#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
ABCB4	5244	genome.wustl.edu	37	7	87092124	87092124	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:87092124C>T	ENST00000265723.4	-	4	347	c.236G>A	c.(235-237)gGa>gAa	p.G79E	ABCB4_ENST00000453593.1_Missense_Mutation_p.G79E|ABCB4_ENST00000358400.3_Missense_Mutation_p.G79E|ABCB4_ENST00000359206.3_Missense_Mutation_p.G79E|ABCB4_ENST00000545634.1_Missense_Mutation_p.G79E	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	79	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGTCATCTCTCCAAATACTAT	0.403																																																	0													91.0	85.0	87.0					7																	87092124		2203	4300	6503	SO:0001583	missense	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.236G>A	7.37:g.87092124C>T	ENSP00000265723:p.Gly79Glu		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G79E	ENST00000265723.4	37	c.236	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044863	0.93685	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.051789	0.85682	N	0.000000	D	0.96629	0.8900	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.97423	1.0010	10	0.87932	D	0	-15.1279	19.0008	0.92832	0.0:1.0:0.0:0.0	.	79;79;79;79	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	E	79	ENSP00000352135:G79E;ENSP00000351172:G79E;ENSP00000265723:G79E;ENSP00000392983:G79E;ENSP00000437465:G79E	ENSP00000265723:G79E	G	-	2	0	ABCB4	86930060	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.187000	0.77730	2.503000	0.84419	0.563000	0.77884	GGA	ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000005471		0.403	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	-	0.00	32	0	C	NM_000443		87092124	-1	tier1	-	no_errors	ENST00000265723	ensembl	human	known	74_37	missense	31.67	41	19	SNP	1.000	T
ABCC5	10057	genome.wustl.edu	37	3	183665256	183665257	+	Frame_Shift_Ins	INS	-	-	A	rs374387850		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:183665256_183665257insA	ENST00000334444.6	-	23	3509_3510	c.3269_3270insT	c.(3268-3270)ttgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CACACGTAAACAAAAAAAAAGG	0.53																																																	0																																										SO:0001589	frameshift_variant	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3270dupT	3.37:g.183665265_183665265dupA	ENSP00000333926:p.Leu1090fs		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L1090fs	ENST00000334444.6	37	c.3270_3269	CCDS43176.1	3																																																																																			ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000114770		0.530	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1		0.00	29	0	-	NM_005688		183665257	-1	tier1		no_errors	ENST00000334444	ensembl	human	known	74_37	frame_shift_ins	19.05	17	4	INS	1.000:1.000	A
ACE2	59272	genome.wustl.edu	37	X	15603632	15603632	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:15603632G>T	ENST00000252519.3	-	7	968	c.866C>A	c.(865-867)cCa>cAa	p.P289Q	ACE2_ENST00000427411.1_Missense_Mutation_p.P289Q			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	289					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	ATCTATGTTTGGTTTCTGTCC	0.333																																																	0													138.0	134.0	136.0					X																	15603632		2203	4298	6501	SO:0001583	missense	0			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.866C>A	X.37:g.15603632G>T	ENSP00000252519:p.Pro289Gln		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.P289Q	ENST00000252519.3	37	c.866	CCDS14169.1	X	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047073	0.55110	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.37752	1.18;1.18	5.64	5.64	0.86602	.	0.112355	0.64402	N	0.000009	T	0.51398	0.1672	M	0.80422	2.495	0.39515	D	0.968427	D	0.54601	0.967	P	0.50754	0.649	T	0.59467	-0.7449	10	0.52906	T	0.07	-16.7664	13.6559	0.62338	0.0:0.0:0.8455:0.1545	.	289	Q9BYF1	ACE2_HUMAN	Q	289	ENSP00000252519:P289Q;ENSP00000389326:P289Q	ENSP00000252519:P289Q	P	-	2	0	ACE2	15513553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.273000	0.72581	2.364000	0.80123	0.594000	0.82650	CCA	ACE2	-	pfam_Peptidase_M2	ENSG00000130234		0.333	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE2	HGNC	protein_coding	OTTHUMT00000055867.1	-	0.00	64	0	G			15603632	-1	tier1	-	no_errors	ENST00000252519	ensembl	human	known	74_37	missense	6.45	57	4	SNP	1.000	T
ACOT13	55856	genome.wustl.edu	37	6	24687916	24687916	+	Intron	SNP	A	A	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:24687916A>T	ENST00000230048.4	+	2	274				ACOT13_ENST00000476436.1_3'UTR|ACOT13_ENST00000537591.1_Nonsense_Mutation_p.R3*	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13						metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						AGAAATGGTTAGAAAGGTAAG	0.368																																																	0													160.0	148.0	152.0					6																	24687916		692	1591	2283	SO:0001627	intron_variant	0			AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"""Acyl CoA thioesterases"""	20999	protein-coding gene	gene with protein product		615652	"""thioesterase superfamily member 2"""	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.82-10195A>T	6.37:g.24687916A>T			F5H2L4|O95549	Nonsense_Mutation	SNP	pfam_Thioestr_supf,tigrfam_PAAI_dom	p.R3*	ENST00000230048.4	37	c.7	CCDS4558.1	6	.	.	.	.	.	.	.	.	.	.	A	40	8.464113	0.98822	.	.	ENSG00000112304	ENST00000537591	.	.	.	1.06	1.06	0.20224	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	4.3256	0.11038	1.0:0.0:0.0:0.0	.	.	.	.	X	3	.	ENSP00000445552:R3X	R	+	1	2	ACOT13	24795895	0.995000	0.38212	0.584000	0.28653	0.627000	0.37826	1.335000	0.33839	0.729000	0.32403	0.358000	0.22013	AGA	ACOT13	-	NULL	ENSG00000112304		0.368	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT13	HGNC	protein_coding	OTTHUMT00000040010.2		0.00	36	0	A	NM_018473		24687916	+1			no_errors	ENST00000537591	ensembl	human	known	74_37	nonsense	12.00	22	3	SNP	0.761	T
ACTN2	88	genome.wustl.edu	37	1	236849947	236849947	+	5'UTR	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:236849947C>T	ENST00000366578.4	+	0	140				ACTN2_ENST00000542672.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTCGCGCCCCGCCGCAGCCC	0.711																																																	0													29.0	31.0	30.0					1																	236849947		2200	4296	6496	SO:0001623	5_prime_UTR_variant	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.-27C>T	1.37:g.236849947C>T			B1ANE4|B2RCS5|Q86TF4|Q86TI8	RNA	SNP	-	NULL	ENST00000366578.4	37	NULL	CCDS1613.1	1																																																																																			ACTN2	-	-	ENSG00000077522		0.711	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0.00	44	0	C	NM_001103		236849947	+1	tier1	-	no_errors	ENST00000492634	ensembl	human	known	74_37	rna	61.84	29	47	SNP	0.039	T
ADAMTS18	170692	genome.wustl.edu	37	16	77389970	77389970	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:77389970C>T	ENST00000282849.5	-	9	1745	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	443	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGAATCATACCAAAGCTGAAA	0.393																																																	0													94.0	87.0	89.0					16																	77389970		2198	4300	6498	SO:0001583	missense	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1327G>A	16.37:g.77389970C>T	ENSP00000282849:p.Gly443Ser		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G443S	ENST00000282849.5	37	c.1327	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352195	0.82132	.	.	ENSG00000140873	ENST00000282849	D	0.99186	-5.53	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	D	0.98792	1.0736	10	0.87932	D	0	.	18.2505	0.90000	0.0:1.0:0.0:0.0	.	443;443	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	S	443	ENSP00000282849:G443S	ENSP00000282849:G443S	G	-	1	0	ADAMTS18	75947471	1.000000	0.71417	0.998000	0.56505	0.261000	0.26267	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GGT	ADAMTS18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000140873		0.393	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	-	0.00	60	0	C			77389970	-1	tier1	-	no_errors	ENST00000282849	ensembl	human	known	74_37	missense	45.45	23	20	SNP	1.000	T
ADAMTS19	171019	genome.wustl.edu	37	5	129015552	129015552	+	Silent	SNP	A	A	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:129015552A>C	ENST00000274487.4	+	17	2729	c.2584A>C	c.(2584-2586)Aga>Cga	p.R862R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	862	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCATTATGTAAGACGAGGCCT	0.433																																																	0													102.0	100.0	101.0					5																	129015552		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2584A>C	5.37:g.129015552A>C				Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R862	ENST00000274487.4	37	c.2584	CCDS4146.1	5																																																																																			ADAMTS19	-	pfam_ADAM_spacer1	ENSG00000145808		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0.00	64	0	A	NM_133638		129015552	+1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.998	C
ALDH1L1	10840	genome.wustl.edu	37	3	125872176	125872177	+	Intron	INS	-	-	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:125872176_125872177insT	ENST00000393434.2	-	7	1208				ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000455064.2_Frame_Shift_Ins_p.N148fs|ALDH1L1_ENST00000472186.1_Intron|ALDH1L1_ENST00000273450.3_Intron|ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCTGGGTCTGGTTTTTTCCATT	0.574																																																	0																																										SO:0001627	intron_variant	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.858+109->A	3.37:g.125872182_125872182dupT			B4DG36|E9PBX3|Q68CS1	Frame_Shift_Ins	INS	pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,superfamily_Formyl_transf_N	p.N148fs	ENST00000393434.2	37	c.444_443	CCDS3034.1	3																																																																																			ALDH1L1	-	NULL	ENSG00000144908		0.574	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1		0.00	27	0	-	NM_012190		125872177	-1	tier1		no_errors	ENST00000455064	ensembl	human	known	74_37	frame_shift_ins	31.43	24	11	INS	0.000:0.000	T
ANKRD44	91526	genome.wustl.edu	37	2	197855575	197855575	+	Intron	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:197855575C>T	ENST00000282272.8	-	27	2899					NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44											NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GAGAAAAAGGCATCATGGTAG	0.498																																																	0																																										SO:0001627	intron_variant	0			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000282272.8:c.2900-1202G>A	2.37:g.197855575C>T			Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	RNA	SNP	-	NULL	ENST00000282272.8	37	NULL		2																																																																																			ANKRD44	-	-	ENSG00000065413		0.498	ANKRD44-201	KNOWN	basic	protein_coding	ANKRD44	HGNC	protein_coding		-	0.00	31	0	C	NM_153697		197855575	-1	tier1	-	no_errors	ENST00000493808	ensembl	human	known	74_37	rna	8.89	41	4	SNP	1.000	T
ANPEP	290	genome.wustl.edu	37	15	90346713	90346713	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:90346713G>T	ENST00000300060.6	-	9	1776	c.1463C>A	c.(1462-1464)tCc>tAc	p.S488Y	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	488	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	caggaagctGGAGAGCATCCT	0.667																																					NSCLC(30;827 977 2459 19669 26125)												0													24.0	23.0	23.0					15																	90346713		2199	4296	6495	SO:0001583	missense	0			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1463C>A	15.37:g.90346713G>T	ENSP00000300060:p.Ser488Tyr		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S488Y	ENST00000300060.6	37	c.1463	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480104	0.63849	.	.	ENSG00000166825	ENST00000300060	T	0.04970	3.52	4.88	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	M	0.87827	2.91	0.42377	D	0.992474	P	0.48694	0.914	P	0.57776	0.827	T	0.00563	-1.1669	10	0.51188	T	0.08	.	9.6163	0.39694	0.0:0.0:0.7914:0.2086	.	488	P15144	AMPN_HUMAN	Y	488	ENSP00000300060:S488Y	ENSP00000300060:S488Y	S	-	2	0	ANPEP	88147717	1.000000	0.71417	0.350000	0.25708	0.542000	0.35054	4.430000	0.59907	2.240000	0.73641	0.484000	0.47621	TCC	ANPEP	-	NULL	ENSG00000166825		0.667	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1		0.00	97	0	G			90346713	-1			no_errors	ENST00000300060	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.934	T
APC	324	genome.wustl.edu	37	5	112177178	112177178	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:112177178delT	ENST00000457016.1	+	16	6267	c.5887delT	c.(5887-5889)tttfs	p.F1963fs	APC_ENST00000508376.2_Frame_Shift_Del_p.F1963fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.F1963fs			P25054	APC_HUMAN	adenomatous polyposis coli	1963	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCCGGTTTGCTTTTCTCATAA	0.403		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											64.0	62.0	63.0					5																	112177178		2202	4299	6501	SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5887delT	5.37:g.112177178delT	ENSP00000413133:p.Phe1963fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S1964fs	ENST00000457016.1	37	c.5887	CCDS4107.1	5																																																																																			APC	-	pfam_APC_Cys-rich_rpt	ENSG00000134982		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0.00	48	0	T	NM_000038		112177178	+1	tier1		no_errors	ENST00000257430	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-
APEH	327	genome.wustl.edu	37	3	49717029	49717029	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:49717029C>G	ENST00000296456.5	+	13	1562	c.1162C>G	c.(1162-1164)Ctg>Gtg	p.L388V	APEH_ENST00000438011.1_Missense_Mutation_p.L388V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	388					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTTCAGGACCTGTTTGCTGT	0.597																																																	0													286.0	229.0	248.0					3																	49717029		2203	4300	6503	SO:0001583	missense	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1162C>G	3.37:g.49717029C>G	ENSP00000296456:p.Leu388Val		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro	p.L388V	ENST00000296456.5	37	c.1162	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782597	0.16189	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.42513	0.97;0.97	4.59	4.59	0.56863	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.150489	0.45867	D	0.000327	T	0.27798	0.0684	N	0.24115	0.695	0.43222	D	0.9951	B;B	0.24426	0.103;0.103	B;B	0.18871	0.023;0.023	T	0.06917	-1.0800	10	0.15952	T	0.53	-18.473	14.2349	0.65919	0.0:1.0:0.0:0.0	.	388;388	C9JIF9;P13798	.;ACPH_HUMAN	V	388	ENSP00000296456:L388V;ENSP00000415862:L388V	ENSP00000296456:L388V	L	+	1	2	APEH	49692033	0.795000	0.28851	1.000000	0.80357	0.882000	0.50991	0.670000	0.25157	2.370000	0.80446	0.462000	0.41574	CTG	APEH	-	NULL	ENSG00000164062		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	HGNC	protein_coding	OTTHUMT00000346415.2	-	0.00	27	0	C			49717029	+1	tier1	-	no_errors	ENST00000296456	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	G
APOB	338	genome.wustl.edu	37	2	21230107	21230108	+	Frame_Shift_Ins	INS	-	-	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:21230107_21230108insT	ENST00000233242.1	-	26	9759_9760	c.9632_9633insA	c.(9631-9633)aacfs	p.N3211fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3211	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGTTTCTGTTTTTTTCAAA	0.356																																																	0			GRCh37	CI942146	APOB	I																																				SO:0001589	frameshift_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9633dupA	2.37:g.21230114_21230114dupT	ENSP00000233242:p.Asn3211fs		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Ins	INS	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.N3211fs	ENST00000233242.1	37	c.9633_9632	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.356	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0.00	63	0	-			21230108	-1	tier1		no_errors	ENST00000233242	ensembl	human	known	74_37	frame_shift_ins	25.00	48	16	INS	0.997:0.991	T
