>C			B2R4F0|D3DTR8|Q02877|Q6IPY2	Silent	SNP	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	p.S125	ENST00000584164.1	37	c.375	CCDS11142.1	17																																																																																			RPL26	-	superfamily_Translation_prot_SH3-like	ENSG00000161970		0.373	RPL26-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL26	HGNC	protein_coding	OTTHUMT00000442322.1		0.00	67	0	A	NM_000987		8280945	-1			no_errors	ENST00000293842	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	C
RSPH14	27156	genome.wustl.edu	37	22	23406102	23406102	+	Missense_Mutation	SNP	C	C	T	rs145095630		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:23406102C>T	ENST00000216036.4	-	5	827	c.631G>A	c.(631-633)Gcc>Acc	p.A211T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		211										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AGCGCACGGGCGGCCTTGCTG	0.627																																																	0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	76.0	68.0	71.0		631	4.7	0.1	22	dbSNP_134	71	0,8600		0,0,4300	no	missense	RTDR1	NM_014433.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	211/349	23406102	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000216036.4:c.631G>A	22.37:g.23406102C>T	ENSP00000216036:p.Ala211Thr			Missense_Mutation	SNP	pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold	p.A211T	ENST00000216036.4	37	c.631	CCDS13803.1	22	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971347	0.53614	2.27E-4	0.0	ENSG00000100218	ENST00000216036	T	0.21932	1.98	4.71	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.446678	0.23041	N	0.052619	T	0.50394	0.1613	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54139	-0.8338	10	0.45353	T	0.12	-23.3373	13.5018	0.61459	0.0:1.0:0.0:0.0	.	211	Q9UHP6	RTDR1_HUMAN	T	211	ENSP00000216036:A211T	ENSP00000216036:A211T	A	-	1	0	RTDR1	21736102	0.992000	0.36948	0.120000	0.21714	0.002000	0.02628	3.404000	0.52623	2.339000	0.79563	0.555000	0.69702	GCC	RTDR1	-	superfamily_ARM-type_fold	ENSG00000100218		0.627	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTDR1	HGNC	protein_coding	OTTHUMT00000319049.1		0.00	28	0	C			23406102	-1			no_errors	ENST00000216036	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.633	T
SAMD9	54809	genome.wustl.edu	37	7	92732292	92732292	+	Missense_Mutation	SNP	C	C	A	rs372955426		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:92732292C>A	ENST00000379958.2	-	3	3388	c.3119G>T	c.(3118-3120)cGc>cTc	p.R1040L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R1040L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCATCGCGGTGTCTTGT	0.363																																																	1	Substitution - Missense(1)	ovary(1)											113.0	101.0	105.0					7																	92732292		2203	4300	6503	SO:0001583	missense	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3119G>T	7.37:g.92732292C>A	ENSP00000369292:p.Arg1040Leu		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.R1040L	ENST00000379958.2	37	c.3119	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492753	0.26774	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.46	2.64	0.31445	.	0.179206	0.27164	N	0.020622	T	0.32010	0.0815	L	0.55990	1.75	0.09310	N	1	D	0.59767	0.986	P	0.53266	0.722	T	0.07028	-1.0794	10	0.72032	D	0.01	-0.2488	7.5755	0.27933	0.0:0.7234:0.0:0.2766	.	1040	Q5K651	SAMD9_HUMAN	L	1040	ENSP00000369292:R1040L;ENSP00000414529:R1040L	ENSP00000369292:R1040L	R	-	2	0	SAMD9	92570228	0.431000	0.25546	0.077000	0.20336	0.333000	0.28666	0.937000	0.28951	1.249000	0.43950	0.609000	0.83330	CGC	SAMD9	-	NULL	ENSG00000205413		0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1		0.00	33	0	C	NM_017654		92732292	-1			no_errors	ENST00000379958	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.026	A
NTN5	126147	genome.wustl.edu	37	19	49170681	49170681	+	Intron	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:49170681G>T	ENST00000270235.4	-	3	727				SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCCAGGCCCTGTCCAGGCCCA	0.607																																																	0																																										SO:0001627	intron_variant	0				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.632-2657C>A	19.37:g.49170681G>T			Q8N4X9|Q8WU63	RNA	SNP	-	NULL	ENST00000270235.4	37	NULL	CCDS33068.1	19																																																																																			SEC1P	-	-	ENSG00000232871		0.607	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC1P	HGNC	protein_coding	OTTHUMT00000466176.1		0.00	22	0	G	NM_145807		49170681	+1			no_errors	ENST00000430145	ensembl	human	known	74_37	rna	22.73	17	5	SNP	0.001	T
SEMG2	6407	genome.wustl.edu	37	20	43851851	43851851	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:43851851G>A	ENST00000372769.3	+	2	1668	c.1578G>A	c.(1576-1578)aaG>aaA	p.K526K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	526	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAAAAGGAAAGTCTGGTCAAT	0.378																																																	0													93.0	81.0	85.0					20																	43851851		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1578G>A	20.37:g.43851851G>A			Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	pfam_Semenogelin	p.K526	ENST00000372769.3	37	c.1578	CCDS13346.1	20																																																																																			SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.378	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1		0.00	28	0	G	NM_003008		43851851	+1			no_errors	ENST00000372769	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.000	A
SERINC1	57515	genome.wustl.edu	37	6	122768322	122768322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:122768322C>T	ENST00000339697.4	-	8	1023	c.939G>A	c.(937-939)tgG>tgA	p.W313*		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	313					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CTTGAGCATGCCACCACTGGA	0.358																																																	0													214.0	204.0	207.0					6																	122768322		2203	4300	6503	SO:0001587	stop_gained	0			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.939G>A	6.37:g.122768322C>T	ENSP00000342962:p.Trp313*		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Nonsense_Mutation	SNP	pfam_TMS_TDE	p.W313*	ENST00000339697.4	37	c.939	CCDS5125.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.228281	0.97394	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7019	19.5294	0.95222	0.0:1.0:0.0:0.0	.	.	.	.	X	313	.	ENSP00000342962:W313X	W	-	3	0	SERINC1	122810021	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	TGG	SERINC1	-	pfam_TMS_TDE	ENSG00000111897		0.358	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC1	HGNC	protein_coding	OTTHUMT00000042031.2		0.00	46	0	C	NM_020755		122768322	-1			no_errors	ENST00000339697	ensembl	human	known	74_37	nonsense	13.79	25	4	SNP	1.000	T
SERPINA4	5267	genome.wustl.edu	37	14	95033574	95033574	+	Missense_Mutation	SNP	G	G	A	rs540841872		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:95033574G>A	ENST00000557004.1	+	3	1338	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R306Q|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R306Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	306					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AACTTGTTGCGGAAGAGGTAA	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		21423	0.001		0.0	False		,,,				2504	0.0																0													79.0	79.0	79.0					14																	95033574		2203	4300	6503	SO:0001583	missense	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.917G>A	14.37:g.95033574G>A	ENSP00000450838:p.Arg306Gln		Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R306Q	ENST00000557004.1	37	c.917	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	A	1.908	-0.451503	0.04572	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84370	-1.84;-1.84;-1.84	4.56	-2.08	0.07254	Serpin domain (3);	2.512550	0.01659	N	0.025009	T	0.69378	0.3104	N	0.11154	0.105	0.09310	N	1	B;B	0.25486	0.029;0.127	B;B	0.21708	0.019;0.036	T	0.64351	-0.6428	10	0.02654	T	1	.	10.5856	0.45280	0.5105:0.0:0.4895:0.0	.	306;306	B2R815;P29622	.;KAIN_HUMAN	Q	306	ENSP00000450838:R306Q;ENSP00000451172:R306Q;ENSP00000298841:R306Q	ENSP00000298841:R306Q	R	+	2	0	SERPINA4	94103327	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-1.311000	0.02723	-1.052000	0.03222	-1.327000	0.01280	CGG	SERPINA4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000100665		0.438	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1		0.00	29	0	G	NM_006215		95033574	+1			no_errors	ENST00000298841	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.000	A