AQP2	359	genome.wustl.edu	37	12	50348089	50348089	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:50348089G>A	ENST00000199280.3	+	2	597	c.512G>A	c.(511-513)gGc>gAc	p.G171D	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	171					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GTGGCCCTGGGCCACCTCCTT	0.627																																																	0													28.0	33.0	32.0					12																	50348089		2203	4299	6502	SO:0001583	missense	0				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.512G>A	12.37:g.50348089G>A	ENSP00000199280:p.Gly171Asp		Q9UD68	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.G171D	ENST00000199280.3	37	c.512	CCDS8792.1	12	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286792	0.80803	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;T	0.93133	-3.17;0.93	4.72	4.72	0.59763	Aquaporin-like (2);	0.000000	0.64402	D	0.000004	D	0.96281	0.8787	M	0.73962	2.25	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96782	0.9576	10	0.87932	D	0	-24.4279	15.5492	0.76133	0.0:0.0:1.0:0.0	.	171	P41181	AQP2_HUMAN	D	171	ENSP00000199280:G171D;ENSP00000450022:G171D	ENSP00000199280:G171D	G	+	2	0	AQP2	48634356	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.853000	0.86934	2.354000	0.79902	0.491000	0.48974	GGC	AQP2	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000167580		0.627	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	-	0.00	73	0	G	NM_000486		50348089	+1	tier1	-	no_errors	ENST00000199280	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A
ARHGEF10	9639	genome.wustl.edu	37	8	1905070	1905070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:1905070G>T	ENST00000398564.1	+	29	3751	c.3751G>T	c.(3751-3753)Gga>Tga	p.G1251*	ARHGEF10_ENST00000520359.1_Nonsense_Mutation_p.G1188*|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Nonsense_Mutation_p.G1226*|ARHGEF10_ENST00000262112.6_Nonsense_Mutation_p.G1222*|ARHGEF10_ENST00000518288.1_Nonsense_Mutation_p.G1250*			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1251					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACTTCCGAGTGGAGGAGCTGG	0.602																																																	0													97.0	93.0	94.0					8																	1905070		2203	4300	6503	SO:0001587	stop_gained	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3751G>T	8.37:g.1905070G>T	ENSP00000381571:p.Gly1251*		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.G1251*	ENST00000398564.1	37	c.3751		8	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934365	0.92458	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	.	.	.	5.71	5.71	0.89125	.	1.608420	0.03932	N	0.285367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-19.6883	19.8366	0.96659	0.0:0.0:1.0:0.0	.	.	.	.	X	1226;1188;1250;1251;1222;870	.	ENSP00000262112:G1222X	G	+	1	0	ARHGEF10	1892477	0.953000	0.32496	0.113000	0.21522	0.001000	0.01503	4.033000	0.57282	2.673000	0.90976	0.655000	0.94253	GGA	ARHGEF10	-	NULL	ENSG00000104728		0.602	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		-	0.00	40	0	G			1905070	+1	tier1	-	no_errors	ENST00000398564	ensembl	human	known	74_37	nonsense	12.90	27	4	SNP	0.323	T
ARHGEF2	9181	genome.wustl.edu	37	1	155921991	155921991	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:155921991C>T	ENST00000361247.4	-	16	2119	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.V673M|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.V646M|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.V646M|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.V719M|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.V675M	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	674					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCAGTTCCACTCCTGGCCCC	0.597																																					Melanoma(178;35 2768 6610 28839)												0													48.0	47.0	47.0					1																	155921991		2203	4300	6503	SO:0001583	missense	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2020G>A	1.37:g.155921991C>T	ENSP00000354837:p.Val674Met		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.V675M	ENST00000361247.4	37	c.2023	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	C	8.179	0.793428	0.16327	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.65178	-0.14;-0.02;-0.02;-0.14;-0.14	5.39	2.4	0.29515	.	0.376167	0.19321	N	0.117122	T	0.19406	0.0466	N	0.17082	0.46	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.15870	0.003;0.001;0.014	T	0.12167	-1.0558	10	0.32370	T	0.25	-8.0958	4.5256	0.11980	0.0:0.5547:0.1747:0.2706	.	718;674;673	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	M	646;674;675;646;673	ENSP00000315325:V646M;ENSP00000354837:V674M;ENSP00000357298:V675M;ENSP00000357299:V646M;ENSP00000314787:V673M	ENSP00000314787:V673M	V	-	1	0	ARHGEF2	154188615	0.000000	0.05858	0.072000	0.20136	0.835000	0.47333	0.254000	0.18314	0.848000	0.35191	0.655000	0.94253	GTG	ARHGEF2	-	NULL	ENSG00000116584		0.597	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2		0.00	28	0	C	NM_004723		155921991	-1			no_errors	ENST00000368315	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.002	T
ARIH2	10425	genome.wustl.edu	37	3	49008111	49008111	+	Silent	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:49008111G>A	ENST00000356401.4	+	8	1083	c.744G>A	c.(742-744)caG>caA	p.Q248Q	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Silent_p.Q248Q	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	248					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCCGAGTACAGTGCAATCGGT	0.567																																																	0													102.0	96.0	98.0					3																	49008111		2203	4300	6503	SO:0001819	synonymous_variant	0			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.744G>A	3.37:g.49008111G>A			Q9HBZ6|Q9UEM9	Silent	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.Q248	ENST00000356401.4	37	c.744	CCDS2780.1	3																																																																																			ARIH2	-	pfam_Znf_C6HC,smart_Znf_C6HC	ENSG00000177479		0.567	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	-	0.00	22	0	G	NM_006321		49008111	+1	tier1	-	no_errors	ENST00000356401	ensembl	human	known	74_37	silent	19.35	25	6	SNP	1.000	A
ARSF	416	genome.wustl.edu	37	X	3021930	3021930	+	Silent	SNP	C	C	T	rs201866054		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:3021930C>T	ENST00000381127.1	+	9	1451	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	ARSF_ENST00000537104.1_Silent_p.V410V|ARSF_ENST00000359361.2_Silent_p.V410V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	410					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACCAACTGTCGCATCAGTGT	0.453																																																	0													96.0	89.0	91.0					X																	3021930		2203	4300	6503	SO:0001819	synonymous_variant	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1230C>T	X.37:g.3021930C>T			Q8TCC5	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.V410	ENST00000381127.1	37	c.1230	CCDS14123.1	X																																																																																			ARSF	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000062096		0.453	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	-	0.00	35	0	C			3021930	+1	tier1	rs201866054	no_errors	ENST00000359361	ensembl	human	known	74_37	silent	76.32	9	29	SNP	0.000	T
ATAD2B	54454	genome.wustl.edu	37	2	24092543	24092543	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:24092543C>T	ENST00000238789.5	-	9	1409	c.1066G>A	c.(1066-1068)Gca>Aca	p.A356T		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	356						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATTTCTTGCTCTTGCCATG	0.318																																																	0													125.0	103.0	109.0					2																	24092543		1826	4082	5908	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1066G>A	2.37:g.24092543C>T	ENSP00000238789:p.Ala356Thr		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.A356T	ENST00000238789.5	37	c.1066	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.124478	0.94429	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	D;T	0.92699	-3.09;-0.23	5.3	5.3	0.74995	.	.	.	.	.	D	0.95749	0.8617	M	0.70275	2.135	0.54753	D	0.999987	D;P	0.89917	1.0;0.931	D;P	0.91635	0.999;0.566	D	0.94957	0.8105	9	0.44086	T	0.13	.	19.3339	0.94307	0.0:1.0:0.0:0.0	.	370;356	C9JG15;Q9ULI0	.;ATD2B_HUMAN	T	356;208;370	ENSP00000238789:A356T;ENSP00000403177:A370T	ENSP00000238789:A356T	A	-	1	0	ATAD2B	23946047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.495000	0.66912	2.655000	0.90218	0.555000	0.69702	GCA	ATAD2B	-	NULL	ENSG00000119778		0.318	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	-	0.00	93	0	C	NM_017552		24092543	-1	tier1	-	no_errors	ENST00000238789	ensembl	human	known	74_37	missense	47.54	32	29	SNP	1.000	T
ATP10D	57205	genome.wustl.edu	37	4	47514680	47514680	+	Silent	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:47514680T>C	ENST00000273859.3	+	2	392	c.123T>C	c.(121-123)tcT>tcC	p.S41S	ATP10D_ENST00000504445.1_Silent_p.S41S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	41					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GCAAGTCCTCTCAGACCCCTA	0.532																																																	0													94.0	89.0	91.0					4																	47514680		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.123T>C	4.37:g.47514680T>C			A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S41	ENST00000273859.3	37	c.123	CCDS3476.1	4																																																																																			ATP10D	-	NULL	ENSG00000145246		0.532	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0.00	52	0	T	NM_020453		47514680	+1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.000	C
ATP2A2	488	genome.wustl.edu	37	12	110784258	110784258	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:110784258G>T	ENST00000539276.2	+	20	3221	c.3112G>T	c.(3112-3114)Gat>Tat	p.D1038Y	ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000395494.2_Missense_Mutation_p.D1011Y			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1038					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAACTTTAGCGATATGTTCTG	0.403																																																	0													80.0	72.0	75.0					12																	110784258		2203	4300	6503	SO:0001583	missense	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.3112G>T	12.37:g.110784258G>T	ENSP00000440045:p.Asp1038Tyr		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.D1038Y	ENST00000539276.2	37	c.3112	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.61|14.61	2.585765|2.585765	0.46110|0.46110	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000395494;ENST00000539276|ENST00000548169	D;D|.	0.94897|.	-3.55;-3.53|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.238391|.	0.48767|.	D|.	0.000169|.	T|T	0.48750|0.48750	0.1517|0.1517	N|N	0.08118|0.08118	0|0	0.42572|0.42572	D|D	0.993184|0.993184	P;B|.	0.35456|.	0.502;0.368|.	P;B|.	0.45119|.	0.47;0.279|.	T|T	0.42849|0.42849	-0.9427|-0.9427	9|5	.|.	.|.	.|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1011;1038|.	P16615-4;P16615|.	.;AT2A2_HUMAN|.	Y|L	1011;1038|928	ENSP00000378872:D1011Y;ENSP00000440045:D1038Y|.	.|.	D|R	+|+	1|2	0|0	ATP2A2|ATP2A2	109268641|109268641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.523000|6.523000	0.73787|0.73787	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAT|CGA	ATP2A2	-	NULL	ENSG00000174437		0.403	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	-	0.00	30	0	G	NM_001681		110784258	+1	tier1	-	no_errors	ENST00000539276	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	T
ATP5S	27109	genome.wustl.edu	37	14	50790662	50790662	+	Splice_Site	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:50790662G>T	ENST00000311459.7	+	4	741		c.e4-1		RP11-247L20.4_ENST00000555403.1_lincRNA|ATP5S_ENST00000245448.6_Intron|ATP5S_ENST00000554438.1_Splice_Site|ATP5S_ENST00000358473.1_Splice_Site	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)						ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TTTCTCCCCAGAGGGCCTAGA	0.398																																																	1	Unknown(1)	skin(1)											74.0	71.0	72.0					14																	50790662		2203	4300	6503	SO:0001630	splice_region_variant	0			U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.362-1G>T	14.37:g.50790662G>T			A8K1U3|D9N156|Q8WWX3|Q96F77	Splice_Site	SNP	-	e4-1	ENST00000311459.7	37	c.362-1	CCDS32075.1	14	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116033	0.37339	.	.	ENSG00000125375;ENSG00000125375;ENSG00000258447	ENST00000311459;ENST00000358473;ENST00000553905	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1238	0.97972	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-247L20.2;ATP5S	49860412	1.000000	0.71417	0.989000	0.46669	0.084000	0.17831	9.367000	0.97148	2.756000	0.94617	0.585000	0.79938	.	ATP5S	-	-	ENSG00000125375		0.398	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5S	HGNC	protein_coding	OTTHUMT00000410761.1		0.00	42	0	G	NM_015684	Intron	50790662	+1			no_errors	ENST00000311459	ensembl	human	known	74_37	splice_site	8.00	23	2	SNP	1.000	T
DQX1	165545	genome.wustl.edu	37	2	74755953	74755953	+	5'Flank	SNP	C	C	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:74755953C>G	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R150T|DQX1_ENST00000393951.2_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGGGGGAAGCCTCGTGGAAGC	0.602																																																	0													43.0	46.0	45.0					2																	74755953		1915	4117	6032	SO:0001631	upstream_gene_variant	0			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74755953C>G	Exception_encountered		Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_CUE,smart_CUE,pfscan_CUE	p.R150T	ENST00000404568.3	37	c.449	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	C	9.581	1.123560	0.20959	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.93659	-3.26	4.82	4.82	0.62117	.	0.181713	0.47455	D	0.000227	T	0.81531	0.4842	N	0.03608	-0.345	0.40643	D	0.981965	P;B;B	0.36125	0.538;0.137;0.274	B;B;B	0.29524	0.103;0.043;0.069	T	0.82410	-0.0471	10	0.13470	T	0.59	-3.2233	15.7638	0.78110	0.0:1.0:0.0:0.0	.	207;216;150	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	T	150;214;152	ENSP00000366748:R150T	ENSP00000258081:R214T	R	-	2	0	AUP1	74609461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.006000	0.49529	2.669000	0.90835	0.561000	0.74099	AGG	AUP1	-	NULL	ENSG00000115307		0.602	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUP1	HGNC	protein_coding	OTTHUMT00000252230.3	-	0.00	52	0	C	NM_133637		74755953	-1	tier1	-	no_errors	ENST00000377526	ensembl	human	known	74_37	missense	31.65	54	25	SNP	1.000	G
BAGE2	85319	genome.wustl.edu	37	21	11038758	11038758	+	RNA	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:11038758T>G	ENST00000470054.1	-	0	1445							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGGAGAAAATTTTCTCTTAG	0.378																																																	0																																												0			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038758T>G			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-	ENSG00000187172		0.378	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	-	0.00	226	0	T	NM_182482		11038758	-1	tier1	-	no_errors	ENST00000470054	ensembl	human	known	74_37	rna	13.16	132	20	SNP	1.000	G
BAZ1B	9031	genome.wustl.edu	37	7	72873923	72873923	+	Silent	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:72873923T>C	ENST00000339594.4	-	13	3713	c.3375A>G	c.(3373-3375)gaA>gaG	p.E1125E	BAZ1B_ENST00000404251.1_Silent_p.E1125E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1125					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.E1125E(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGCTGAATCTTCACTTTGGA	0.388																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - coding silent(1)	kidney(1)											193.0	184.0	187.0					7																	72873923		2203	4300	6503	SO:0001819	synonymous_variant	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3375A>G	7.37:g.72873923T>C			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1125	ENST00000339594.4	37	c.3375	CCDS5549.1	7																																																																																			BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.388	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4		0.00	49	0	T	NM_032408		72873923	-1			no_errors	ENST00000339594	ensembl	human	known	74_37	silent	6.90	27	2	SNP	1.000	C
BAZ2A	11176	genome.wustl.edu	37	12	57007891	57007891	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:57007891G>T	ENST00000551812.1	-	4	961	c.768C>A	c.(766-768)gtC>gtA	p.V256V	BAZ2A_ENST00000179765.5_Silent_p.V224V|BAZ2A_ENST00000549884.1_Silent_p.V254V|BAZ2A_ENST00000379441.3_Silent_p.V226V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	256					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCACAGAAGGGACAGAGCCAT	0.458																																																	0													130.0	126.0	127.0					12																	57007891		1986	4158	6144	SO:0001819	synonymous_variant	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.768C>A	12.37:g.57007891G>T			B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V256	ENST00000551812.1	37	c.768	CCDS44924.1	12																																																																																			BAZ2A	-	NULL	ENSG00000076108		0.458	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1		0.00	35	0	G	NM_013449		57007891	-1			no_errors	ENST00000551812	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T
BPTF	2186	genome.wustl.edu	37	17	65822444	65822444	+	Missense_Mutation	SNP	A	A	G	rs142703799		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:65822444A>G	ENST00000321892.4	+	1	665	c.604A>G	c.(604-606)Agc>Ggc	p.S202G	BPTF_ENST00000335221.5_Missense_Mutation_p.S202G|BPTF_ENST00000424123.3_Missense_Mutation_p.S63G|BPTF_ENST00000306378.6_Missense_Mutation_p.S202G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	202					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TACCTACAGCAGCACTCCAGG	0.597																																																	0													60.0	56.0	58.0					17																	65822444		2201	4298	6499	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.604A>G	17.37:g.65822444A>G	ENSP00000315454:p.Ser202Gly		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S202G	ENST00000321892.4	37	c.604		17	.	.	.	.	.	.	.	.	.	.	A	6.243	0.412944	0.11812	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	D;D;D	0.81579	-1.51;-1.51;-1.51	3.15	0.675	0.17952	.	.	.	.	.	T	0.76154	0.3948	L	0.29908	0.895	0.41428	D	0.987842	P;P;P	0.52577	0.596;0.954;0.718	B;D;B	0.66351	0.098;0.943;0.281	T	0.70597	-0.4828	9	0.07175	T	0.84	3.1294	6.1178	0.20136	0.6701:0.1684:0.0:0.1614	.	202;202;202	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	G	107;202;202;202;63	ENSP00000307208:S202G;ENSP00000334351:S202G;ENSP00000315454:S202G	ENSP00000307208:S202G	S	+	1	0	BPTF	63252906	1.000000	0.71417	0.016000	0.15963	0.001000	0.01503	7.626000	0.83164	-0.002000	0.14469	-0.636000	0.03981	AGC	BPTF	-	NULL	ENSG00000171634		0.597	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0.00	42	0	A	NM_182641, NM_004459		65822444	+1			no_errors	ENST00000321892	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	G
C15orf56	644809	genome.wustl.edu	37	15	40544554	40544554	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:40544554G>T	ENST00000319503.3	-	2	439	c.418C>A	c.(418-420)Cgg>Agg	p.R140R	PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000455577.2_Intron|C15orf56_ENST00000559727.1_3'UTR|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000260404.4_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	140										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		GCAGGTCCCCGCGGCTGTGGC	0.706																																																	0													4.0	6.0	6.0					15																	40544554		1981	3899	5880	SO:0001819	synonymous_variant	0				CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.418C>A	15.37:g.40544554G>T				Silent	SNP	NULL	p.R140	ENST00000319503.3	37	c.418	CCDS32197.1	15																																																																																			C15orf56	-	NULL	ENSG00000176753		0.706	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf56	HGNC	protein_coding	OTTHUMT00000418370.2	-	0.00	14	0	G	NM_001039905		40544554	-1	tier1	-	no_errors	ENST00000319503	ensembl	human	known	74_37	silent	56.25	7	9	SNP	0.000	T
C1orf56	54964	genome.wustl.edu	37	1	151020718	151020718	+	Missense_Mutation	SNP	C	C	T	rs35890495		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:151020718C>T	ENST00000368926.5	+	1	503	c.395C>T	c.(394-396)gCg>gTg	p.A132V		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	132						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|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)			CCCAATACAGCGGGGAGTTCC	0.562																																					GBM(146;891 3320 6873)												0													49.0	48.0	49.0					1																	151020718		2203	4300	6503	SO:0001583	missense	0			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.395C>T	1.37:g.151020718C>T	ENSP00000357922:p.Ala132Val		B2RDU8|Q9NWZ4	Missense_Mutation	SNP	superfamily_Thrombospondin_1_rpt	p.A132V	ENST00000368926.5	37	c.395	CCDS980.1	1	.	.	.	.	.	.	.	.	.	.	C	1.189	-0.635961	0.03557	.	.	ENSG00000143443	ENST00000368926;ENST00000433087	.	.	.	3.18	0.539	0.17156	.	1.297700	0.05956	N	0.639807	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.10450	0.005	T	0.31081	-0.9956	9	0.09843	T	0.71	.	2.6751	0.05079	0.246:0.5341:0.0:0.2199	.	132	Q9BUN1	CA056_HUMAN	V	132	.	ENSP00000357922:A132V	A	+	2	0	C1orf56	149287342	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.199000	0.09491	0.137000	0.18759	0.650000	0.86243	GCG	C1orf56	-	NULL	ENSG00000143443		0.562	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf56	HGNC	protein_coding	OTTHUMT00000085101.1	-	0.00	42	0	C	NM_017860		151020718	+1	tier1	-	no_errors	ENST00000368926	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	T
C20orf196	149840	genome.wustl.edu	37	20	5753675	5753675	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:5753675C>A	ENST00000303142.6	+	2	251	c.164C>A	c.(163-165)tCt>tAt	p.S55Y	C20orf196_ENST00000378979.4_Missense_Mutation_p.S55Y	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	55								p.S55C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						CCTTATTCTTCTGATGTGGAT	0.413																																																	1	Substitution - Missense(1)	lung(1)											130.0	125.0	127.0					20																	5753675		2203	4300	6503	SO:0001583	missense	0			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.164C>A	20.37:g.5753675C>A	ENSP00000305875:p.Ser55Tyr		A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	NULL	p.S55Y	ENST00000303142.6	37	c.164	CCDS13091.1	20	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485207	0.63962	.	.	ENSG00000171984	ENST00000378979;ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185;ENST00000541651	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.66	3.3	0.37823	.	0.377447	0.23321	N	0.049448	T	0.57330	0.2046	M	0.64997	1.995	0.33565	D	0.597847	D	0.53462	0.96	P	0.55303	0.773	T	0.68762	-0.5323	10	0.87932	D	0	-11.7024	5.0967	0.14737	0.0:0.6589:0.2088:0.1323	.	55	Q8IYI0	CT196_HUMAN	Y	55;55;55;55;102;102	ENSP00000368263:S55Y;ENSP00000305875:S55Y;ENSP00000399331:S55Y;ENSP00000410534:S102Y	ENSP00000305875:S55Y	S	+	2	0	C20orf196	5701675	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	1.198000	0.32223	1.485000	0.48380	0.650000	0.86243	TCT	C20orf196	-	NULL	ENSG00000171984		0.413	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf196	HGNC	protein_coding	OTTHUMT00000077882.2		0.00	44	0	C	NM_152504		5753675	+1			no_errors	ENST00000303142	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.999	A
C2CD2	25966	genome.wustl.edu	37	21	43327127	43327127	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:43327127A>C	ENST00000380486.3	-	10	1533	c.1292T>G	c.(1291-1293)gTg>gGg	p.V431G	C2CD2_ENST00000329623.7_Missense_Mutation_p.V276G	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	431						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGCCCTCCCCACGTCGACGCG	0.587																																																	0													84.0	71.0	75.0					21																	43327127		2203	4300	6503	SO:0001583	missense	0			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1292T>G	21.37:g.43327127A>C	ENSP00000369853:p.Val431Gly		Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.V431G	ENST00000380486.3	37	c.1292	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	A	1.955	-0.440297	0.04636	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.23147	1.93;1.92	4.8	-2.65	0.06095	.	1.309560	0.04698	N	0.415389	T	0.13200	0.0320	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.085;0.063	B;B	0.19666	0.016;0.026	T	0.29852	-0.9998	10	0.20046	T	0.44	-3.4458	11.0102	0.47659	0.7366:0.0:0.2634:0.0	.	276;431	Q6P6D1;Q9Y426	.;CU025_HUMAN	G	276;431	ENSP00000329302:V276G;ENSP00000369853:V431G	ENSP00000329302:V276G	V	-	2	0	C2CD2	42200196	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	-0.189000	0.09629	-0.511000	0.06514	0.533000	0.62120	GTG	C2CD2	-	NULL	ENSG00000157617		0.587	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	-	0.00	42	0	A	NM_015500		43327127	-1	tier1	-	no_errors	ENST00000380486	ensembl	human	known	74_37	missense	51.85	13	14	SNP	0.000	C
C3orf27	23434	genome.wustl.edu	37	3	128292319	128292320	+	Frame_Shift_Del	DEL	TC	TC	-	rs147519916		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:128292319_128292320delTC	ENST00000356020.2	-	3	1219_1220	c.253_254delGA	c.(253-255)gatfs	p.D86fs		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	86										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GAGCTCGTCATCTCTCTCTCTC	0.599																																																	0																																										SO:0001589	frameshift_variant	0			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.253_254delGA	3.37:g.128292329_128292330delTC	ENSP00000348302:p.Asp86fs			Frame_Shift_Del	DEL	NULL	p.D85fs	ENST00000356020.2	37	c.254_253	CCDS3050.1	3																																																																																			C3orf27	-	NULL	ENSG00000198685		0.599	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	HGNC	protein_coding	OTTHUMT00000356924.1		0.00	48	0	TC	NM_007354		128292320	-1	tier1		no_errors	ENST00000356020	ensembl	human	known	74_37	frame_shift_del	7.14	39	3	DEL	0.075:0.076	-
C5orf49	134121	genome.wustl.edu	37	5	7835549	7835549	+	Silent	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:7835549C>T	ENST00000399810.2	-	2	678	c.210G>A	c.(208-210)ttG>ttA	p.L70L	C5orf49_ENST00000509627.1_Silent_p.L70L	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	70										large_intestine(3)|lung(5)|skin(1)	9						CATCTCGGTGCAACTTCTGAT	0.348																																																	0													134.0	128.0	130.0					5																	7835549		1825	4085	5910	SO:0001819	synonymous_variant	0				CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.210G>A	5.37:g.7835549C>T				Silent	SNP	NULL	p.L70	ENST00000399810.2	37	c.210	CCDS43300.1	5																																																																																			C5orf49	-	NULL	ENSG00000215217		0.348	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf49	HGNC	protein_coding	OTTHUMT00000366322.1		0.00	38	0	C	NM_001089584		7835549	-1			no_errors	ENST00000399810	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.989	T
C6orf165	154313	genome.wustl.edu	37	6	88120319	88120319	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:88120319T>G	ENST00000507897.1	+	3	208	c.125T>G	c.(124-126)cTg>cGg	p.L42R	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L42R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	42										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCTGTTGTCCTGGATCCAAGT	0.343																																																	0													151.0	146.0	147.0					6																	88120319		2203	4300	6503	SO:0001583	missense	0			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.125T>G	6.37:g.88120319T>G	ENSP00000426769:p.Leu42Arg		A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	pfam_DUF3508	p.L42R	ENST00000507897.1	37	c.125	CCDS34498.1	6	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735074	0.69189	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.36878	1.23;1.35	5.73	4.54	0.55810	.	0.161441	0.40908	N	0.000994	T	0.52500	0.1738	M	0.83953	2.67	0.46356	D	0.999006	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.62058	-0.6934	10	0.87932	D	0	.	12.7947	0.57553	0.0:0.0:0.137:0.863	.	42;42	Q8IYR0;E1P509	CF165_HUMAN;.	R	42	ENSP00000358575:L42R;ENSP00000422494:L42R	ENSP00000358575:L42R	L	+	2	0	C6orf165	88177038	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	5.847000	0.69451	1.062000	0.40625	0.533000	0.62120	CTG	C6ORF165	-	NULL	ENSG00000272514		0.343	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	Uniprot_gn	protein_coding	OTTHUMT00000470406.1	-	0.00	69	0	T	NM_178823		88120319	+1	tier1	-	no_errors	ENST00000369562	ensembl	human	known	74_37	missense	56.92	27	37	SNP	0.996	G
C9orf116	138162	genome.wustl.edu	37	9	138387449	138387449	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:138387449G>T	ENST00000429260.2	-	3	255	c.235C>A	c.(235-237)Cca>Aca	p.P79T	C9orf116_ENST00000371791.1_Intron|C9orf116_ENST00000371789.3_Intron	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	79															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		TTCGAATTTGGATAAAATACT	0.358																																																	0													64.0	60.0	62.0					9																	138387449		2203	4300	6503	SO:0001583	missense	0			BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"""p53-induced expression 1 in Rb&#8722;/&#8722; cells"""	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.235C>A	9.37:g.138387449G>T	ENSP00000395281:p.Pro79Thr		Q5T897|Q8WU44	Missense_Mutation	SNP	NULL	p.P79T	ENST00000429260.2	37	c.235	CCDS43899.1	9	.	.	.	.	.	.	.	.	.	.	G	9.144	1.014464	0.19277	.	.	ENSG00000160345	ENST00000429260	.	.	.	5.03	1.79	0.24919	.	0.326738	0.27622	N	0.018541	T	0.39911	0.1096	M	0.72118	2.19	0.09310	N	1	B	0.16396	0.017	B	0.19946	0.027	T	0.25676	-1.0125	9	0.27785	T	0.31	-0.3664	4.1086	0.10049	0.0957:0.132:0.5788:0.1935	.	79	Q5BN46	CI116_HUMAN	T	79	.	ENSP00000395281:P79T	P	-	1	0	C9orf116	137527270	0.004000	0.15560	0.116000	0.21606	0.400000	0.30750	0.300000	0.19156	0.508000	0.28173	0.650000	0.86243	CCA	C9orf116	-	NULL	ENSG00000160345		0.358	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf116	HGNC	protein_coding	OTTHUMT00000054985.2		0.00	57	0	G	NM_144654		138387449	-1			no_errors	ENST00000429260	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.015	T
CAMK1	8536	genome.wustl.edu	37	3	9803338	9803338	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:9803338G>T	ENST00000256460.3	-	6	710	c.533C>A	c.(532-534)gCc>gAc	p.A178D	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGTTCCACAGGCGGTGGAGAG	0.592																																																	0													69.0	71.0	70.0					3																	9803338		2203	4300	6503	SO:0001583	missense	0			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.533C>A	3.37:g.9803338G>T	ENSP00000256460:p.Ala178Asp		Q3KPF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A178D	ENST00000256460.3	37	c.533	CCDS2582.1	3	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720205	0.89205	.	.	ENSG00000134072	ENST00000256460	T	0.40476	1.03	4.88	4.88	0.63580	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	0.58807	0.2148	L	0.41961	1.31	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	T	0.62932	-0.6749	10	0.87932	D	0	-12.1612	18.0487	0.89341	0.0:0.0:1.0:0.0	.	178	Q14012	KCC1A_HUMAN	D	178	ENSP00000256460:A178D	ENSP00000256460:A178D	A	-	2	0	CAMK1	9778338	1.000000	0.71417	0.996000	0.52242	0.654000	0.38779	9.802000	0.99131	2.255000	0.74692	0.655000	0.94253	GCC	CAMK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000134072		0.592	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1	HGNC	protein_coding	OTTHUMT00000250206.1		0.00	70	0	G	NM_003656		9803338	-1			no_errors	ENST00000256460	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T