SIGLEC1	6614	genome.wustl.edu	37	20	3677836	3677836	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:3677836A>G	ENST00000344754.4	-	9	2275	c.2276T>C	c.(2275-2277)gTg>gCg	p.V759A	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V759A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	759	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CAGCAGTGTCACGGTCTCCAG	0.622																																																	0													86.0	84.0	84.0					20																	3677836		2203	4300	6503	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2276T>C	20.37:g.3677836A>G	ENSP00000341141:p.Val759Ala		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V759A	ENST00000344754.4	37	c.2276	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798239	0.31777	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12774	2.65;2.65	5.31	5.31	0.75309	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.325180	0.05410	N	0.542333	T	0.20740	0.0499	L	0.60455	1.87	0.09310	N	1	P;B	0.37122	0.583;0.338	B;B	0.37198	0.243;0.073	T	0.29852	-0.9998	10	0.87932	D	0	.	11.5683	0.50818	1.0:0.0:0.0:0.0	.	759;759	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	A	759	ENSP00000341141:V759A;ENSP00000202578:V759A	ENSP00000202578:V759A	V	-	2	0	SIGLEC1	3625836	0.006000	0.16342	0.136000	0.22124	0.178000	0.23041	2.224000	0.42945	2.227000	0.72691	0.459000	0.35465	GTG	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000088827		0.622	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2		0.00	58	0	A	NM_023068		3677836	-1			no_errors	ENST00000344754	ensembl	human	known	74_37	missense	33.33	33	17	SNP	0.037	G
SIRT2	22933	genome.wustl.edu	37	19	39370089	39370089	+	Silent	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:39370089C>T	ENST00000249396.7	-	15	1300	c.999G>A	c.(997-999)gaG>gaA	p.E333E	RINL_ENST00000340740.3_5'Flank|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000392081.2_Silent_p.E296E|RINL_ENST00000598904.1_5'Flank|SIRT2_ENST00000358931.5_3'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	333	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			ATCCAAGGAGCTCAGCAAGGG	0.667																																																	0													29.0	27.0	27.0					19																	39370089		2200	4299	6499	SO:0001819	synonymous_variant	0			AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.999G>A	19.37:g.39370089C>T			A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Silent	SNP	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.E333	ENST00000249396.7	37	c.999	CCDS12523.1	19																																																																																			SIRT2	-	pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	ENSG00000068903		0.667	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRT2	HGNC	protein_coding	OTTHUMT00000318278.1		0.00	24	0	C			39370089	-1			no_errors	ENST00000249396	ensembl	human	known	74_37	silent	44.44	10	8	SNP	1.000	T
SLC22A12	116085	genome.wustl.edu	37	11	64359361	64359361	+	Silent	SNP	C	C	T	rs146095398		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:64359361C>T	ENST00000377574.1	+	1	1080	c.333C>T	c.(331-333)gcC>gcT	p.A111A	SLC22A12_ENST00000336464.7_Silent_p.A111A|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Silent_p.A111A|SLC22A12_ENST00000377572.1_Silent_p.A111A	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	111					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GGAGCGAGGCCGACACGGAGC	0.682																																																	0								T	,	2,4400	4.2+/-10.8	0,2,2199	31.0	35.0	34.0		333,	-8.8	0.0	11	dbSNP_134	34	0,8594		0,0,4297	no	coding-synonymous,utr-5	SLC22A12	NM_144585.2,NM_153378.1	,	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	,	111/554,	64359361	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	0			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.333C>T	11.37:g.64359361C>T			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A111	ENST00000377574.1	37	c.333	CCDS8075.1	11																																																																																			SLC22A12	-	pfscan_MFS_dom	ENSG00000197891		0.682	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2		0.00	29	0	C	NM_144585		64359361	+1			no_errors	ENST00000377574	ensembl	human	known	74_37	silent	50.00	13	13	SNP	0.000	T
SLC30A1	7779	genome.wustl.edu	37	1	211748878	211748878	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:211748878G>T	ENST00000367001.4	-	2	1505	c.1376C>A	c.(1375-1377)gCa>gAa	p.A459E		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	459					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		GGTCTTTTCTGCATCCTTTCC	0.453																																																	0													107.0	108.0	108.0					1																	211748878		2203	4300	6503	SO:0001583	missense	0			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.1376C>A	1.37:g.211748878G>T	ENSP00000355968:p.Ala459Glu		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A459E	ENST00000367001.4	37	c.1376	CCDS1499.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899907	0.33535	.	.	ENSG00000170385	ENST00000367001	T	0.63096	-0.02	5.24	3.34	0.38264	.	1.091970	0.06996	N	0.822365	T	0.43433	0.1247	N	0.19112	0.55	0.34563	D	0.712576	B	0.27559	0.181	B	0.20767	0.031	T	0.32455	-0.9906	10	0.02654	T	1	0.1058	11.0662	0.47976	0.0706:0.1286:0.8007:0.0	.	459	Q9Y6M5	ZNT1_HUMAN	E	459	ENSP00000355968:A459E	ENSP00000355968:A459E	A	-	2	0	SLC30A1	209815501	0.992000	0.36948	0.994000	0.49952	0.980000	0.70556	2.059000	0.41384	0.568000	0.29311	0.563000	0.77884	GCA	SLC30A1	-	NULL	ENSG00000170385		0.453	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A1	HGNC	protein_coding	OTTHUMT00000104738.2		0.00	58	0	G			211748878	-1			no_errors	ENST00000367001	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
SLC9A5	6553	genome.wustl.edu	37	16	67286504	67286504	+	Silent	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:67286504C>T	ENST00000299798.11	+	2	312	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	83					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCTGATTTTGCTGGGCCTGGT	0.512																																																	0													138.0	137.0	138.0					16																	67286504		2006	4168	6174	SO:0001819	synonymous_variant	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.247C>T	16.37:g.67286504C>T			A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L83	ENST00000299798.11	37	c.247	CCDS42178.1	16																																																																																			SLC9A5	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000135740		0.512	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1		0.00	93	0	C			67286504	+1			no_errors	ENST00000299798	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T
SLC9A7P1	121456	genome.wustl.edu	37	12	98848935	98848935	+	RNA	SNP	A	A	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr12:98848935A>G	ENST00000554295.1	-	0	1988					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		TCAGACATCAAGCTAGCAAGC	0.557																																																	0																																												0					12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98848935A>G				RNA	SNP	-	NULL	ENST00000554295.1	37	NULL		12																																																																																			SLC9A7P1	-	-	ENSG00000227825		0.557	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	SLC9A7P1	HGNC	pseudogene	OTTHUMT00000409869.1		0.00	53	0	A			98848935	-1			no_errors	ENST00000554295	ensembl	human	putative	74_37	rna	8.16	45	4	SNP	0.980	G