CBLB	868	genome.wustl.edu	37	3	105459455	105459455	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:105459455C>T	ENST00000264122.4	-	7	1187	c.866G>A	c.(865-867)tGc>tAc	p.C289Y	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.C289Y|CBLB_ENST00000403724.1_Missense_Mutation_p.C289Y|CBLB_ENST00000394027.3_Missense_Mutation_p.C311Y	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	289	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CAATCGAGTGCAACTTAACCG	0.368			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													107.0	90.0	96.0					3																	105459455		2203	4300	6503	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.866G>A	3.37:g.105459455C>T	ENSP00000264122:p.Cys289Tyr		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	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.C289Y	ENST00000264122.4	37	c.866	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740695	0.89573	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.92	5.92	0.95590	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.94374	0.8191	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94288	0.7526	10	0.87932	D	0	-10.3674	20.3172	0.98658	0.0:1.0:0.0:0.0	.	311;289;289	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	Y	289;311;289;289	ENSP00000264122:C289Y;ENSP00000377595:C311Y;ENSP00000384816:C289Y;ENSP00000384938:C289Y	ENSP00000264122:C289Y	C	-	2	0	CBLB	106942145	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.479000	0.81095	2.801000	0.96364	0.650000	0.86243	TGC	CBLB	-	pfam_Adaptor_Cbl_SH2-like	ENSG00000114423		0.368	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	-	0.00	55	0	C	NM_170662		105459455	-1	tier1	-	no_errors	ENST00000264122	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
CCNK	8812	genome.wustl.edu	37	14	99976510	99976510	+	Silent	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:99976510C>T	ENST00000389879.5	+	11	1257	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	CCNK_ENST00000555049.1_Intron|RP11-688G15.3_ENST00000557733.1_RNA	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	378					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				AGCCTCCCCTCGCTGCTGCCT	0.662																																																	0													8.0	11.0	10.0					14																	99976510		2017	4161	6178	SO:0001819	synonymous_variant	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1134C>T	14.37:g.99976510C>T			Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.L378	ENST00000389879.5	37	c.1134	CCDS45160.1	14																																																																																			CCNK	-	NULL	ENSG00000090061		0.662	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	-	0.00	102	0	C			99976510	+1	tier1	-	no_errors	ENST00000389879	ensembl	human	known	74_37	silent	29.57	81	34	SNP	0.003	T
CCR1	1230	genome.wustl.edu	37	3	46245372	46245372	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:46245372G>A	ENST00000296140.3	-	2	558	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	145					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTGACGGTCCGTGCCCGCAAG	0.507																																																	0													78.0	73.0	75.0					3																	46245372		2203	4300	6503	SO:0001583	missense	0				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.433C>T	3.37:g.46245372G>A	ENSP00000296140:p.Arg145Trp		Q86VA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt	p.R145W	ENST00000296140.3	37	c.433	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657342	0.47467	.	.	ENSG00000163823	ENST00000296140	T	0.39787	1.06	4.86	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.65873	0.2733	H	0.95574	3.69	0.58432	D	0.999997	D	0.53312	0.959	P	0.54590	0.756	T	0.75382	-0.3337	10	0.87932	D	0	.	10.4114	0.44296	0.0:0.0:0.5644:0.4356	.	145	P32246	CCR1_HUMAN	W	145	ENSP00000296140:R145W	ENSP00000296140:R145W	R	-	1	2	CCR1	46220376	0.989000	0.36119	0.825000	0.32803	0.074000	0.17049	1.870000	0.39529	2.412000	0.81896	0.655000	0.94253	CGG	CCR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt	ENSG00000163823		0.507	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	-	0.00	36	0	G	NM_001295		46245372	-1	tier1	-	no_errors	ENST00000296140	ensembl	human	known	74_37	missense	36.59	26	15	SNP	0.997	A
CCSER2	54462	genome.wustl.edu	37	10	86132008	86132008	+	Silent	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:86132008G>A	ENST00000224756.8	+	2	1385	c.1200G>A	c.(1198-1200)tcG>tcA	p.S400S	CCSER2_ENST00000359979.4_Silent_p.S400S|CCSER2_ENST00000372088.2_Silent_p.S400S	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	400					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.S400S(1)									TTTCCTTGTCGTCTTTGTCAT	0.328																																																	1	Substitution - coding silent(1)	large_intestine(1)											106.0	103.0	104.0					10																	86132008		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1200G>A	10.37:g.86132008G>A			B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	NULL	p.S400	ENST00000224756.8	37	c.1200	CCDS31235.1	10																																																																																			CCSER2	-	NULL	ENSG00000107771		0.328	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2	-	0.00	44	0	G	NM_018999		86132008	+1	tier1	-	no_errors	ENST00000372088	ensembl	human	known	74_37	silent	59.26	11	16	SNP	0.519	A
CDC27	996	genome.wustl.edu	37	17	45216210	45216210	+	Silent	SNP	A	A	C	rs62075659		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318																																																	2	Substitution - coding silent(2)	large_intestine(2)											36.0	40.0	39.0					17																	45216210		2200	4297	6497	SO:0001819	synonymous_variant	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1599T>G	17.37:g.45216210A>C			G3V1C4|Q16349|Q96F35	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V539	ENST00000066544.3	37	c.1617	CCDS11509.1	17																																																																																			CDC27	-	pfscan_TPR-contain_dom	ENSG00000004897		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2		0.00	36	0	A			45216210	-1			no_errors	ENST00000531206	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.877	C
CEP55	55165	genome.wustl.edu	37	10	95287726	95287726	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:95287726C>T	ENST00000371485.3	+	9	1515	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	404	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				CATGAGTTTGCCATCACAGAG	0.383																																																	0													65.0	66.0	66.0					10																	95287726		2203	4300	6503	SO:0001583	missense	0			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.1211C>T	10.37:g.95287726C>T	ENSP00000360540:p.Ala404Val		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	pfam_EABR	p.A404V	ENST00000371485.3	37	c.1211	CCDS7428.1	10	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646852	0.29246	.	.	ENSG00000138180	ENST00000371485	T	0.18016	2.24	6.04	3.87	0.44632	.	0.306460	0.34460	N	0.003960	T	0.10078	0.0247	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.20240	-1.0281	10	0.36615	T	0.2	0.1495	9.3657	0.38223	0.0:0.5813:0.3358:0.0829	.	404	Q53EZ4	CEP55_HUMAN	V	404	ENSP00000360540:A404V	ENSP00000360540:A404V	A	+	2	0	CEP55	95277716	0.331000	0.24713	0.977000	0.42913	0.958000	0.62258	1.624000	0.37018	1.556000	0.49512	0.561000	0.74099	GCC	CEP55	-	NULL	ENSG00000138180		0.383	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP55	HGNC	protein_coding	OTTHUMT00000049434.1	-	0.00	51	0	C	NM_018131		95287726	+1	tier1	-	no_errors	ENST00000371485	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.068	T
CHRNE	1145	genome.wustl.edu	37	17	4805918	4805918	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:4805918G>T	ENST00000293780.4	-	2	197	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	63					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TAGCTTACCAGTGAGATGAGA	0.542																																																	0													159.0	169.0	166.0					17																	4805918		2203	4300	6503	SO:0001583	missense	0			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.187C>A	17.37:g.4805918G>T	ENSP00000293780:p.Leu63Met		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.L63M	ENST00000293780.4	37	c.187	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355744	0.61293	.	.	ENSG00000108556	ENST00000293780	T	0.81163	-1.46	5.11	1.9	0.25705	Neurotransmitter-gated ion-channel ligand-binding (3);	0.074132	0.56097	D	0.000033	D	0.84120	0.5402	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81686	-0.0820	10	0.56958	D	0.05	.	5.8807	0.18854	0.3298:0.0:0.6702:0.0	.	63	Q04844	ACHE_HUMAN	M	63	ENSP00000293780:L63M	ENSP00000293780:L63M	L	-	1	2	CHRNE	4746697	0.982000	0.34865	0.763000	0.31416	0.741000	0.42261	1.848000	0.39309	0.751000	0.32900	0.655000	0.94253	CTG	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt	ENSG00000108556		0.542	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	-	0.00	67	0	G			4805918	-1	tier1	-	no_errors	ENST00000293780	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.874	T
CLASP1	23332	genome.wustl.edu	37	2	122206680	122206680	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:122206680G>A	ENST00000263710.4	-	17	1929	c.1540C>T	c.(1540-1542)Cac>Tac	p.H514Y	CLASP1_ENST00000541377.1_Missense_Mutation_p.H514Y|CLASP1_ENST00000455322.2_Missense_Mutation_p.H514Y|CLASP1_ENST00000541859.1_Missense_Mutation_p.H283Y|CLASP1_ENST00000545861.1_Missense_Mutation_p.H282Y|CLASP1_ENST00000409078.3_Missense_Mutation_p.H514Y|CLASP1_ENST00000397587.3_Missense_Mutation_p.H514Y	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	514					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AAGTGACTGTGGAAACCCCAG	0.473																																																	0													83.0	81.0	82.0					2																	122206680		1935	4143	6078	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1540C>T	2.37:g.122206680G>A	ENSP00000263710:p.His514Tyr		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H514Y	ENST00000263710.4	37	c.1540		2	.	.	.	.	.	.	.	.	.	.	G	31	5.076393	0.94000	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.65549	-0.16;-0.07;-0.07;-0.07;-0.16;-0.07;-0.16	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (2);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.997;0.996;0.997;0.998	D;D;D;D	0.83275	0.992;0.986;0.994;0.996	T	0.78617	-0.2134	10	0.72032	D	0.01	1.2623	20.5948	0.99439	0.0:0.0:1.0:0.0	.	514;514;514;514	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	Y	514;514;514;514;283;514;282	ENSP00000263710:H514Y;ENSP00000389372:H514Y;ENSP00000380717:H514Y;ENSP00000441625:H514Y;ENSP00000441770:H283Y;ENSP00000386442:H514Y;ENSP00000438620:H282Y	ENSP00000263710:H514Y	H	-	1	0	CLASP1	121923150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	CAC	CLASP1	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000074054		0.473	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0.00	39	0	G	NM_015282		122206680	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A
CLCN7	1186	genome.wustl.edu	37	16	1498731	1498731	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:1498731G>A	ENST00000382745.4	-	20	2439	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	CLCN7_ENST00000448525.1_Missense_Mutation_p.P588S|CLCN7_ENST00000262318.8_Missense_Mutation_p.P588S|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	612					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGCAGGAAGGGCACACTCTGC	0.667																																																	0													80.0	81.0	81.0					16																	1498731		2196	4300	6496	SO:0001583	missense	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1834C>T	16.37:g.1498731G>A	ENSP00000372193:p.Pro612Ser		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.P612S	ENST00000382745.4	37	c.1834	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000182	0.93227	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93547	-3.24;-3.24	5.27	5.27	0.74061	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.984;0.998;1.0	D	0.97470	1.0040	10	0.87932	D	0	-51.1495	17.4426	0.87569	0.0:0.0:1.0:0.0	.	588;612;61	E9PDB9;P51798;B3KUD9	.;CLCN7_HUMAN;.	S	588;565;612;554	ENSP00000410907:P588S;ENSP00000372193:P612S	ENSP00000262318:P565S	P	-	1	0	CLCN7	1438732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.569000	0.98170	2.451000	0.82905	0.561000	0.74099	CCC	CLCN7	-	superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000103249		0.667	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0.00	110	0	G	NM_001287		1498731	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A
CNTN6	27255	genome.wustl.edu	37	3	1262380	1262380	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:1262380delT	ENST00000446702.2	+	3	692	c.65delT	c.(64-66)cttfs	p.L23fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.L23fs|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	23					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTGATGGTCTTTTAAGCCGT	0.333																																																	0													126.0	120.0	122.0					3																	1262380		2203	4300	6503	SO:0001589	frameshift_variant	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.65delT	3.37:g.1262380delT	ENSP00000407822:p.Leu23fs		Q2KHM2	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L23fs	ENST00000446702.2	37	c.65	CCDS2557.1	3																																																																																			CNTN6	-	NULL	ENSG00000134115		0.333	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2		0.00	103	0	T	NM_014461		1262380	+1	tier1		no_errors	ENST00000350110	ensembl	human	known	74_37	frame_shift_del	55.38	29	36	DEL	0.000	-
COL11A1	1301	genome.wustl.edu	37	1	103496728	103496728	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:103496728C>T	ENST00000370096.3	-	5	1036	c.724G>A	c.(724-726)Gac>Aac	p.D242N	COL11A1_ENST00000353414.4_Missense_Mutation_p.D242N|COL11A1_ENST00000358392.2_Missense_Mutation_p.D242N|COL11A1_ENST00000512756.1_Missense_Mutation_p.D242N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	242	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAGTCACAGTCTGGACTATAA	0.443																																																	0													109.0	97.0	101.0					1																	103496728		2203	4300	6503	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.724G>A	1.37:g.103496728C>T	ENSP00000359114:p.Asp242Asn		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.D242N	ENST00000370096.3	37	c.724	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404725	0.83230	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36;4.36	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);	0.052672	0.85682	D	0.000000	T	0.05456	0.0144	M	0.64997	1.995	0.80722	D	1	P;P;D;P	0.55385	0.734;0.93;0.971;0.884	B;P;P;P	0.55749	0.321;0.71;0.783;0.516	T	0.29882	-0.9997	10	0.62326	D	0.03	.	19.5892	0.95501	0.0:1.0:0.0:0.0	.	242;242;242;242	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	N	242;242;242;242;242;169	ENSP00000359114:D242N;ENSP00000351163:D242N;ENSP00000302551:D242N;ENSP00000426533:D242N;ENSP00000408640:D242N;ENSP00000410177:D169N	ENSP00000302551:D242N	D	-	1	0	COL11A1	103269316	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	7.372000	0.79612	2.631000	0.89168	0.551000	0.68910	GAC	COL11A1	-	superfamily_ConA-like_lec_gl_sf	ENSG00000060718		0.443	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0.00	17	0	C	NM_080630		103496728	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	T
COL4A5	1287	genome.wustl.edu	37	X	107923920	107923920	+	Silent	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:107923920C>T	ENST00000361603.2	+	43	4180	c.3936C>T	c.(3934-3936)ggC>ggT	p.G1312G	COL4A5_ENST00000328300.6_Silent_p.G1318G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1312	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTAATCCTGGCCGGCCGGGTC	0.413									Alport syndrome with Diffuse Leiomyomatosis																																								0													86.0	79.0	81.0					X																	107923920		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3936C>T	X.37:g.107923920C>T			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1318	ENST00000361603.2	37	c.3954	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen	ENSG00000188153		0.413	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2		0.00	22	0	C			107923920	+1			no_errors	ENST00000328300	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.511	T