SLFN14	342618	genome.wustl.edu	37	17	33884643	33884643	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:33884643G>A	ENST00000415846.3	-	1	474	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	147							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						AGAAGCTCCAGGGCACTGCTA	0.483																																																	0													52.0	38.0	42.0					17																	33884643		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.439C>T	17.37:g.33884643G>A			B2RTW9	Silent	SNP	pfam_ATPase_AAA-4,superfamily_P-loop_NTPase	p.L147	ENST00000415846.3	37	c.439	CCDS45650.1	17																																																																																			SLFN14	-	NULL	ENSG00000236320		0.483	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN14	HGNC	protein_coding	OTTHUMT00000448928.1		0.00	35	0	G	NM_001129820		33884643	-1			no_errors	ENST00000415846	ensembl	human	known	74_37	silent	25.00	36	12	SNP	0.994	A
SMG7	9887	genome.wustl.edu	37	1	183520015	183520015	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:183520015G>A	ENST00000347615.2	+	20	3232	c.3113G>A	c.(3112-3114)aGg>aAg	p.R1038K	SMG7_ENST00000515829.2_Missense_Mutation_p.R992K|SMG7_ENST00000508461.1_Missense_Mutation_p.R1046K|SMG7_ENST00000367537.3_Missense_Mutation_p.R1071K|SMG7_ENST00000507469.1_Missense_Mutation_p.R1042K|SMG7_ENST00000456731.2_Missense_Mutation_p.R950K	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1038					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCAGATAACAGGGATAGAAGG	0.453																																																	0													97.0	94.0	95.0					1																	183520015		2203	4300	6503	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3113G>A	1.37:g.183520015G>A	ENSP00000340766:p.Arg1038Lys		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.R1042K	ENST00000347615.2	37	c.3125	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840410	0.91197	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.33438	1.44;1.47;1.42;1.51;1.41;1.41	5.45	4.53	0.55603	.	0.100565	0.64402	D	0.000002	T	0.42154	0.1190	L	0.29908	0.895	0.48511	D	0.999669	D;D;D;D;D	0.58268	0.982;0.982;0.974;0.982;0.982	D;D;D;D;D	0.70487	0.952;0.952;0.969;0.952;0.952	T	0.16928	-1.0386	10	0.22706	T	0.39	-12.6283	16.7134	0.85391	0.0:0.1294:0.8706:0.0	.	1046;950;992;1038;1042	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	K	950;1071;1046;1038;1042;992	ENSP00000407629:R950K;ENSP00000356507:R1071K;ENSP00000426915:R1046K;ENSP00000340766:R1038K;ENSP00000425133:R1042K;ENSP00000421358:R992K	ENSP00000340766:R1038K	R	+	2	0	SMG7	181786638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.932000	0.92897	1.425000	0.47237	0.650000	0.86243	AGG	SMG7	-	NULL	ENSG00000116698		0.453	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1		0.00	29	0	G	NM_014837		183520015	+1			no_errors	ENST00000507469	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A
SNTG1	54212	genome.wustl.edu	37	8	51465644	51465644	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr8:51465644G>A	ENST00000522124.1	+	12	1376	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	SNTG1_ENST00000276467.5_Missense_Mutation_p.V239I|SNTG1_ENST00000517473.1_Missense_Mutation_p.V239I|SNTG1_ENST00000518864.1_Missense_Mutation_p.V239I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	239					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGTGGATGGGGTCTGCACTGG	0.428																																																	0													154.0	130.0	138.0					8																	51465644		2203	4300	6503	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.715G>A	8.37:g.51465644G>A	ENSP00000429842:p.Val239Ile		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.V239I	ENST00000522124.1	37	c.715	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146593	0.37923	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.2	5.2	0.72013	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54323	1.7	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.14578	0.011;0.002	T	0.42899	-0.9424	10	0.23891	T	0.37	.	17.7901	0.88550	0.0:0.0:1.0:0.0	.	239;239	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	239	ENSP00000429276:V239I;ENSP00000429842:V239I;ENSP00000431123:V239I;ENSP00000276467:V239I	ENSP00000276467:V239I	V	+	1	0	SNTG1	51628197	1.000000	0.71417	0.976000	0.42696	0.392000	0.30506	7.031000	0.76491	2.437000	0.82529	0.558000	0.71614	GTC	SNTG1	-	smart_Pleckstrin_homology	ENSG00000147481		0.428	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1		0.00	50	0	G			51465644	+1			no_errors	ENST00000518864	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A
SPATA17	128153	genome.wustl.edu	37	1	217856603	217856603	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:217856603C>A	ENST00000366933.4	+	5	350	c.295C>A	c.(295-297)Cag>Aag	p.Q99K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	99	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTAATAGATTCAGAGACGATG	0.313																																																	0													77.0	91.0	86.0					1																	217856603		2193	4298	6491	SO:0001583	missense	0			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.295C>A	1.37:g.217856603C>A	ENSP00000355900:p.Gln99Lys		A5D6N2	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q99K	ENST00000366933.4	37	c.295	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667929	0.67814	.	.	ENSG00000162814	ENST00000366933	D	0.86297	-2.1	5.43	5.43	0.79202	.	0.057404	0.64402	D	0.000001	D	0.94387	0.8195	M	0.86028	2.79	0.48236	D	0.999614	D	0.89917	1.0	D	0.91635	0.999	D	0.94913	0.8066	10	0.87932	D	0	-26.3626	19.2545	0.93940	0.0:1.0:0.0:0.0	.	99	Q96L03	SPT17_HUMAN	K	99	ENSP00000355900:Q99K	ENSP00000355900:Q99K	Q	+	1	0	SPATA17	215923226	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	6.134000	0.71689	2.537000	0.85549	0.555000	0.69702	CAG	SPATA17	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000162814		0.313	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2		0.00	89	0	C	NM_138796		217856603	+1			no_errors	ENST00000366933	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A
SRXN1	140809	genome.wustl.edu	37	20	629463	629463	+	Silent	SNP	C	C	T	rs371093339		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr20:629463C>T	ENST00000381962.3	-	2	493	c.309G>A	c.(307-309)gcG>gcA	p.A103A	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	103					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GCTGGTAGGCCGCGTAGCGGT	0.612																																																	0								C		0,4406		0,0,2203	84.0	83.0	83.0		309	-8.5	0.4	20		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SRXN1	NM_080725.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		103/138	629463	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.309G>A	20.37:g.629463C>T			B2R543|Q8NDM3|Q96AK6	Silent	SNP	pfam_ParB/Sulfiredoxin_dom,superfamily_ParB/Sulfiredoxin_dom,smart_ParB/Sulfiredoxin_dom,pirsf_Sulfiredoxin	p.A103	ENST00000381962.3	37	c.309	CCDS13005.1	20																																																																																			SRXN1	-	pfam_ParB/Sulfiredoxin_dom,superfamily_ParB/Sulfiredoxin_dom,smart_ParB/Sulfiredoxin_dom,pirsf_Sulfiredoxin	ENSG00000271303		0.612	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRXN1	HGNC	protein_coding	OTTHUMT00000077479.2		0.00	56	0	C	NM_080725		629463	-1			no_errors	ENST00000381962	ensembl	human	known	74_37	silent	38.24	42	26	SNP	0.435	T
STON2	85439	genome.wustl.edu	37	14	81743273	81743273	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr14:81743273C>G	ENST00000267540.2	-	4	2582	c.2382G>C	c.(2380-2382)agG>agC	p.R794S	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.R794S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	794	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTCGGTTTATCCTCCACACAA	0.473																																																	0													126.0	123.0	124.0					14																	81743273		2203	4300	6503	SO:0001583	missense	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2382G>C	14.37:g.81743273C>G	ENSP00000267540:p.Arg794Ser		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.R794S	ENST00000267540.2	37	c.2382	CCDS9875.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.12|16.12	3.034269|3.034269	0.54896|0.54896	.|.	.|.	ENSG00000140022|ENSG00000140022	ENST00000553821|ENST00000555447;ENST00000546306;ENST00000267540	.|T;T	.|0.18960	.|2.18;2.18	5.92|5.92	5.03|5.03	0.67393|0.67393	.|Clathrin adaptor, mu subunit, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41650|0.41650	0.1168|0.1168	L|L	0.58302|0.58302	1.8|1.8	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.15122|0.15122	-1.0448|-1.0448	5|10	.|0.87932	.|D	.|0	-24.2578|-24.2578	12.7925|12.7925	0.57541|0.57541	0.0:0.8717:0.0:0.1283|0.0:0.8717:0.0:0.1283	.|.	.|794;794	.|Q8WXE9;G3V2T7	.|STON2_HUMAN;.	A|S	2|794;806;794	.|ENSP00000450857:R794S;ENSP00000267540:R794S	.|ENSP00000267540:R794S	G|R	-|-	2|3	0|2	STON2|STON2	80813026|80813026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.090000|2.090000	0.41682|0.41682	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GGA|AGG	STON2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C	ENSG00000140022		0.473	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1		0.00	56	0	C	NM_033104		81743273	-1			no_errors	ENST00000267540	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	G
STX1A	6804	genome.wustl.edu	37	7	73118551	73118551	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:73118551C>A	ENST00000222812.3	-	6	419	c.393G>T	c.(391-393)atG>atT	p.M131I	STX1A_ENST00000395156.3_Missense_Mutation_p.M131I|STX1A_ENST00000395155.3_Missense_Mutation_p.M131I|WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Missense_Mutation_p.M131I	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	131					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGTACTCCGACATGACCTCCA	0.667																																																	0													49.0	45.0	47.0					7																	73118551		2203	4300	6503	SO:0001583	missense	0				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.393G>T	7.37:g.73118551C>A	ENSP00000222812:p.Met131Ile		O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.M131I	ENST00000222812.3	37	c.393	CCDS34655.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021076	0.93462	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.38	4.38	0.52667	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.73598	2.24	0.80722	D	1	P;P;P	0.52316	0.948;0.78;0.952	P;B;P	0.57425	0.791;0.41;0.82	T	0.24512	-1.0158	10	0.41790	T;T	0.15;0.15	-52.953	14.4852	0.67611	0.0:1.0:0.0:0.0	.	131;131;131	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	I	40;131;131;131;131	ENSP00000222812:M131I;ENSP00000378585:M131I;ENSP00000378583:M131I;ENSP00000378584:M131I	ENSP00000222812:M131I;ENSP00000222812:M131I	M	-	3	0	STX1A	72756487	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.608000	0.82898	2.279000	0.76181	0.455000	0.32223	ATG	STX1A	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N	ENSG00000106089		0.667	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1A	HGNC	protein_coding	OTTHUMT00000268422.1		0.00	38	0	C	NM_004603		73118551	-1			no_errors	ENST00000222812	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	A
STXBP1	6812	genome.wustl.edu	37	9	130428493	130428493	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr9:130428493G>T	ENST00000373299.1	+	9	827	c.712G>T	c.(712-714)Gac>Tac	p.D238Y	STXBP1_ENST00000373302.3_Missense_Mutation_p.D238Y	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	238					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.D238H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCGAGGCTTTGACCCCAGCTC	0.517																																																	2	Substitution - Missense(2)	lung(2)											111.0	96.0	101.0					9																	130428493		2203	4300	6503	SO:0001583	missense	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.712G>T	9.37:g.130428493G>T	ENSP00000362396:p.Asp238Tyr		B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D238Y	ENST00000373299.1	37	c.712	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937227	0.92458	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	D;D	0.96491	-4.03;-4.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99470	1.0945	10	0.87932	D	0	-15.9351	17.3903	0.87428	0.0:0.0:1.0:0.0	.	238;238	P61764;P61764-2	STXB1_HUMAN;.	Y	192;238;70;238	ENSP00000362399:D238Y;ENSP00000362396:D238Y	ENSP00000362396:D238Y	D	+	1	0	STXBP1	129468314	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.758000	0.98927	2.717000	0.92951	0.655000	0.94253	GAC	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136854		0.517	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1		0.00	32	0	G	NM_003165		130428493	+1			no_errors	ENST00000373299	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T
TACR2	6865	genome.wustl.edu	37	10	71166848	71166848	+	Silent	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:71166848G>A	ENST00000373306.4	-	4	1473	c.930C>T	c.(928-930)ctC>ctT	p.L310L	TACR2_ENST00000373307.1_Silent_p.L98L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	310					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						ACCTGTGGTTGAGACAGCAGT	0.592																																																	0													163.0	142.0	149.0					10																	71166848		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.930C>T	10.37:g.71166848G>A			A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L310	ENST00000373306.4	37	c.930	CCDS7293.1	10																																																																																			TACR2	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000075073		0.592	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR2	HGNC	protein_coding	OTTHUMT00000048411.1		0.00	47	0	G			71166848	-1			no_errors	ENST00000373306	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.990	A
TADA2B	93624	genome.wustl.edu	37	4	7056529	7056529	+	Silent	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr4:7056529C>T	ENST00000310074.7	+	2	1200	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	TADA2B_ENST00000515646.1_Silent_p.S245S|TADA2B_ENST00000512388.1_Silent_p.S262S	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	337					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GCAAAGACAGCGAGTTCGCCG	0.567																																																	0													66.0	75.0	72.0					4																	7056529		1990	4155	6145	SO:0001819	synonymous_variant	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1011C>T	4.37:g.7056529C>T			A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.S337	ENST00000310074.7	37	c.1011	CCDS47007.1	4																																																																																			TADA2B	-	superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.567	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2		0.00	16	0	C	NM_152293		7056529	+1			no_errors	ENST00000310074	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.906	T
TBC1D24	57465	genome.wustl.edu	37	16	2548298	2548298	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:2548298G>T	ENST00000293970.5	+	4	1176	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Missense_Mutation_p.R348M|TBC1D24_ENST00000567020.1_Missense_Mutation_p.R342M	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	348					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GTCAGCGTGAGGGAGATGAGA	0.632																																																	0													58.0	67.0	64.0					16																	2548298		2128	4249	6377	SO:0001583	missense	0			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1043G>T	16.37:g.2548298G>T	ENSP00000293970:p.Arg348Met		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.R348M	ENST00000293970.5	37	c.1043	CCDS55980.1	16	.	.	.	.	.	.	.	.	.	.	G	9.864	1.197111	0.22037	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.23552	1.9	5.6	3.39	0.38822	TLDc (1);	0.096346	0.64402	D	0.000001	T	0.18002	0.0432	L	0.29908	0.895	0.34207	D	0.673795	B;B	0.20887	0.029;0.049	B;B	0.17722	0.008;0.019	T	0.11155	-1.0599	10	0.72032	D	0.01	-35.8053	8.3671	0.32393	0.8357:0.0:0.1643:0.0	.	348;342	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	M	342;348	ENSP00000390106:R348M	ENSP00000293970:R342M	R	+	2	0	TBC1D24	2488299	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.286000	0.58995	0.432000	0.26286	-0.312000	0.09012	AGG	TBC1D24	-	smart_TLDc	ENSG00000162065		0.632	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1		0.00	42	0	G	NM_020705		2548298	+1			no_errors	ENST00000293970	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T