CPNE4	131034	genome.wustl.edu	37	3	131254166	131254166	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:131254166G>T	ENST00000512055.1	-	20	3673	c.1547C>A	c.(1546-1548)cCa>cAa	p.P516Q	CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000502818.1_Missense_Mutation_p.P534Q|CPNE4_ENST00000429747.1_Missense_Mutation_p.P516Q|CPNE4_ENST00000512332.1_Missense_Mutation_p.P534Q|CPNE4_ENST00000511604.1_Missense_Mutation_p.P516Q			Q96A23	CPNE4_HUMAN	copine IV	516						extracellular vesicular exosome (GO:0070062)		p.P516L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CAGGGCAGCTGGAGATGCCTG	0.453																																																	1	Substitution - Missense(1)	lung(1)											101.0	95.0	97.0					3																	131254166		2203	4300	6503	SO:0001583	missense	0			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1547C>A	3.37:g.131254166G>T	ENSP00000421705:p.Pro516Gln		D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.P534Q	ENST00000512055.1	37	c.1601	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066827	0.55539	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.54479	0.58;0.58;0.57;0.58;0.57	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	L	0.41573	1.285	0.80722	D	1	D;D	0.65815	0.995;0.988	D;P	0.73380	0.98;0.873	T	0.58945	-0.7546	10	0.25751	T	0.34	-11.6104	18.8677	0.92300	0.0:0.0:1.0:0.0	.	534;516	Q96A23-2;Q96A23	.;CPNE4_HUMAN	Q	516;516;534;516;534	ENSP00000421705:P516Q;ENSP00000411904:P516Q;ENSP00000424853:P534Q;ENSP00000423811:P516Q;ENSP00000421646:P534Q	ENSP00000411904:P516Q	P	-	2	0	CPNE4	132736856	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.540000	0.82074	2.460000	0.83146	0.557000	0.71058	CCA	CPNE4	-	NULL	ENSG00000196353		0.453	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4		0.00	44	0	G	NM_130808		131254166	-1			no_errors	ENST00000502818	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
CRIM1	51232	genome.wustl.edu	37	2	36774143	36774143	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:36774143G>T	ENST00000280527.2	+	16	3130	c.2763G>T	c.(2761-2763)caG>caT	p.Q921H	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	921					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTCACCTCCAGGTAGATTACA	0.358																																																	0													88.0	88.0	88.0					2																	36774143		2203	4300	6503	SO:0001583	missense	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2763G>T	2.37:g.36774143G>T	ENSP00000280527:p.Gln921His		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.Q921H	ENST00000280527.2	37	c.2763	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061827	0.76187	.	.	ENSG00000150938	ENST00000280527	T	0.04862	3.54	5.81	5.81	0.92471	.	0.065426	0.64402	D	0.000008	T	0.09158	0.0226	L	0.29908	0.895	0.47994	D	0.999566	D	0.56521	0.976	P	0.50440	0.641	T	0.07578	-1.0765	10	0.45353	T	0.12	-9.7475	12.3835	0.55320	0.0761:0.0:0.9239:0.0	.	921	Q9NZV1	CRIM1_HUMAN	H	921	ENSP00000280527:Q921H	ENSP00000280527:Q921H	Q	+	3	2	CRIM1	36627647	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.272000	0.51616	2.736000	0.93811	0.655000	0.94253	CAG	CRIM1	-	NULL	ENSG00000150938		0.358	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	-	0.00	42	0	G	NM_016441		36774143	+1	tier1	-	no_errors	ENST00000280527	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
CRIP3	401262	genome.wustl.edu	37	6	43273755	43273755	+	Silent	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:43273755T>C	ENST00000274990.4	-	7	607	c.603A>G	c.(601-603)gtA>gtG	p.V201V	ZNF318_ENST00000607252.1_5'Flank|CRIP3_ENST00000372569.3_Intron			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	201					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTACATGCCATACTTCAGGCA	0.587																																																	0													56.0	56.0	56.0					6																	43273755		2203	4300	6503	SO:0001819	synonymous_variant	0			AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.603A>G	6.37:g.43273755T>C			A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.V201	ENST00000274990.4	37	c.603		6																																																																																			CRIP3	-	NULL	ENSG00000146215		0.587	CRIP3-004	KNOWN	basic	protein_coding	CRIP3	HGNC	protein_coding	OTTHUMT00000313968.1	-	0.00	24	0	T			43273755	-1	tier1	-	no_errors	ENST00000274990	ensembl	human	known	74_37	silent	80.00	3	12	SNP	0.039	C
CTNNB1	1499	genome.wustl.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	rs121913416|rs121913403		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:41266113C>T	ENST00000349496.5	+	3	390	c.110C>T	c.(109-111)tCt>tTt	p.S37F	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGAATCCATTCTGGTGCCACT	0.498	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	474	Substitution - Missense(344)|Deletion - In frame(102)|Complex - deletion inframe(18)|Unknown(7)|Deletion - Frameshift(3)	liver(145)|endometrium(64)|stomach(38)|skin(34)|ovary(33)|central_nervous_system(28)|pancreas(28)|large_intestine(22)|pituitary(22)|lung(21)|biliary_tract(15)|thyroid(4)|soft_tissue(4)|urinary_tract(4)|small_intestine(3)|oesophagus(3)|adrenal_gland(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)|breast(1)											93.0	78.0	83.0					3																	41266113		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.110C>T	3.37:g.41266113C>T	ENSP00000344456:p.Ser37Phe		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S37F	ENST00000349496.5	37	c.110	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513375	0.85389	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75297	-0.3367	10	0.87932	D	0	-15.9763	19.9596	0.97236	0.0:1.0:0.0:0.0	.	37	P35222	CTNB1_HUMAN	F	30;37;37;37;37;30;37;37;37	ENSP00000400508:S30F;ENSP00000385604:S37F;ENSP00000412219:S37F;ENSP00000379486:S37F;ENSP00000344456:S37F;ENSP00000411226:S30F;ENSP00000379488:S37F;ENSP00000409302:S37F;ENSP00000401599:S37F	ENSP00000344456:S37F	S	+	2	0	CTNNB1	41241117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT	CTNNB1	-	NULL	ENSG00000168036		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	-	0.00	58	0	C	NM_001098210		41266113	+1	tier1	rs121913403	no_errors	ENST00000349496	ensembl	human	known	74_37	missense	12.50	56	8	SNP	1.000	T
CUL9	23113	genome.wustl.edu	37	6	43172752	43172752	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:43172752G>A	ENST00000252050.4	+	23	4615	c.4531G>A	c.(4531-4533)Gca>Aca	p.A1511T	CUL9_ENST00000372647.2_Missense_Mutation_p.A1511T|CUL9_ENST00000354495.3_Missense_Mutation_p.A1401T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1511					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTTGCAGAGAGCAGGCTCCGA	0.582																																																	0													86.0	90.0	89.0					6																	43172752		2203	4300	6503	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4531G>A	6.37:g.43172752G>A	ENSP00000252050:p.Ala1511Thr		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.A1511T	ENST00000252050.4	37	c.4531	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047908	0.93740	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73575	-0.76;-0.76;-0.76	5.07	5.07	0.68467	Cullin, N-terminal (1);	0.250080	0.39020	N	0.001491	T	0.79736	0.4497	M	0.61703	1.905	0.52501	D	0.999955	D;D;D	0.69078	0.997;0.994;0.994	D;D;D	0.77557	0.99;0.981;0.981	T	0.82317	-0.0517	10	0.87932	D	0	-9.0666	11.898	0.52667	0.0801:0.0:0.9199:0.0	.	1401;1511;1511	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	T	1511;1401;1511	ENSP00000252050:A1511T;ENSP00000346490:A1401T;ENSP00000361730:A1511T	ENSP00000252050:A1511T	A	+	1	0	CUL9	43280730	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.343000	0.65976	2.376000	0.81061	0.462000	0.41574	GCA	CUL9	-	pfam_Cullin_N	ENSG00000112659		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	-	0.00	29	0	G	NM_015089		43172752	+1	tier1	-	no_errors	ENST00000252050	ensembl	human	known	74_37	missense	73.33	8	22	SNP	0.998	A
DHX9	1660	genome.wustl.edu	37	1	182828173	182828173	+	Splice_Site	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:182828173A>G	ENST00000367549.3	+	11	1172		c.e11-1			NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9						ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTTGTTTTACAGGCTACTCCA	0.338																																					Colon(69;210 1162 3697 13559 39565)												0													114.0	99.0	103.0					1																	182828173		1830	4098	5928	SO:0001630	splice_region_variant	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1063-1A>G	1.37:g.182828173A>G			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Splice_Site	SNP	-	e10-2	ENST00000367549.3	37	c.1063-2	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021716	0.75275	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7592	0.78063	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX9	181094796	1.000000	0.71417	0.959000	0.39883	0.955000	0.61496	6.027000	0.70881	2.248000	0.74166	0.460000	0.39030	.	DHX9	-	-	ENSG00000135829		0.338	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	-	0.00	47	0	A	NM_030588	Intron	182828173	+1	tier1	-	no_errors	ENST00000367549	ensembl	human	known	74_37	splice_site	7.14	52	4	SNP	1.000	G
DLG5	9231	genome.wustl.edu	37	10	79576821	79576821	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:79576821C>T	ENST00000372391.2	-	19	3823	c.3818G>A	c.(3817-3819)cGc>cAc	p.R1273H	DLG5_ENST00000372388.2_Missense_Mutation_p.R933H|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1273					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GATTTTAATGCGTTCCGCCTT	0.498																																																	0													206.0	182.0	190.0					10																	79576821		2203	4300	6503	SO:0001583	missense	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3818G>A	10.37:g.79576821C>T	ENSP00000361467:p.Arg1273His		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R1273H	ENST00000372391.2	37	c.3818	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	34	5.380721	0.95945	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.10099	2.91;3.2;3.26	5.55	5.55	0.83447	.	0.000000	0.39020	N	0.001485	T	0.29817	0.0745	L	0.47190	1.495	0.47905	D	0.999549	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.997;0.966	T	0.00589	-1.1656	10	0.72032	D	0.01	.	19.518	0.95171	0.0:1.0:0.0:0.0	.	1163;1273;933	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	H	1273;234;933	ENSP00000361467:R1273H;ENSP00000394797:R234H;ENSP00000361464:R933H	ENSP00000361464:R933H	R	-	2	0	DLG5	79246827	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	7.294000	0.78760	2.615000	0.88500	0.650000	0.86243	CGC	DLG5	-	NULL	ENSG00000151208		0.498	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2		0.00	37	0	C			79576821	-1			no_errors	ENST00000372391	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
DLG5	9231	genome.wustl.edu	37	10	79595550	79595550	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:79595550C>T	ENST00000372391.2	-	8	1573	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q	DLG5_ENST00000372388.2_Missense_Mutation_p.R523Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	523					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGCCCAGTCCCGCCGGCACTT	0.602																																																	0													76.0	62.0	67.0					10																	79595550		2203	4300	6503	SO:0001583	missense	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1568G>A	10.37:g.79595550C>T	ENSP00000361467:p.Arg523Gln		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R523Q	ENST00000372391.2	37	c.1568	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	36	5.626822	0.96671	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.10099	2.91;2.97	5.8	5.8	0.92144	.	0.000000	0.35615	N	0.003097	T	0.35068	0.0919	M	0.69358	2.11	0.41804	D	0.989939	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.933	T	0.01570	-1.1322	10	0.66056	D	0.02	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	413;523;523	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	Q	523	ENSP00000361467:R523Q;ENSP00000361464:R523Q	ENSP00000361464:R523Q	R	-	2	0	DLG5	79265556	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.735000	0.93741	0.655000	0.94253	CGG	DLG5	-	NULL	ENSG00000151208		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	-	0.00	40	0	C			79595550	-1	tier1	-	no_errors	ENST00000372391	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51742397	51742397	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:51742397C>T	ENST00000251076.5	-	42	9117	c.8830G>A	c.(8830-8832)Gct>Act	p.A2944T	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.A2945T|DMXL2_ENST00000449909.3_Missense_Mutation_p.A2308T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2944						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCCTTAATAGCTGAGTCATGG	0.478																																																	0													116.0	102.0	107.0					15																	51742397		2196	4293	6489	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8830G>A	15.37:g.51742397C>T	ENSP00000251076:p.Ala2944Thr		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2945T	ENST00000251076.5	37	c.8833	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453866	0.63290	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.42131	0.98;0.98;0.98	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.43598	1.365	0.58432	D	0.999997	P;D;P;B	0.61080	0.767;0.989;0.919;0.028	B;P;P;B	0.54499	0.273;0.754;0.61;0.042	T	0.21042	-1.0257	10	0.21540	T	0.41	.	15.0111	0.71550	0.1429:0.8571:0.0:0.0	.	2945;2308;2944;2945	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	T	2944;2945;2308;510	ENSP00000251076:A2944T;ENSP00000441858:A2945T;ENSP00000400855:A2308T	ENSP00000251076:A2944T	A	-	1	0	DMXL2	49529689	0.997000	0.39634	0.227000	0.23927	0.984000	0.73092	3.629000	0.54266	2.554000	0.86153	0.655000	0.94253	GCT	DMXL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000104093		0.478	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2		0.00	60	0	C	NM_015263		51742397	-1			no_errors	ENST00000543779	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.994	T
DMXL2	23312	genome.wustl.edu	37	15	51828604	51828604	+	Silent	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:51828604T>C	ENST00000251076.5	-	12	2360	c.2073A>G	c.(2071-2073)agA>agG	p.R691R	DMXL2_ENST00000543779.2_Silent_p.R691R|DMXL2_ENST00000449909.3_Silent_p.R691R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	691						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGTCCATTAATCTACTTAATT	0.368																																																	0													119.0	122.0	121.0					15																	51828604		2195	4293	6488	SO:0001819	synonymous_variant	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2073A>G	15.37:g.51828604T>C			B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R691	ENST00000251076.5	37	c.2073	CCDS10141.1	15																																																																																			DMXL2	-	NULL	ENSG00000104093		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0.00	34	0	T	NM_015263		51828604	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	silent	23.40	36	11	SNP	0.000	C
DNAH14	127602	genome.wustl.edu	37	1	225211320	225211320	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:225211320G>T	ENST00000445597.2	+	9	1168	c.1168G>T	c.(1168-1170)Gca>Tca	p.A390S	DNAH14_ENST00000366849.1_Missense_Mutation_p.A348S|DNAH14_ENST00000439375.2_Missense_Mutation_p.A371S|DNAH14_ENST00000400952.3_Missense_Mutation_p.A371S|DNAH14_ENST00000430092.1_Missense_Mutation_p.A371S			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	390					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A371S(1)|p.A390S(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ATTGTAGGTTGCAGAAAAGAA	0.269																																																	2	Substitution - Missense(2)	endometrium(2)											61.0	54.0	56.0					1																	225211320		692	1588	2280	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1168G>T	1.37:g.225211320G>T	ENSP00000409472:p.Ala390Ser		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.A371S	ENST00000445597.2	37	c.1111		1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748653	0.69533	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000400952;ENST00000366849;ENST00000439375	T;T;T;T;T	0.36340	1.47;1.36;1.3;1.26;1.36	5.37	4.44	0.53790	.	0.000000	0.56097	D	0.000033	T	0.39462	0.1079	L	0.34521	1.04	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.978	P;P;P	0.57425	0.728;0.82;0.539	T	0.08391	-1.0724	10	0.21014	T	0.42	.	11.5844	0.50910	0.0:0.0:0.8215:0.1785	.	371;371;390	Q0VDD8-4;Q0VDD8-2;Q0VDD8	.;.;DYH14_HUMAN	S	390;371;371;348;371	ENSP00000409472:A390S;ENSP00000414402:A371S;ENSP00000383737:A371S;ENSP00000355814:A348S;ENSP00000392061:A371S	ENSP00000355814:A348S	A	+	1	0	DNAH14	223277943	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	5.030000	0.64128	1.357000	0.45904	0.514000	0.50259	GCA	DNAH14	-	NULL	ENSG00000185842		0.269	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3		0.00	38	0	G	XM_059166		225211320	+1			no_errors	ENST00000430092	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.999	T
DNAH7	56171	genome.wustl.edu	37	2	196788460	196788460	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:196788460C>A	ENST00000312428.6	-	23	3784	c.3684G>T	c.(3682-3684)ttG>ttT	p.L1228F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1228	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTGCATGGACAATTTGCCAC	0.378																																																	0													117.0	108.0	111.0					2																	196788460		1971	4163	6134	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3684G>T	2.37:g.196788460C>A	ENSP00000311273:p.Leu1228Phe		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L1228F	ENST00000312428.6	37	c.3684	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040798	0.35989	.	.	ENSG00000118997	ENST00000312428	T	0.64991	-0.13	5.03	0.709	0.18150	.	0.000000	0.64402	D	0.000007	D	0.84124	0.5403	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80621	-0.1301	10	0.87932	D	0	.	5.4733	0.16682	0.0:0.5659:0.1337:0.3004	.	1228	Q8WXX0	DYH7_HUMAN	F	1228	ENSP00000311273:L1228F	ENSP00000311273:L1228F	L	-	3	2	DNAH7	196496705	0.956000	0.32656	0.996000	0.52242	0.068000	0.16541	0.121000	0.15667	0.216000	0.20781	0.655000	0.94253	TTG	DNAH7	-	NULL	ENSG00000118997		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0.00	22	0	C	NM_018897		196788460	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.985	A
DNAH9	1770	genome.wustl.edu	37	17	11713657	11713657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:11713657delT	ENST00000262442.4	+	45	8746	c.8678delT	c.(8677-8679)cttfs	p.L2893fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.L2893fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2893	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGAGGTTCCTTGTGCTCATC	0.458																																																	0													183.0	167.0	172.0					17																	11713657		2203	4300	6503	SO:0001589	frameshift_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8678delT	17.37:g.11713657delT	ENSP00000262442:p.Leu2893fs		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V2894fs	ENST00000262442.4	37	c.8678	CCDS11160.1	17																																																																																			DNAH9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0.00	55	0	T	NM_001372		11713657	+1	tier1		no_errors	ENST00000262442	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	0.999	-
DNMBP	23268	genome.wustl.edu	37	10	101654708	101654708	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:101654708T>C	ENST00000324109.4	-	11	3242	c.3151A>G	c.(3151-3153)Atc>Gtc	p.I1051V	DNMBP_ENST00000543621.1_Missense_Mutation_p.I297V|DNMBP_ENST00000342239.3_Missense_Mutation_p.I1075V|DNMBP_ENST00000540316.1_5'UTR	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1051	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTCACCCGGATGTGCTGGAGG	0.368																																																	0													132.0	111.0	118.0					10																	101654708		2203	4300	6503	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3151A>G	10.37:g.101654708T>C	ENSP00000315659:p.Ile1051Val		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.I1075V	ENST00000324109.4	37	c.3223	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	T	13.30	2.195406	0.38806	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.64803	-0.12;-0.12;-0.12	5.77	5.77	0.91146	BAR (3);	0.000000	0.50627	D	0.000120	T	0.43010	0.1228	N	0.24115	0.695	0.80722	D	1	B;B;B	0.29253	0.239;0.005;0.239	B;B;B	0.33454	0.164;0.023;0.164	T	0.36237	-0.9756	10	0.08599	T	0.76	-21.8613	6.5391	0.22370	0.0:0.1934:0.0:0.8066	.	1051;297;1075	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	V	1075;1051;297;297	ENSP00000344914:I1075V;ENSP00000315659:I1051V;ENSP00000443657:I297V	ENSP00000315659:I1051V	I	-	1	0	DNMBP	101644698	0.991000	0.36638	1.000000	0.80357	0.938000	0.57974	2.384000	0.44362	2.201000	0.70794	0.528000	0.53228	ATC	DNMBP	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000107554		0.368	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	-	0.00	43	0	T	NM_015221		101654708	-1	tier1	-	no_errors	ENST00000342239	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	C
DOCK1	1793	genome.wustl.edu	37	10	128830467	128830467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:128830467G>T	ENST00000280333.6	+	18	1841	c.1732G>T	c.(1732-1734)Gaa>Taa	p.E578*		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	578	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGCAGAGTTGGAAGAAAAGGG	0.557																																																	0													27.0	28.0	28.0					10																	128830467		2113	4232	6345	SO:0001587	stop_gained	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1732G>T	10.37:g.128830467G>T	ENSP00000280333:p.Glu578*		A9Z1Z5	Nonsense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.E578*	ENST00000280333.6	37	c.1732		10	.	.	.	.	.	.	.	.	.	.	G	38	6.834245	0.97873	.	.	ENSG00000150760	ENST00000280333	.	.	.	3.85	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	17.1159	0.86688	0.0:0.0:1.0:0.0	.	.	.	.	X	578	.	ENSP00000280333:E578X	E	+	1	0	DOCK1	128720457	1.000000	0.71417	0.234000	0.24042	0.376000	0.30014	7.173000	0.77612	2.415000	0.81967	0.655000	0.94253	GAA	DOCK1	-	NULL	ENSG00000150760		0.557	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2		0.00	22	0	G	NM_001380		128830467	+1			no_errors	ENST00000280333	ensembl	human	known	74_37	nonsense	20.83	19	5	SNP	1.000	T
DOCK5	80005	genome.wustl.edu	37	8	25220658	25220658	+	Splice_Site	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:25220658G>A	ENST00000276440.7	+	29	3088		c.e29+1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5						positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTCAAAACAGGTGAGACAGCC	0.443																																					Pancreas(145;34 1887 3271 10937 30165)												0													113.0	114.0	114.0					8																	25220658		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3044+1G>A	8.37:g.25220658G>A			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Splice_Site	SNP	-	e29+1	ENST00000276440.7	37	c.3044+1	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334310	0.41297	.	.	ENSG00000147459	ENST00000276440;ENST00000444569	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1576	0.98120	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK5	25276575	1.000000	0.71417	0.998000	0.56505	0.150000	0.21749	9.429000	0.97481	2.773000	0.95371	0.650000	0.86243	.	DOCK5	-	-	ENSG00000147459		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2		0.00	35	0	G	NM_024940	Intron	25220658	+1			no_errors	ENST00000276440	ensembl	human	known	74_37	splice_site	9.09	40	4	SNP	1.000	A
DRP2	1821	genome.wustl.edu	37	X	100503183	100503183	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:100503183C>A	ENST00000395209.3	+	13	1885	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	DRP2_ENST00000538510.1_Missense_Mutation_p.A453D|DRP2_ENST00000402866.1_Missense_Mutation_p.A453D|DRP2_ENST00000541709.1_Missense_Mutation_p.A375D	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	453					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGCCTGACTGCCTTATATGAA	0.483																																																	0													257.0	210.0	226.0					X																	100503183		2203	4300	6503	SO:0001583	missense	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1358C>A	X.37:g.100503183C>A	ENSP00000378635:p.Ala453Asp		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.A453D	ENST00000395209.3	37	c.1358	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643266	0.67244	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.28	5.28	0.74379	EF-hand domain, type 1 (1);	0.170502	0.52532	D	0.000072	T	0.58395	0.2119	L	0.32530	0.975	0.50313	D	0.999867	P	0.37101	0.582	B	0.40444	0.329	T	0.63242	-0.6681	10	0.66056	D	0.02	-10.3851	18.0619	0.89380	0.0:1.0:0.0:0.0	.	453	Q13474	DRP2_HUMAN	D	453;453;375;453	ENSP00000385038:A453D;ENSP00000378635:A453D;ENSP00000444752:A375D;ENSP00000441051:A453D	ENSP00000378635:A453D	A	+	2	0	DRP2	100389839	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	4.851000	0.62896	2.200000	0.70718	0.513000	0.50165	GCC	DRP2	-	pfam_EF-hand_dom_typ1,pirsf_Dystrophin-related_2	ENSG00000102385		0.483	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	-	0.00	28	0	C	NM_001939		100503183	+1	tier1	-	no_errors	ENST00000395209	ensembl	human	known	74_37	missense	93.33	3	42	SNP	1.000	A
DSCR10	259234	genome.wustl.edu	37	21	39580612	39580612	+	lincRNA	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:39580612C>T	ENST00000432141.1	+	0	734					NR_027695.1		P59022	DSC10_HUMAN	Down syndrome critical region gene 10 (non-protein coding)																		CAAACAATATCTTTTAAAAAA	0.308																																																	0																																												0			AB066291		21q22.13	2012-10-16	2011-02-24		ENSG00000233316	ENSG00000233316		"""Long non-coding RNAs"""	16302	non-coding RNA	RNA, long non-coding			"""Down syndrome critical region gene 10"""			12168953	Standard	NR_027695		Approved		uc010gnt.2	P59022	OTTHUMG00000090611		21.37:g.39580612C>T			Q52LN2	RNA	SNP	-	NULL	ENST00000432141.1	37	NULL		21																																																																																			DSCR10	-	-	ENSG00000233316		0.308	DSCR10-001	KNOWN	basic	lincRNA	DSCR10	HGNC	lincRNA	OTTHUMT00000207199.1	-	0.00	29	0	C	NR_027695.1		39580612	+1	tier1	-	no_errors	ENST00000432141	ensembl	human	known	74_37	rna	30.30	23	10	SNP	0.000	T
DSG2	1829	genome.wustl.edu	37	18	29125877	29125877	+	Frame_Shift_Del	DEL	A	A	-	rs267605167		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:29125877delA	ENST00000261590.8	+	15	2737	c.2528delA	c.(2527-2529)caafs	p.Q843fs	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	843					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCCTGGGTCAAAAAATAGAT	0.378																																																	0													77.0	76.0	77.0					18																	29125877		1818	4079	5897	SO:0001589	frameshift_variant	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2528delA	18.37:g.29125877delA	ENSP00000261590:p.Gln843fs		Q4KKU6	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.I845fs	ENST00000261590.8	37	c.2528	CCDS42423.1	18																																																																																			DSG2	-	NULL	ENSG00000046604		0.378	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1		0.00	47	0	A	NM_001943		29125877	+1	tier1		no_errors	ENST00000261590	ensembl	human	known	74_37	frame_shift_del	15.00	17	3	DEL	0.333	-
DSEL	92126	genome.wustl.edu	37	18	65181739	65181739	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:65181739G>T	ENST00000310045.7	-	2	1610	c.137C>A	c.(136-138)aCa>aAa	p.T46K	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	36					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.T46I(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATATCATCTGTGAAAACTGC	0.333																																																	1	Substitution - Missense(1)	ovary(1)											101.0	96.0	97.0					18																	65181739		2203	4300	6503	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.137C>A	18.37:g.65181739G>T	ENSP00000310565:p.Thr46Lys		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.T46K	ENST00000310045.7	37	c.137	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793274	0.50102	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.24908	1.83	4.87	3.99	0.46301	.	0.217217	0.36234	U	0.002717	T	0.23410	0.0566	L	0.47716	1.5	0.31849	N	0.622468	B	0.17667	0.023	B	0.20767	0.031	T	0.18713	-1.0328	10	0.62326	D	0.03	-2.5467	9.9923	0.41879	0.1782:0.0:0.8218:0.0	.	36	Q8IZU8	DSEL_HUMAN	K	46;36	ENSP00000310565:T46K	ENSP00000310565:T46K	T	-	2	0	DSEL	63332719	1.000000	0.71417	0.609000	0.28983	0.891000	0.51852	5.403000	0.66338	1.059000	0.40554	0.561000	0.74099	ACA	DSEL	-	NULL	ENSG00000171451		0.333	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1		0.00	28	0	G	NM_032160		65181739	-1			no_errors	ENST00000310045	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.994	T
DUSP9	1852	genome.wustl.edu	37	X	152914771	152914771	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:152914771T>G	ENST00000342782.3	+	3	723	c.458T>G	c.(457-459)gTg>gGg	p.V153G	DUSP9_ENST00000370167.4_Missense_Mutation_p.V153G			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	153					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGGCGCCGGTGCCCGGTCCA	0.682																																																	0													24.0	25.0	25.0					X																	152914771		2202	4290	6492	SO:0001583	missense	0			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.458T>G	X.37:g.152914771T>G	ENSP00000345853:p.Val153Gly		D3DWU5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.V153G	ENST00000342782.3	37	c.458	CCDS14724.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	0.154|0.154	-1.088616|-1.088616	0.01873|0.01873	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000433144|ENST00000370167;ENST00000342782	.|T;T	.|0.48522	.|0.81;0.81	4.96|4.96	0.927|0.927	0.19437|0.19437	.|.	.|3.072370	.|0.00969	.|N	.|0.003208	T|T	0.32496|0.32496	0.0831|0.0831	N|N	0.19112|0.19112	0.55|0.55	0.23036|0.23036	N|N	0.998394|0.998394	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.10567|0.10567	-1.0624|-1.0624	5|10	.|0.17369	.|T	.|0.5	.|.	6.1887|6.1887	0.20512|0.20512	0.0:0.0853:0.3021:0.6127|0.0:0.0853:0.3021:0.6127	.|.	.|153	.|Q99956	.|DUS9_HUMAN	G|G	124|153	.|ENSP00000359186:V153G;ENSP00000345853:V153G	.|ENSP00000345853:V153G	C|V	+|+	1|2	0|0	DUSP9|DUSP9	152567965|152567965	0.014000|0.014000	0.17966|0.17966	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	0.244000|0.244000	0.18124|0.18124	-0.170000|-0.170000	0.10816|0.10816	0.430000|0.430000	0.28490|0.28490	TGC|GTG	DUSP9	-	pirsf_MKP	ENSG00000130829		0.682	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUSP9	HGNC	protein_coding	OTTHUMT00000061022.3	-	0.00	17	0	T	NM_001395		152914771	+1	tier1	-	no_errors	ENST00000342782	ensembl	human	known	74_37	missense	82.35	5	28	SNP	0.055	G
DYNC1H1	1778	genome.wustl.edu	37	14	102500661	102500661	+	Splice_Site	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:102500661G>A	ENST00000360184.4	+	56	10790		c.e56-1		DYNC1H1_ENST00000556791.1_Splice_Site|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTGCCTTTCAGTTCCGTACAG	0.517																																																	1	Unknown(1)	central_nervous_system(1)											117.0	93.0	101.0					14																	102500661		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10627-1G>A	14.37:g.102500661G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	-	e56-1	ENST00000360184.4	37	c.10627-1	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422610	0.83559	.	.	ENSG00000197102	ENST00000360184;ENST00000553423	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8062	0.92038	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101570414	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.755000	0.98912	2.538000	0.85594	0.591000	0.81541	.	DYNC1H1	-	-	ENSG00000197102		0.517	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1		0.00	40	0	G	NM_001376	Intron	102500661	+1			no_errors	ENST00000360184	ensembl	human	known	74_37	splice_site	5.71	32	2	SNP	1.000	A