TES	26136	genome.wustl.edu	37	7	115890525	115890525	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:115890525C>A	ENST00000358204.4	+	4	892	c.677C>A	c.(676-678)tCt>tAt	p.S226Y	AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.S217Y|TES_ENST00000537767.1_Intron	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	226					negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAGGACAAATCTGCTGAGCAC	0.438																																																	0													60.0	64.0	62.0					7																	115890525		2203	4300	6503	SO:0001583	missense	0			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.677C>A	7.37:g.115890525C>A	ENSP00000350937:p.Ser226Tyr		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S226Y	ENST00000358204.4	37	c.677	CCDS5763.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.09|16.09	3.024672|3.024672	0.54683|0.54683	.|.	.|.	ENSG00000135269|ENSG00000135269	ENST00000393484|ENST00000358204;ENST00000257721;ENST00000393481	.|T;T	.|0.60920	.|0.15;0.15	5.39|5.39	4.51|4.51	0.55191|0.55191	.|.	.|0.488607	.|0.20765	.|N	.|0.086086	T|T	0.36054|0.36054	0.0953|0.0953	N|N	0.08118|0.08118	0|0	0.23095|0.23095	N|N	0.998303|0.998303	.|B	.|0.12013	.|0.005	.|B	.|0.14023	.|0.01	T|T	0.31223|0.31223	-0.9951|-0.9951	5|10	.|0.87932	.|D	.|0	-1.7134|-1.7134	8.9728|8.9728	0.35917|0.35917	0.0:0.7775:0.0:0.2225|0.0:0.7775:0.0:0.2225	.|.	.|226	.|Q9UGI8	.|TES_HUMAN	M|Y	13|226;226;217	.|ENSP00000350937:S226Y;ENSP00000377121:S217Y	.|ENSP00000257721:S226Y	L|S	+|+	1|2	2|0	TES|TES	115677761|115677761	0.004000|0.004000	0.15560|0.15560	0.004000|0.004000	0.12327|0.12327	0.052000|0.052000	0.14988|0.14988	0.649000|0.649000	0.24843|0.24843	1.421000|1.421000	0.47157|0.47157	0.655000|0.655000	0.94253|0.94253	CTG|TCT	TES	-	NULL	ENSG00000135269		0.438	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2		0.00	37	0	C	NM_015641		115890525	+1			no_errors	ENST00000358204	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.017	A
TP53	7157	genome.wustl.edu	37	17	7576873	7576873	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:7576873C>A	ENST00000269305.4	-	9	1162	c.973G>T	c.(973-975)Gga>Tga	p.G325*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.G325*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G325*|TP53_ENST00000445888.2_Nonsense_Mutation_p.G325*|TP53_ENST00000420246.2_Nonsense_Mutation_p.G325*|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	325	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation; dbSNP:rs28934271). {ECO:0000269|PubMed:1565144}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G325*(1)|p.G325fs*23(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAATATTCTCCATCCAGTGGT	0.438		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	11	Whole gene deletion(8)|Substitution - Nonsense(1)|Unknown(1)|Complex - frameshift(1)	bone(4)|urinary_tract(2)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)											126.0	117.0	120.0					17																	7576873		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.973G>T	17.37:g.7576873C>A	ENSP00000269305:p.Gly325*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G325*	ENST00000269305.4	37	c.973	CCDS11118.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.174165|6.174165	0.97348|0.97348	.|.	.|.	ENSG00000141510|ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690|ENST00000419024	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.647870|.	0.16297|.	N|.	0.220624|.	.|T	.|0.70159	.|0.3192	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78211	.|-0.2292	.|4	0.59425|0.87932	D|D	0.04|0	-0.9501|-0.9501	14.0188|14.0188	0.64541|0.64541	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	325;325;325;325;325;314;193|11	.|.	ENSP00000269305:G325X|ENSP00000402130:M11I	G|M	-|-	1|3	0|0	TP53|TP53	7517598|7517598	0.959000|0.959000	0.32827|0.32827	0.998000|0.998000	0.56505|0.56505	0.955000|0.955000	0.61496|0.61496	4.051000|4.051000	0.57412|0.57412	2.688000|2.688000	0.91661|0.91661	0.561000|0.561000	0.74099|0.74099	GGA|ATG	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn	ENSG00000141510		0.438	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	63	0	C	NM_000546		7576873	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	30.00	35	15	SNP	1.000	A
TRIM45	80263	genome.wustl.edu	37	1	117661118	117661118	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:117661118C>A	ENST00000256649.4	-	2	1286	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	TRIM45_ENST00000369461.3_Nonsense_Mutation_p.E197*|TRIM45_ENST00000369464.3_Nonsense_Mutation_p.E254*	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	254					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E254K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GCCAGGGCTTCCTCCAGGGCC	0.572																																																	1	Substitution - Missense(1)	NS(1)											60.0	61.0	61.0					1																	117661118		2203	4300	6503	SO:0001587	stop_gained	0				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.760G>T	1.37:g.117661118C>A	ENSP00000256649:p.Glu254*		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Nonsense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING	p.E254*	ENST00000256649.4	37	c.760	CCDS893.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.675924	0.97755	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	.	.	.	5.32	3.3	0.37823	.	0.441460	0.26293	N	0.025215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-11.2626	11.8385	0.52340	0.0:0.8364:0.0:0.1636	.	.	.	.	X	254;254;197	.	ENSP00000256649:E254X	E	-	1	0	TRIM45	117462641	0.986000	0.35501	0.896000	0.35187	0.269000	0.26545	2.765000	0.47621	1.473000	0.48159	0.655000	0.94253	GAA	TRIM45	-	smart_Bbox_C	ENSG00000134253		0.572	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	HGNC	protein_coding	OTTHUMT00000033503.1		0.00	46	0	C	NM_025188		117661118	-1			no_errors	ENST00000256649	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.814	A
TUBA8	51807	genome.wustl.edu	37	22	18613616	18613616	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr22:18613616A>G	ENST00000330423.3	+	5	1136	c.1063A>G	c.(1063-1065)Atc>Gtc	p.I355V	TUBA8_ENST00000316027.6_Missense_Mutation_p.I289V	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	355					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TCAGGTGGGCATCAACTACCA	0.607																																																	0													35.0	38.0	37.0					22																	18613616		2203	4299	6502	SO:0001583	missense	0			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.1063A>G	22.37:g.18613616A>G	ENSP00000333326:p.Ile355Val		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.I355V	ENST00000330423.3	37	c.1063	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	17.73	3.461514	0.63513	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.81821	-1.54;-1.54;-1.54	5.29	5.29	0.74685	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.052440	0.85682	D	0.000000	D	0.87071	0.6086	M	0.70275	2.135	0.58432	D	0.999995	B;P;B	0.42785	0.433;0.79;0.02	P;P;B	0.55455	0.776;0.742;0.074	D	0.88485	0.3071	10	0.87932	D	0	.	14.7158	0.69269	1.0:0.0:0.0:0.0	.	289;379;355	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	V	289;355;379	ENSP00000318575:I289V;ENSP00000333326:I355V;ENSP00000412646:I379V	ENSP00000318575:I289V	I	+	1	0	TUBA8	16993616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.123000	0.65237	0.533000	0.62120	ATC	TUBA8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000183785		0.607	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3		0.00	36	0	A	NM_018943		18613616	+1			no_errors	ENST00000330423	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	G