DYNC2H1	79659	genome.wustl.edu	37	11	103044888	103044888	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:103044888C>G	ENST00000375735.2	+	36	5807	c.5663C>G	c.(5662-5664)aCt>aGt	p.T1888S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T1888S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1888					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAAAGTGGCACTACACAGAAT	0.333																																																	0													82.0	73.0	76.0					11																	103044888		1840	4085	5925	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5663C>G	11.37:g.103044888C>G	ENSP00000364887:p.Thr1888Ser		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1888S	ENST00000375735.2	37	c.5663	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	2.778	-0.254128	0.05829	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26810	1.71;1.71	5.87	-3.32	0.04973	.	.	.	.	.	T	0.10809	0.0264	N	0.20881	0.62	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.37663	-0.9696	9	0.09084	T	0.74	.	2.4028	0.04406	0.1017:0.2565:0.2035:0.4382	.	1888;1888	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	1888	ENSP00000364887:T1888S;ENSP00000381167:T1888S	ENSP00000364887:T1888S	T	+	2	0	DYNC2H1	102550098	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	-0.063000	0.11655	-0.432000	0.07297	-0.225000	0.12378	ACT	DYNC2H1	-	NULL	ENSG00000187240		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	58	0	C	XM_370652		103044888	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	51.52	16	17	SNP	0.000	G
E2F4	1874	genome.wustl.edu	37	16	67229794	67229796	+	In_Frame_Del	DEL	CAG	CAG	-	rs3830472|rs562856782		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:67229794_67229796delCAG	ENST00000379378.3	+	7	977_979	c.918_920delCAG	c.(916-921)gacagc>gac	p.S319del		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	319	Poly-Ser.		S -> SSSS.		blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S319_N320insS(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CCCTGCTGGAcagcagcagcagc	0.601																																																	1	Insertion - In frame(1)	breast(1)																																								SO:0001651	inframe_deletion	0			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.918_920delCAG	16.37:g.67229803_67229805delCAG	ENSP00000368686:p.Ser319del		A6NGR8|B5BU56|Q12991|Q15328	In_Frame_Del	DEL	pfam_E2F_TDP	p.S310in_frame_del	ENST00000379378.3	37	c.918_920	CCDS32464.1	16																																																																																			E2F4	-	NULL	ENSG00000205250		0.601	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	HGNC	protein_coding	OTTHUMT00000421565.1		0.00	56	0	CAG	NM_001950		67229796	+1	tier1		no_errors	ENST00000379378	ensembl	human	known	74_37	in_frame_del	10.14	62	7	DEL	0.995:0.995:0.995	-
EFCAB6	64800	genome.wustl.edu	37	22	44031041	44031041	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr22:44031041G>T	ENST00000262726.7	-	18	2292	c.2039C>A	c.(2038-2040)aCt>aAt	p.T680N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.T528N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	680			T -> A (in dbSNP:rs137731). {ECO:0000269|PubMed:14702039}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCCTATTTTAGTGGTCAGCAG	0.542																																																	0													249.0	186.0	207.0					22																	44031041		2203	4300	6503	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2039C>A	22.37:g.44031041G>T	ENSP00000262726:p.Thr680Asn		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.T680N	ENST00000262726.7	37	c.2039	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	0.509	-0.867187	0.02590	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.54279	0.58;0.58	5.13	0.324	0.15898	EF-hand-like domain (1);	1.062760	0.07375	N	0.886417	T	0.28665	0.0710	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.15484	0.013	T	0.21143	-1.0254	10	0.15499	T	0.54	-2.5597	7.3354	0.26607	0.0:0.2625:0.3496:0.3879	.	680	Q5THR3	EFCB6_HUMAN	N	528;680	ENSP00000379533:T528N;ENSP00000262726:T680N	ENSP00000262726:T680N	T	-	2	0	EFCAB6	42362374	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	0.482000	0.22276	0.321000	0.23259	-0.305000	0.09177	ACT	EFCAB6	-	NULL	ENSG00000186976		0.542	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	-	0.00	56	0	G	NM_022785		44031041	-1	tier1	-	no_errors	ENST00000262726	ensembl	human	known	74_37	missense	16.42	56	11	SNP	0.000	T
EFCAB6	64800	genome.wustl.edu	37	22	44112835	44112835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr22:44112835G>A	ENST00000262726.7	-	9	1028	c.775C>T	c.(775-777)Caa>Taa	p.Q259*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.Q107*|EFCAB6_ENST00000356087.4_Nonsense_Mutation_p.Q153*|EFCAB6_ENST00000358439.4_Nonsense_Mutation_p.Q153*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTGGCTTGTTGATTCTCCAAC	0.343																																																	0													102.0	92.0	96.0					22																	44112835		2202	4300	6502	SO:0001587	stop_gained	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.775C>T	22.37:g.44112835G>A	ENSP00000262726:p.Gln259*		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q259*	ENST00000262726.7	37	c.775	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201875	0.79127	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	.	.	.	3.9	3.9	0.45041	.	0.267808	0.28555	N	0.014930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-6.1267	11.6975	0.51553	0.0:0.0:1.0:0.0	.	.	.	.	X	107;259;153;153	.	ENSP00000262726:Q259X	Q	-	1	0	EFCAB6	42444168	0.007000	0.16637	0.038000	0.18304	0.059000	0.15707	1.633000	0.37113	2.470000	0.83445	0.591000	0.81541	CAA	EFCAB6	-	NULL	ENSG00000186976		0.343	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	-	0.00	95	0	G	NM_022785		44112835	-1	tier1	-	no_errors	ENST00000262726	ensembl	human	known	74_37	nonsense	21.43	66	18	SNP	0.047	A
EID2B	126272	genome.wustl.edu	37	19	40023426	40023426	+	Missense_Mutation	SNP	C	C	T	rs533129244		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:40023426C>T	ENST00000326282.4	-	1	68	c.17G>A	c.(16-18)gGg>gAg	p.G6E	EID2B_ENST00000601837.1_5'UTR|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCAACAGCCCAGTCGGCTC	0.652											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22.0	25.0	24.0					19																	40023426		2134	4163	6297	SO:0001583	missense	0			AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.17G>A	19.37:g.40023426C>T	ENSP00000317564:p.Gly6Glu	890		Missense_Mutation	SNP	NULL	p.G6E	ENST00000326282.4	37	c.17	CCDS12539.1	19	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365750	0.41902	.	.	ENSG00000176401	ENST00000326282	T	0.35973	1.28	2.09	-4.17	0.03857	.	.	.	.	.	T	0.19565	0.0470	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.20505	-1.0273	9	0.59425	D	0.04	.	4.7916	0.13252	0.0:0.3532:0.2336:0.4131	.	6	Q96D98	EID2B_HUMAN	E	6	ENSP00000317564:G6E	ENSP00000317564:G6E	G	-	2	0	EID2B	44715266	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.164000	0.03135	-1.003000	0.03425	-0.518000	0.04402	GGG	EID2B	-	NULL	ENSG00000176401		0.652	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID2B	HGNC	protein_coding	OTTHUMT00000464961.1	-	0.00	26	0	C	NM_152361		40023426	-1	tier1	-	no_errors	ENST00000326282	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.000	T
EIF1	10209	genome.wustl.edu	37	17	39845268	39845268	+	5'UTR	SNP	C	C	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:39845268C>A	ENST00000469257.1	+	0	124				JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_3'UTR|EIF1_ENST00000591776.1_5'UTR			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCCGTTTCCACCGAGGAAAAG	0.667																																					Pancreas(176;1692 2837 16734 17588)												0													32.0	31.0	31.0					17																	39845268		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.-23C>A	17.37:g.39845268C>A			Q9UNQ9	RNA	SNP	-	NULL	ENST00000469257.1	37	NULL	CCDS11403.1	17																																																																																			EIF1	-	-	ENSG00000173812		0.667	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1	HGNC	protein_coding	OTTHUMT00000257390.1	-	0.00	69	0	C	NM_005801		39845268	+1	tier1	-	no_errors	ENST00000310837	ensembl	human	known	74_37	rna	5.71	99	6	SNP	1.000	A
EIF4G3	8672	genome.wustl.edu	37	1	21205816	21205816	+	Splice_Site	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:21205816C>T	ENST00000264211.8	-	14	2648	c.2454G>A	c.(2452-2454)acG>acA	p.T818T	EIF4G3_ENST00000536266.1_Splice_Site_p.T422T|EIF4G3_ENST00000602326.1_Splice_Site_p.T824T|EIF4G3_ENST00000374937.3_Splice_Site_p.T824T|EIF4G3_ENST00000400422.1_Splice_Site_p.T818T|EIF4G3_ENST00000374935.3_Splice_Site_p.T538T|EIF4G3_ENST00000537738.1_Splice_Site_p.T308T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	818	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T824T(1)|p.T818T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTCTTCTTACCGTTACTAGAC	0.443																																																	2	Substitution - coding silent(2)	lung(2)											116.0	117.0	116.0					1																	21205816		2203	4300	6503	SO:0001630	splice_region_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2454+1G>A	1.37:g.21205816C>T			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.T824	ENST00000264211.8	37	c.2472	CCDS214.1	1																																																																																			EIF4G3	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000075151		0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3		0.00	34	0	C	NM_003760	Silent	21205816	-1			no_errors	ENST00000374937	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T
EMR1	2015	genome.wustl.edu	37	19	6916316	6916316	+	Missense_Mutation	SNP	T	T	G	rs146387629		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:6916316T>G	ENST00000312053.4	+	12	1394	c.1357T>G	c.(1357-1359)Ttg>Gtg	p.L453V	EMR1_ENST00000381407.5_Missense_Mutation_p.L312V|EMR1_ENST00000450315.3_Missense_Mutation_p.L276V|EMR1_ENST00000250572.8_Missense_Mutation_p.L453V|EMR1_ENST00000381404.4_Missense_Mutation_p.L401V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	453	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GACGTTGGACTTGGTAGCCAA	0.443																																																	0								T	VAL/LEU	0,4406		0,0,2203	185.0	167.0	173.0		1357	-0.7	0.0	19	dbSNP_134	173	2,8598	2.2+/-6.3	0,2,4298	no	missense	EMR1	NM_001974.3	32	0,2,6501	GG,GT,TT		0.0233,0.0,0.0154	possibly-damaging	453/887	6916316	2,13004	2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1357T>G	19.37:g.6916316T>G	ENSP00000311545:p.Leu453Val		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.L453V	ENST00000312053.4	37	c.1357	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926019	0.34002	0.0	2.33E-4	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.79352	-1.14;-1.19;-1.26;0.01;0.36	4.67	-0.689	0.11313	.	.	.	.	.	T	0.79896	0.4525	M	0.70275	2.135	0.09310	N	1	D;D;P;P;P	0.58268	0.982;0.962;0.925;0.952;0.877	P;P;P;B;B	0.57425	0.82;0.608;0.453;0.368;0.265	T	0.66787	-0.5835	9	0.39692	T	0.17	.	3.7903	0.08718	0.1888:0.4387:0.0:0.3724	.	276;312;453;401;453	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	V	453;453;401;453;312;276	ENSP00000311545:L453V;ENSP00000370811:L401V;ENSP00000250572:L453V;ENSP00000370814:L312V;ENSP00000405974:L276V	ENSP00000250572:L453V	L	+	1	2	EMR1	6867316	0.005000	0.15991	0.038000	0.18304	0.001000	0.01503	-0.168000	0.09925	-0.229000	0.09854	-0.326000	0.08463	TTG	EMR1	-	NULL	ENSG00000174837		0.443	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	-	0.00	66	0	T			6916316	+1	tier1	rs146387629	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.004	G
ENPEP	2028	genome.wustl.edu	37	4	111431406	111431406	+	Silent	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:111431406T>C	ENST00000265162.5	+	6	1542	c.1200T>C	c.(1198-1200)ttT>ttC	p.F400F	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	400					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTCAGTGGTTTGGAAATATTG	0.373																																																	0													194.0	195.0	195.0					4																	111431406		2203	4300	6503	SO:0001819	synonymous_variant	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1200T>C	4.37:g.111431406T>C			Q504U2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F400	ENST00000265162.5	37	c.1200	CCDS3691.1	4																																																																																			ENPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000138792		0.373	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	-	0.00	103	0	T			111431406	+1	tier1	-	no_errors	ENST00000265162	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	C
LINC01164	399827	genome.wustl.edu	37	10	133608246	133608246	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:133608246C>T	ENST00000341866.3	-	3	718	c.130G>A	c.(130-132)Gcc>Acc	p.A44T																								CGCAGAGAGGCGAGGGTCCCA	0.642																																																	0																																										SO:0001583	missense	0																														ENST00000341866.3:c.130G>A	10.37:g.133608246C>T	ENSP00000340261:p.Ala44Thr			Missense_Mutation	SNP	NULL	p.A44T	ENST00000341866.3	37	c.130		10	.	.	.	.	.	.	.	.	.	.	c	8.128	0.782386	0.16189	.	.	ENSG00000189275	ENST00000341866	.	.	.	1.26	-2.51	0.06365	.	.	.	.	.	T	0.33644	0.0870	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35943	-0.9768	5	0.87932	D	0	.	3.0144	0.06054	0.0:0.3095:0.2341:0.4564	.	.	.	.	T	44	.	ENSP00000340261:A44T	A	-	1	0	AL450307.1	133458236	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	-1.394000	0.02077	-0.642000	0.03964	GCC	AL450307.1	-	NULL	ENSG00000189275		0.642	AL450307.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000189275	Clone_based_ensembl_gene	protein_coding		-	0.00	71	0	C			133608246	-1	tier1	-	no_errors	ENST00000341866	ensembl	human	known	74_37	missense	26.92	57	21	SNP	0.000	T
Unknown	0	genome.wustl.edu	37	GL000192.1	208176	208176	+	IGR	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrGL000192.1:208176G>A								None (None upstream) : None (None downstream)																							TCTTCTATGAGATACTGCTGA	0.438																																																	0																																										SO:0001628	intergenic_variant	0																															GL000192.1.37:g.208176G>A				Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.L171F		37	c.511		GL000192.1																																																																																			AL360154.1	-	NULL	ENSG00000215642	0	0.438					ENSG00000215642	Clone_based_ensembl_gene			-	0.00	52	0	G			208176	-1	tier1	-	no_errors	ENST00000545452	ensembl	human	novel	74_37	missense	42.22	26	19	SNP	NULL	A
RP3-470B24.5	0	genome.wustl.edu	37	6	168376823	168376823	+	lincRNA	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:168376823C>T	ENST00000538528.1	-	0	796																											GGGGTCACTCCCCCTGCAGTG	0.602																																																	0													30.0	30.0	30.0					6																	168376823		692	1591	2283			0																															6.37:g.168376823C>T				RNA	SNP	-	NULL	ENST00000538528.1	37	NULL		6																																																																																			RP3-470B24.5	-	-	ENSG00000235994		0.602	RP3-470B24.5-201	KNOWN	basic	lincRNA	ENSG00000235994	Clone_based_vega_gene	lincRNA		-	0.00	92	0	C			168376823	-1	tier1	-	no_errors	ENST00000538528	ensembl	human	known	74_37	rna	10.81	66	8	SNP	0.982	T
RPL32P9	100270992	genome.wustl.edu	37	3	149868552	149868552	+	RNA	SNP	A	A	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:149868552A>C	ENST00000489690.1	+	0	212				RP11-167H9.4_ENST00000487840.1_RNA|RP11-167H9.4_ENST00000472821.1_RNA																							TGGCTTCCAAAAATTCCTGTT	0.463																																																	0																																												0																															3.37:g.149868552A>C				RNA	SNP	-	NULL	ENST00000489690.1	37	NULL		3																																																																																			RP11-167H9.4	-	-	ENSG00000243944		0.463	RP11-167H9.4-002	KNOWN	basic|exp_conf	antisense	ENSG00000243944	Clone_based_vega_gene	antisense	OTTHUMT00000357119.1	-	0.00	9	0	A			149868552	+1	tier1	-	no_errors	ENST00000472821	ensembl	human	known	74_37	rna	33.33	8	4	SNP	0.997	C
NARS2	79731	genome.wustl.edu	37	11	78154810	78154811	+	Intron	INS	-	-	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:78154810_78154811insA	ENST00000281038.5	-	12	1540				RP11-452H21.1_ENST00000534168.1_RNA|NARS2_ENST00000528850.1_Intron	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GCAACCTAAGGAAAAAAAAAAA	0.396																																																	0																																										SO:0001627	intron_variant	0			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1165-6->T	11.37:g.78154821_78154821dupA			G3V178	RNA	INS	-	NULL	ENST00000281038.5	37	NULL	CCDS8261.1	11																																																																																			RP11-452H21.1	-	-	ENSG00000254420		0.396	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254420	Clone_based_vega_gene	protein_coding	OTTHUMT00000391138.2		0.00	24	0	-	NM_024678		78154811	+1	tier1		no_errors	ENST00000534168	ensembl	human	known	74_37	rna	10.53	17	2	INS	0.247:0.000	A