TULP1	7287	genome.wustl.edu	37	6	35477490	35477490	+	Silent	SNP	T	T	C			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr6:35477490T>C	ENST00000229771.6	-	7	718	c.639A>G	c.(637-639)ccA>ccG	p.P213P	TULP1_ENST00000322263.4_Silent_p.P160P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	213					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCGCACTGGCTGGGCTCCCTG	0.602																																					GBM(55;1027 1091 11115 23439)												0													96.0	98.0	97.0					6																	35477490		2203	4300	6503	SO:0001819	synonymous_variant	0			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.639A>G	6.37:g.35477490T>C			O43536|Q5TGM5|Q8N571	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	p.P213	ENST00000229771.6	37	c.639	CCDS4807.1	6																																																																																			TULP1	-	NULL	ENSG00000112041		0.602	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP1	HGNC	protein_coding	OTTHUMT00000040307.2		0.00	58	0	T			35477490	-1			no_errors	ENST00000229771	ensembl	human	known	74_37	silent	48.00	26	24	SNP	0.000	C
UGT3A1	133688	genome.wustl.edu	37	5	35954308	35954308	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr5:35954308G>A	ENST00000274278.3	-	7	1925	c.1568C>T	c.(1567-1569)aCa>aTa	p.T523I	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	523						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTAGCCTCATGTCTTCTTCAC	0.607																																																	0													85.0	74.0	78.0					5																	35954308		2203	4300	6503	SO:0001583	missense	0				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1568C>T	5.37:g.35954308G>A	ENSP00000274278:p.Thr523Ile		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T523I	ENST00000274278.3	37	c.1568	CCDS3913.1	5	.	.	.	.	.	.	.	.	.	.	.	13.34	2.208545	0.39003	.	.	ENSG00000145626	ENST00000274278	T	0.60040	0.22	3.76	0.904	0.19302	.	11.559400	0.01753	U	0.030043	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	P	0.51791	0.948	P	0.45037	0.467	T	0.42120	-0.9470	10	0.87932	D	0	.	7.0543	0.25091	0.3117:0.0:0.6883:0.0	.	523	Q6NUS8	UD3A1_HUMAN	I	523	ENSP00000274278:T523I	ENSP00000274278:T523I	T	-	2	0	UGT3A1	35990065	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.032000	0.13732	0.038000	0.15604	0.411000	0.27672	ACA	UGT3A1	-	NULL	ENSG00000145626		0.607	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	HGNC	protein_coding	OTTHUMT00000253770.2		0.00	37	0	G	NM_152404		35954308	-1			no_errors	ENST00000274278	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.000	A
UNC93B1	81622	genome.wustl.edu	37	11	67759196	67759196	+	Missense_Mutation	SNP	A	A	C	rs2375178		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr11:67759196A>C	ENST00000227471.2	-	12	1691	c.1612T>G	c.(1612-1614)Tac>Gac	p.Y538D	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	539					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.Y538D(1)									AAGTAGCGGTAACCGCGCACC	0.756																																																	1	Substitution - Missense(1)	central_nervous_system(1)											1.0	1.0	1.0					11																	67759196		520	1233	1753	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1612T>G	11.37:g.67759196A>C	ENSP00000227471:p.Tyr538Asp		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.Y538D	ENST00000227471.2	37	c.1612		11	.	.	.	.	.	.	.	.	.	.	.	16.53	3.149028	0.57151	.	.	ENSG00000110057	ENST00000227471	T	0.07908	3.15	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	.	.	.	0.39442	D	0.967255	D	0.76494	0.999	D	0.65233	0.933	T	0.01382	-1.1369	8	.	.	.	-10.7865	12.2398	0.54536	1.0:0.0:0.0:0.0	rs2375178	539	Q9H1C4	UN93B_HUMAN	D	538	ENSP00000227471:Y538D	.	Y	-	1	0	UNC93B1	67515772	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	8.029000	0.88807	1.790000	0.52503	0.402000	0.26972	TAC	UNC93B1	-	NULL	ENSG00000110057		0.756	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding			0.00	18	0	A	NM_030930		67759196	-1			no_errors	ENST00000227471	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	C
UNKL	64718	genome.wustl.edu	37	16	1453325	1453325	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr16:1453325G>A	ENST00000389221.4	-	3	307	c.308C>T	c.(307-309)aCg>aTg	p.T103M	UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000397462.1_Missense_Mutation_p.T190M|UNKL_ENST00000508903.2_Missense_Mutation_p.T103M|UNKL_ENST00000301712.5_Missense_Mutation_p.T103M	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	103					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GTCCCCCGTCGTCCGGTGCAG	0.607																																																	0													186.0	130.0	149.0					16																	1453325		2198	4300	6498	SO:0001583	missense	0			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.308C>T	16.37:g.1453325G>A	ENSP00000373873:p.Thr103Met		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Nonsense_Mutation	SNP	NULL	p.R88*	ENST00000389221.4	37	c.262	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262222	0.39995	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	T	0.68479	-0.33	3.77	3.77	0.43336	.	0.131457	0.49916	D	0.000123	T	0.81489	0.4833	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84199	0.0449	10	0.59425	D	0.04	.	13.5415	0.61676	0.0:0.0:1.0:0.0	.	103	Q9H9P5-5	.	M	103;103;190;103	ENSP00000373873:T103M	ENSP00000301712:T103M	T	-	2	0	UNKL	1393326	1.000000	0.71417	0.467000	0.27180	0.236000	0.25371	9.182000	0.94881	2.114000	0.64651	0.456000	0.33151	ACG	UNKL	-	NULL	ENSG00000059145		0.607	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding			0.00	57	0	G	NM_001037125		1453325	-1			no_errors	ENST00000382757	ensembl	human	known	74_37	nonsense	34.78	30	16	SNP	0.996	A
UPP1	7378	genome.wustl.edu	37	7	48146616	48146616	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr7:48146616G>A	ENST00000331803.4	+	8	1206	c.583G>A	c.(583-585)Gca>Aca	p.A195T	UPP1_ENST00000429491.2_Missense_Mutation_p.A58T|UPP1_ENST00000395564.4_Missense_Mutation_p.A195T|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.A195T			Q16831	UPP1_HUMAN	uridine phosphorylase 1	195					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GCTGTGTTCTGCAGAGCTGAG	0.547																																																	0													126.0	114.0	118.0					7																	48146616		2203	4300	6503	SO:0001583	missense	0			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.583G>A	7.37:g.48146616G>A	ENSP00000330032:p.Ala195Thr		D3DVM4|Q15362	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.A195T	ENST00000331803.4	37	c.583	CCDS5507.1	7	.	.	.	.	.	.	.	.	.	.	G	2.999	-0.206508	0.06180	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.9	-5.1	0.02911	Nucleoside phosphorylase domain (1);	0.944651	0.08907	N	0.876407	T	0.22975	0.0555	L	0.31065	0.9	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.28870	-1.0030	10	0.15952	T	0.53	-0.9228	6.3673	0.21461	0.6842:0.1032:0.105:0.1077	.	58;195	Q86Y75;Q16831	.;UPP1_HUMAN	T	195;195;195;58	ENSP00000330032:A195T;ENSP00000342878:A195T;ENSP00000378931:A195T;ENSP00000406224:A58T	ENSP00000330032:A195T	A	+	1	0	UPP1	48113141	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.225000	0.09151	-0.833000	0.04245	-0.808000	0.03180	GCA	UPP1	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	ENSG00000183696		0.547	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP1	HGNC	protein_coding	OTTHUMT00000251360.1		0.00	26	0	G	NM_003364		48146616	+1			no_errors	ENST00000331803	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.000	A
VN1R1	57191	genome.wustl.edu	37	19	57967350	57967350	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:57967350C>A	ENST00000321039.3	-	1	504	c.505G>T	c.(505-507)Gac>Tac	p.D169Y	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	169					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		CAACAGAAGTCAATAAACCTT	0.458																																																	0													95.0	87.0	90.0					19																	57967350		2203	4300	6503	SO:0001583	missense	0			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.505G>T	19.37:g.57967350C>A	ENSP00000322339:p.Asp169Tyr		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.D169Y	ENST00000321039.3	37	c.505	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	C	8.019	0.759145	0.15846	.	.	ENSG00000178201	ENST00000321039	T	0.09630	2.96	4.24	0.787	0.18596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.26775	0.159	B	0.24394	0.053	T	0.45440	-0.9261	9	0.19147	T	0.46	.	4.328	0.11050	0.1602:0.5947:0.1552:0.0899	.	169	Q9GZP7	VN1R1_HUMAN	Y	169	ENSP00000322339:D169Y	ENSP00000322339:D169Y	D	-	1	0	VN1R1	62659162	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.096000	0.15147	0.165000	0.19558	-0.188000	0.12872	GAC	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000178201		0.458	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1		0.00	42	0	C	NM_020633		57967350	-1			no_errors	ENST00000321039	ensembl	human	known	74_37	missense	6.67	41	3	SNP	0.000	A
VPS72	6944	genome.wustl.edu	37	1	151156966	151156966	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:151156966C>T	ENST00000354473.4	-	4	425	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	130					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATAGACTTCCGACCTGGAAG	0.418																																					Pancreas(109;1131 2287 3209 24201)												0													57.0	54.0	55.0					1																	151156966		2203	4300	6503	SO:0001583	missense	0			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.389G>A	1.37:g.151156966C>T	ENSP00000346464:p.Arg130Gln		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	pfam_YL1,pfam_YL1_C	p.R130Q	ENST00000354473.4	37	c.389	CCDS59201.1	1	.	.	.	.	.	.	.	.	.	.	.	33	5.230029	0.95173	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	6.16	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.92459	3.31	0.80722	D	1	D	0.57899	0.981	P	0.46253	0.509	T	0.78899	-0.2022	9	0.72032	D	0.01	-0.4146	15.4266	0.75055	0.0:0.9331:0.0:0.0669	.	130	Q15906	VPS72_HUMAN	Q	130	.	ENSP00000346464:R130Q	R	-	2	0	VPS72	149423590	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.342000	0.79310	1.623000	0.50342	0.650000	0.86243	CGG	VPS72	-	pfam_YL1	ENSG00000163159		0.418	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3		0.00	21	0	C	NM_005997		151156966	-1			no_errors	ENST00000368892	ensembl	human	known	74_37	missense	13.33	13	2	SNP	1.000	T
WASH3P	374666	genome.wustl.edu	37	15	102506815	102506816	+	RNA	DEL	CC	CC	-	rs151176585		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr15:102506815_102506816delCC	ENST00000557932.1	+	0	172							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						tacctctccacctggagcgcac	0.421																																																	0																																												0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506815_102506816delCC				RNA	DEL	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			WASH3P	-	-	ENSG00000185596		0.421	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1		0.00	10	0	CC	NM_199163		102506816	+1			no_errors	ENST00000559884	ensembl	human	known	74_37	rna	37.50	5	3	DEL	0.000:0.000	0
WDFY4	57705	genome.wustl.edu	37	10	50083134	50083134	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr10:50083134G>T	ENST00000325239.5	+	41	6976	c.6949G>T	c.(6949-6951)Gaa>Taa	p.E2317*	RP11-563N6.6_ENST00000423256.1_RNA|WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2317						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CTTATTTCAGGAAAGCCAAGA	0.328																																																	0													200.0	176.0	183.0					10																	50083134		692	1591	2283	SO:0001630	splice_region_variant	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.6949-1G>T	10.37:g.50083134G>T			B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2317*	ENST00000325239.5	37	c.6949	CCDS44385.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	46|46|46	12.379483|12.379483|12.379483	0.99662|0.99662|0.99662	.|.|.	.|.|.	ENSG00000128815|ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239|ENST00000312002|ENST00000265453	.|.|.	.|.|.	.|.|.	5.94|5.94|5.94	4.1|4.1|4.1	0.47936|0.47936|0.47936	.|.|.	1.240710|.|.	0.05283|.|.	N|.|.	0.519766|.|.	.|T|T	.|0.58892|0.58892	.|0.2154|0.2154	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.54669|0.54669	.|-0.8259|-0.8259	.|4|4	.|.|.	.|.|.	.|.|.	.|.|.	8.8168|8.8168|8.8168	0.35000|0.35000|0.35000	0.1704:0.0:0.8296:0.0|0.1704:0.0:0.8296:0.0|0.1704:0.0:0.8296:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|S	2317|1407|403	.|.|.	.|.|.	E|G|R	+|+|+	1|2|3	0|0|2	WDFY4|WDFY4|WDFY4	49753140|49753140|49753140	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	0.854000|0.854000|0.854000	0.33618|0.33618|0.33618	0.186000|0.186000|0.186000	0.23388|0.23388|0.23388	1.504000|1.504000|1.504000	0.35726|0.35726|0.35726	0.861000|0.861000|0.861000	0.35504|0.35504|0.35504	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAA|GGA|AGG	WDFY4	-	NULL	ENSG00000128815		0.328	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding			0.00	98	0	G	XM_033379	Nonsense_Mutation	50083134	+1			no_errors	ENST00000325239	ensembl	human	known	74_37	nonsense	14.12	73	12	SNP	0.922	T
WDR64	128025	genome.wustl.edu	37	1	241946598	241946598	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr1:241946598C>A	ENST00000366552.2	+	22	2797	c.2590C>A	c.(2590-2592)Cgt>Agt	p.R864S	WDR64_ENST00000437684.2_Missense_Mutation_p.R697S	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	864										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GCTTTCCTGGCGTGCTCATTC	0.373																																																	0													70.0	66.0	67.0					1																	241946598		2203	4300	6503	SO:0001583	missense	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2590C>A	1.37:g.241946598C>A	ENSP00000355510:p.Arg864Ser		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R864S	ENST00000366552.2	37	c.2590		1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690169	0.88735	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.46819	0.86;1.06;0.86	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.102421	0.43416	D	0.000562	T	0.68714	0.3031	M	0.76002	2.32	0.29935	N	0.821535	D;D	0.89917	1.0;0.995	D;P	0.78314	0.991;0.891	T	0.67573	-0.5636	10	0.46703	T	0.11	-6.1842	16.6706	0.85266	0.0:1.0:0.0:0.0	.	864;417	B1ANS9;D1MPS4	WDR64_HUMAN;.	S	864;697;468	ENSP00000355510:R864S;ENSP00000402446:R697S;ENSP00000406656:R468S	ENSP00000355510:R864S	R	+	1	0	WDR64	240013221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.839000	0.39220	2.690000	0.91761	0.655000	0.94253	CGT	WDR64	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162843		0.373	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding			0.00	58	0	C	NM_144625		241946598	+1			no_errors	ENST00000366552	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A
ZDBF2	57683	genome.wustl.edu	37	2	207175899	207175899	+	Missense_Mutation	SNP	G	G	A	rs199913989		TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr2:207175899G>A	ENST00000374423.3	+	5	7033	c.6647G>A	c.(6646-6648)cGg>cAg	p.R2216Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2216							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTTGGATTCGGACCAAACCA	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18930	0.0		0.0	False		,,,				2504	0.0																0								G	GLN/ARG	8,3610		0,8,1801	42.0	42.0	42.0		6647	-1.9	0.0	2		42	1,8163		0,1,4081	yes	missense	ZDBF2	NM_020923.1	43	0,9,5882	AA,AG,GG		0.0122,0.2211,0.0764	benign	2216/2355	207175899	9,11773	1809	4082	5891	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6647G>A	2.37:g.207175899G>A	ENSP00000363545:p.Arg2216Gln		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.R2216Q	ENST00000374423.3	37	c.6647	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	1.839	-0.467877	0.04476	0.002211	1.22E-4	ENSG00000204186	ENST00000374423	T	0.40225	1.04	5.46	-1.9	0.07665	.	.	.	.	.	T	0.10035	0.0246	N	0.00583	-1.355	0.09310	N	1	B	0.24721	0.11	B	0.13407	0.009	T	0.31779	-0.9931	9	0.10377	T	0.69	.	6.7391	0.23424	0.511:0.2261:0.2629:0.0	.	2216	Q9HCK1	ZDBF2_HUMAN	Q	2216	ENSP00000363545:R2216Q	ENSP00000363545:R2216Q	R	+	2	0	ZDBF2	206884144	0.001000	0.12720	0.028000	0.17463	0.069000	0.16628	-0.357000	0.07651	-0.639000	0.05502	-0.150000	0.13652	CGG	ZDBF2	-	NULL	ENSG00000204186		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1		0.00	30	0	G	NM_020923		207175899	+1			no_errors	ENST00000374423	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.000	A
ZNF468	90333	genome.wustl.edu	37	19	53344548	53344548	+	Silent	SNP	A	A	G			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:53344548A>G	ENST00000595646.1	-	4	1119	c.999T>C	c.(997-999)gaT>gaC	p.D333D	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.D280D|ZNF468_ENST00000396409.4_Silent_p.D280D			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CGAAAGCCTCATCACAAACCT	0.358																																																	0													127.0	131.0	130.0					19																	53344548		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.999T>C	19.37:g.53344548A>G			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D333	ENST00000595646.1	37	c.999	CCDS33094.1	19																																																																																			ZNF468	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204604		0.358	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1		0.00	30	0	A	NM_001008801		53344548	-1			no_errors	ENST00000595646	ensembl	human	known	74_37	silent	15.91	37	7	SNP	0.826	G
ZNF501	115560	genome.wustl.edu	37	3	44776031	44776031	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr3:44776031C>A	ENST00000396048.2	+	3	555	c.118C>A	c.(118-120)Cac>Aac	p.H40N		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TCTTACCCAGCACCAGAGGAT	0.413																																																	0													93.0	101.0	98.0					3																	44776031		2172	4289	6461	SO:0001583	missense	0			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.118C>A	3.37:g.44776031C>A	ENSP00000379363:p.His40Asn		B4DLY7|Q96NU9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H40N	ENST00000396048.2	37	c.118	CCDS2720.2	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947388	0.73672	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	D	0.86865	-2.18	2.4	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94115	0.8113	H	0.95950	3.745	0.34792	D	0.735881	D;D	0.63880	0.993;0.989	P;P	0.58577	0.841;0.78	D	0.97256	0.9901	9	0.87932	D	0	.	12.5952	0.56465	0.0:1.0:0.0:0.0	.	40;40	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	N	40	ENSP00000379363:H40N	ENSP00000330388:H40N	H	+	1	0	ZNF501	44751035	0.999000	0.42202	0.878000	0.34440	0.891000	0.51852	5.152000	0.64882	1.655000	0.50712	0.563000	0.77884	CAC	ZNF501	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186446		0.413	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF501	HGNC	protein_coding	OTTHUMT00000256654.4		0.00	34	0	C	NM_145044		44776031	+1			no_errors	ENST00000396048	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.996	A
ZNF613	79898	genome.wustl.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458																																																	0													97.0	97.0	97.0					19																	52448197		2203	4300	6503	SO:0001583	missense	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1061G>A	19.37:g.52448197G>A	ENSP00000293471:p.Arg354His		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R354H	ENST00000293471.6	37	c.1061	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905323	0.52333	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.07567	3.18;3.18	3.26	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.950270	0.02940	N	0.140304	T	0.10981	0.0268	L	0.53249	1.67	0.22926	N	0.998558	B	0.25351	0.124	B	0.23419	0.046	T	0.32428	-0.9907	10	0.54805	T	0.06	.	4.6272	0.12484	0.1284:0.2282:0.6434:0.0	.	354	Q6PF04	ZN613_HUMAN	H	354;318;28	ENSP00000293471:R354H;ENSP00000375671:R318H	ENSP00000293471:R354H	R	+	2	0	ZNF613	57140009	0.000000	0.05858	0.793000	0.32043	0.922000	0.55478	-2.036000	0.01421	0.708000	0.31955	0.655000	0.94253	CGC	ZNF613	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176024		0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2		0.00	44	0	G	NM_024840		52448197	+1			no_errors	ENST00000293471	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.895	A
ZNF587	84914	genome.wustl.edu	37	19	58369950	58369950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:58369950G>A	ENST00000339656.5	+	3	352	c.170G>A	c.(169-171)tGg>tAg	p.W57*	CTD-2583A14.10_ENST00000598031.1_Nonsense_Mutation_p.W57*|ZNF814_ENST00000595295.1_3'UTR|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.W56*|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.W14*|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF587B_ENST00000316462.4_3'UTR	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TCAGGTTGTTGGTGTGGATCA	0.478																																					Pancreas(59;641 1233 1885 20055 50741)												0													64.0	65.0	65.0					19																	58369950		2203	4300	6503	SO:0001587	stop_gained	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.170G>A	19.37:g.58369950G>A	ENSP00000345479:p.Trp57*		A0AV72|G3V0H5|Q6ZMK8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W57*	ENST00000339656.5	37	c.170	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	14.52	2.559365	0.45590	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	.	.	.	1.4	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	4.8253	0.13412	0.0:0.0:0.6382:0.3618	.	.	.	.	X	14;56;57;57;14	.	ENSP00000345479:W57X	W	+	2	0	ZNF587	63061762	0.000000	0.05858	0.084000	0.20598	0.077000	0.17291	0.432000	0.21461	1.066000	0.40716	0.195000	0.17529	TGG	ZNF587	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198466		0.478	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2		0.00	61	0	G	NM_032828		58369950	+1			no_errors	ENST00000339656	ensembl	human	known	74_37	nonsense	12.66	69	10	SNP	0.816	A
ZNF652	22834	genome.wustl.edu	37	17	47376270	47376270	+	Silent	SNP	G	G	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr17:47376270G>T	ENST00000362063.2	-	6	1644	c.1326C>A	c.(1324-1326)atC>atA	p.I442I	ZNF652_ENST00000430262.2_Silent_p.I442I	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGATTTCACAGATAAAGGGTT	0.433																																																	0													46.0	45.0	46.0					17																	47376270		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1326C>A	17.37:g.47376270G>T			A4QPD9|Q5H9Q0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I442	ENST00000362063.2	37	c.1326	CCDS32677.1	17																																																																																			ZNF652	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198740		0.433	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF652	HGNC	protein_coding	OTTHUMT00000364524.1		0.00	32	0	G	NM_014897		47376270	-1			no_errors	ENST00000362063	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	T
ZNF835	90485	genome.wustl.edu	37	19	57175612	57175612	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6DQ-01B-11D-A31U-09	TCGA-R6-A6DQ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb5953cd-9098-40e7-9251-5f1cfdc44aa9	5019f200-1913-4d8e-9d70-89c985ae55e2	g.chr19:57175612C>T	ENST00000537055.2	-	2	1186	c.955G>A	c.(955-957)Gcc>Acc	p.A319T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCAGAGAGGCGCTCTGGCTG	0.701																																																	1	Deletion - Frameshift(1)	pancreas(1)											17.0	17.0	17.0					19																	57175612		2199	4295	6494	SO:0001583	missense	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.955G>A	19.37:g.57175612C>T	ENSP00000444747:p.Ala319Thr		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A319T	ENST00000537055.2	37	c.955	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438432	0.43326	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.36340	1.26	2.1	-3.11	0.05299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16769	0.0403	N	0.13272	0.32	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.17961	-1.0352	9	0.56958	D	0.05	.	2.5737	0.04801	0.3689:0.2405:0.0:0.3906	.	341	Q9Y2P0	ZN835_HUMAN	T	341;319	ENSP00000444747:A319T	ENSP00000341756:A341T	A	-	1	0	ZNF835	61867424	0.000000	0.05858	0.033000	0.17914	0.777000	0.43975	-9.081000	0.00014	-0.726000	0.04895	-1.157000	0.01802	GCC	ZNF835	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127903		0.701	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1		0.00	31	0	C	NM_001005850		57175612	-1			no_errors	ENST00000537055	ensembl	human	known	74_37	missense	18.42	28	7	SNP	0.001	T