RP11-652G5.1	0	genome.wustl.edu	37	16	32618959	32618959	+	RNA	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:32618959G>T	ENST00000562976.1	+	0	494																											TCACCTGAGGGATTCACTCCG	0.552																																																	0																																												0																															16.37:g.32618959G>T				RNA	SNP	-	NULL	ENST00000562976.1	37	NULL		16																																																																																			RP11-652G5.1	-	-	ENSG00000259966		0.552	RP11-652G5.1-002	KNOWN	basic	processed_transcript	ENSG00000259966	Clone_based_vega_gene	pseudogene	OTTHUMT00000432347.1	-	0.00	60	0	G			32618959	+1	tier1	-	no_errors	ENST00000562976	ensembl	human	known	74_37	rna	20.69	46	12	SNP	0.001	T
GTF2H5	404672	genome.wustl.edu	37	6	158596078	158596078	+	Intron	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:158596078A>G	ENST00000607778.1	+	2	113				AL590703.1_ENST00000580588.1_RNA	NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5						cellular response to gamma radiation (GO:0071480)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, preincision complex assembly (GO:0006294)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription elongation from RNA polymerase I promoter (GO:0006362)	core TFIIH complex (GO:0000439)|nucleolus (GO:0005730)	rDNA binding (GO:0000182)						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		gtgtgtgtgtATACACACACA	0.408								Nucleotide excision repair (NER)																																									0																																										SO:0001627	intron_variant	0			AK055106	CCDS5256.1	6q25.3	2014-09-17	2004-07-15	2004-07-16		ENSG00000272047		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	21157	protein-coding gene	gene with protein product	"""DNA repair syndrome trichothiodystrophy group A"""	608780	"""chromosome 6 open reading frame 175"", ""trichothiodystrophy"""	C6orf175, TTD		15220921	Standard	NM_207118		Approved	FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA	uc003qrd.3	Q6ZYL4		ENST00000607778.1:c.35+4508A>G	6.37:g.158596078A>G			Q0P5V8	RNA	SNP	-	NULL	ENST00000607778.1	37	NULL	CCDS5256.1	6																																																																																			AL590703.1	-	-	ENSG00000265803		0.408	GTF2H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000265803	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000042865.2	-	0.00	10	0	A	NM_207118		158596078	+1	tier1	-	no_errors	ENST00000580588	ensembl	human	novel	74_37	rna	31.25	11	5	SNP	0.000	G
LLNLF-65H9.1	0	genome.wustl.edu	37	19	28410718	28410718	+	RNA	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:28410718A>G	ENST00000592806.1	+	0	194				AC022153.1_ENST00000586473.1_RNA																							GGTGCTAAAAAGCTGGGCTTT	0.373																																																	0																																												0																															19.37:g.28410718A>G				RNA	SNP	-	NULL	ENST00000592806.1	37	NULL		19																																																																																			LLNLF-65H9.1	-	-	ENSG00000272635		0.373	LLNLF-65H9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000272635	Clone_based_vega_gene	processed_transcript	OTTHUMT00000452876.1	-	0.00	9	0	A			28410718	+1	tier1	-	no_errors	ENST00000592806	ensembl	human	known	74_37	rna	36.00	16	9	SNP	0.997	G
ERBB2	2064	genome.wustl.edu	37	17	37881323	37881323	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:37881323G>A	ENST00000269571.5	+	21	2674	c.2515G>A	c.(2515-2517)Gtg>Atg	p.V839M	ERBB2_ENST00000445658.2_Missense_Mutation_p.V563M|ERBB2_ENST00000584601.1_Missense_Mutation_p.V809M|ERBB2_ENST00000406381.2_Missense_Mutation_p.V809M|ERBB2_ENST00000541774.1_Missense_Mutation_p.V824M|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.V809M|ERBB2_ENST00000584450.1_Missense_Mutation_p.V839M			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	CCTGGAGGATGTGCGGCTCGT	0.597		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													68.0	59.0	62.0					17																	37881323		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.2515G>A	17.37:g.37881323G>A	ENSP00000269571:p.Val839Met		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.V839M	ENST00000269571.5	37	c.2515	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159959	0.38119	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83510	0.5270	N	0.10837	0.055	0.80722	D	1	P;D;P	0.89917	0.93;1.0;0.93	P;D;P	0.81914	0.536;0.995;0.536	D	0.86901	0.2054	9	0.62326	D	0.03	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	563;824;839	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	M	809;824;563;839;809	ENSP00000385185:V809M;ENSP00000446466:V824M;ENSP00000404047:V563M;ENSP00000269571:V839M;ENSP00000443562:V809M	ENSP00000269571:V839M	V	+	1	0	ERBB2	35134849	0.996000	0.38824	0.971000	0.41717	0.953000	0.61014	3.036000	0.49767	2.651000	0.90000	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0.00	34	0	G			37881323	+1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	52.00	12	13	SNP	0.993	A
ERGIC3	51614	genome.wustl.edu	37	20	34135193	34135193	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:34135193A>G	ENST00000348547.2	+	5	475	c.398A>G	c.(397-399)gAc>gGc	p.D133G	ERGIC3_ENST00000357394.4_Missense_Mutation_p.D133G|ERGIC3_ENST00000447986.1_Missense_Mutation_p.D133G|ERGIC3_ENST00000279052.6_Missense_Mutation_p.D133G	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	133					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ACGGTGTTTGACCCTGACTCC	0.592																																																	0													128.0	89.0	102.0					20																	34135193		2203	4300	6503	SO:0001583	missense	0			AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.398A>G	20.37:g.34135193A>G	ENSP00000341358:p.Asp133Gly		Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	pfam_Erv_C	p.D133G	ENST00000348547.2	37	c.398	CCDS13257.1	20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.38|16.38|16.38	3.107711|3.107711|3.107711	0.56291|0.56291|0.56291	.|.|.	.|.|.	ENSG00000125991|ENSG00000125991|ENSG00000125991	ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052|ENST00000416206|ENST00000413587	T;T;T;T|.|.	0.45276|.|.	0.9;0.9;0.91;0.9|.|.	4.4|4.4|4.4	4.4|4.4|4.4	0.53042|0.53042|0.53042	.|.|.	0.047793|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.41073|0.41073|.	0.1143|0.1143|.	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;B;B|.|.	0.18310|.|.	0.027;0.001;0.0;0.0;0.003|.|.	B;B;B;B;B|.|.	0.18871|.|.	0.023;0.002;0.0;0.001;0.006|.|.	T|T|.	0.26643|0.26643|.	-1.0097|-1.0097|.	10|5|.	0.30078|.|.	T|.|.	0.28|.|.	-25.3582|-25.3582|-25.3582	12.6412|12.6412|12.6412	0.56711|0.56711|0.56711	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	133;133;133;133;133|.|.	B4DV36;E9PFA8;Q9Y282;Q9Y282-3;Q9Y282-2|.|.	.;.;ERGI3_HUMAN;.;.|.|.	G|A|W	133|132|134	ENSP00000341358:D133G;ENSP00000349970:D133G;ENSP00000392341:D133G;ENSP00000279052:D133G|.|.	ENSP00000279052:D133G|.|.	D|T|X	+|+|+	2|1|3	0|0|0	ERGIC3|ERGIC3|ERGIC3	33598607|33598607|33598607	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	8.675000|8.675000|8.675000	0.91195|0.91195|0.91195	1.976000|1.976000|1.976000	0.57569|0.57569|0.57569	0.454000|0.454000|0.454000	0.30748|0.30748|0.30748	GAC|ACC|TGA	ERGIC3	-	NULL	ENSG00000125991		0.592	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC3	HGNC	protein_coding	OTTHUMT00000078880.2		0.00	36	0	A	NM_015966		34135193	+1			no_errors	ENST00000447986	ensembl	human	known	74_37	missense	6.56	56	4	SNP	1.000	G
ESPL1	9700	genome.wustl.edu	37	12	53670934	53670934	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:53670934A>G	ENST00000257934.4	+	9	2099	c.2008A>G	c.(2008-2010)Aga>Gga	p.R670G	ESPL1_ENST00000552462.1_Missense_Mutation_p.R670G	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	670					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCCCAGGCCAGAGATCAGCT	0.562																																					Colon(53;1069 1201 2587 5382)												0													71.0	70.0	70.0					12																	53670934		2203	4300	6503	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2008A>G	12.37:g.53670934A>G	ENSP00000257934:p.Arg670Gly			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.R670G	ENST00000257934.4	37	c.2008	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	A	5.893	0.348843	0.11126	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.14391	2.51;2.51	5.19	-10.4	0.00318	.	1.162550	0.06077	N	0.661241	T	0.07458	0.0188	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.28713	-1.0035	10	0.23891	T	0.37	.	10.9639	0.47401	0.6223:0.2745:0.1032:0.0	.	670	Q14674	ESPL1_HUMAN	G	670;345;670	ENSP00000257934:R670G;ENSP00000449831:R670G	ENSP00000257934:R670G	R	+	1	2	ESPL1	51957201	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-1.383000	0.02544	-2.315000	0.00646	0.533000	0.62120	AGA	ESPL1	-	NULL	ENSG00000135476		0.562	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0.00	21	0	A	NM_012291		53670934	+1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.000	G
ETV4	2118	genome.wustl.edu	37	17	41622935	41622935	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:41622935G>T	ENST00000319349.5	-	2	349	c.51C>A	c.(49-51)acC>acA	p.T17T	ETV4_ENST00000591713.1_Silent_p.T17T|ETV4_ENST00000393664.2_Silent_p.T17T|ETV4_ENST00000538265.1_Intron|ETV4_ENST00000545089.1_Silent_p.T17T|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545954.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	17					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CGCTGCTGAAGGTGTAGGGCA	0.741			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)			Dom	yes		17	17q21	2118	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""		"""M, E"""	0													16.0	16.0	16.0					17																	41622935		1984	3817	5801	SO:0001819	synonymous_variant	0			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.51C>A	17.37:g.41622935G>T			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom	p.T17	ENST00000319349.5	37	c.51	CCDS11465.1	17																																																																																			ETV4	-	pfam_ETS_PEA3_N	ENSG00000175832		0.741	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	-	0.00	72	0	G	NM_001986		41622935	-1	tier1	-	no_errors	ENST00000319349	ensembl	human	known	74_37	silent	16.13	78	15	SNP	1.000	T
EVPL	2125	genome.wustl.edu	37	17	74004925	74004925	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:74004925G>T	ENST00000301607.3	-	22	4614	c.4361C>A	c.(4360-4362)cCc>cAc	p.P1454H	EVPL_ENST00000586740.1_Missense_Mutation_p.P1476H|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1454	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGCACCGTGGGAGGCCGCTT	0.637																																																	0													103.0	101.0	101.0					17																	74004925		2203	4300	6503	SO:0001583	missense	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4361C>A	17.37:g.74004925G>T	ENSP00000301607:p.Pro1454His		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.P1454H	ENST00000301607.3	37	c.4361	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743884	0.30865	.	.	ENSG00000167880	ENST00000301607	T	0.62941	-0.01	5.1	-0.069	0.13753	.	0.195501	0.44902	D	0.000419	T	0.70465	0.3227	M	0.74881	2.28	0.19300	N	0.999978	D;D	0.63046	0.992;0.991	P;P	0.57548	0.823;0.671	T	0.65380	-0.6182	10	0.66056	D	0.02	-6.1684	11.4268	0.50015	0.0733:0.3417:0.585:0.0	.	1476;1454	B7ZLH8;Q92817	.;EVPL_HUMAN	H	1454	ENSP00000301607:P1454H	ENSP00000301607:P1454H	P	-	2	0	EVPL	71516520	1.000000	0.71417	0.004000	0.12327	0.526000	0.34562	4.044000	0.57361	0.138000	0.18790	-0.176000	0.13171	CCC	EVPL	-	NULL	ENSG00000167880		0.637	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	-	0.00	62	0	G	NM_001988		74004925	-1	tier1	-	no_errors	ENST00000301607	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.164	T
EXTL3	2137	genome.wustl.edu	37	8	28575272	28575272	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:28575272A>G	ENST00000220562.4	+	3	2598	c.1696A>G	c.(1696-1698)Aac>Gac	p.N566D	EXTL3_ENST00000523149.1_Missense_Mutation_p.N182D|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	566					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AACTGACCCCAACATGGCTGA	0.617																																																	0													49.0	44.0	46.0					8																	28575272		2203	4300	6503	SO:0001583	missense	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1696A>G	8.37:g.28575272A>G	ENSP00000220562:p.Asn566Asp		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.N566D	ENST00000220562.4	37	c.1696	CCDS6070.1	8	.	.	.	.	.	.	.	.	.	.	A	10.01	1.234605	0.22626	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.95342	-3.29;-3.68	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91707	0.7378	L	0.50333	1.59	0.80722	D	1	B	0.12013	0.005	B	0.15484	0.013	D	0.88303	0.2951	10	0.12103	T	0.63	-33.8008	16.4069	0.83677	1.0:0.0:0.0:0.0	.	566	O43909	EXTL3_HUMAN	D	182;566	ENSP00000428691:N182D;ENSP00000220562:N566D	ENSP00000220562:N566D	N	+	1	0	EXTL3	28631191	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	9.339000	0.96797	2.272000	0.75746	0.460000	0.39030	AAC	EXTL3	-	NULL	ENSG00000012232		0.617	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	-	0.00	53	0	A	NM_001440		28575272	+1	tier1	-	no_errors	ENST00000220562	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	G
FAR2	55711	genome.wustl.edu	37	12	29464815	29464815	+	Splice_Site	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:29464815G>A	ENST00000536681.3	+	8	1133		c.e8-1		FAR2_ENST00000547116.1_Splice_Site|FAR2_ENST00000182377.4_Splice_Site|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCATTTTCCAGACCTAAGTCA	0.294																																																	0													62.0	61.0	61.0					12																	29464815		2203	4300	6503	SO:0001630	splice_region_variant	0			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.888-1G>A	12.37:g.29464815G>A			F8VV73|Q9H0D5|Q9NVW8	Splice_Site	SNP	-	e7-1	ENST00000536681.3	37	c.888-1	CCDS8717.1	12	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884434	0.72410	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9326	0.79675	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAR2	29356082	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	7.496000	0.81526	2.411000	0.81874	0.655000	0.94253	.	FAR2	-	-	ENSG00000064763		0.294	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2	-	0.00	48	0	G	NM_018099	Intron	29464815	+1	tier1	-	no_errors	ENST00000182377	ensembl	human	known	74_37	splice_site	33.33	26	13	SNP	1.000	A
FAT2	2196	genome.wustl.edu	37	5	150947209	150947209	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:150947209G>T	ENST00000261800.5	-	1	1296	c.1284C>A	c.(1282-1284)caC>caA	p.H428Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	428	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGCTGATAGTGGGCTCTGT	0.498																																																	0													130.0	123.0	125.0					5																	150947209		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1284C>A	5.37:g.150947209G>T	ENSP00000261800:p.His428Gln		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H428Q	ENST00000261800.5	37	c.1284	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	4.664	0.123506	0.08931	.	.	ENSG00000086570	ENST00000261800	T	0.60171	0.21	5.59	-0.222	0.13122	Cadherin (3);Cadherin-like (1);	0.768996	0.11984	N	0.510480	T	0.25269	0.0614	N	0.03177	-0.4	0.19575	N	0.999969	B	0.10296	0.003	B	0.04013	0.001	T	0.19844	-1.0293	10	0.12766	T	0.61	.	4.1118	0.10062	0.1249:0.1939:0.4859:0.1953	.	428	Q9NYQ8	FAT2_HUMAN	Q	428	ENSP00000261800:H428Q	ENSP00000261800:H428Q	H	-	3	2	FAT2	150927402	0.965000	0.33210	0.632000	0.29296	0.972000	0.66771	0.308000	0.19314	0.021000	0.15133	0.561000	0.74099	CAC	FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0.00	33	0	G	NM_001447		150947209	-1			no_errors	ENST00000261800	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.011	T
FCGBP	8857	genome.wustl.edu	37	19	40420076	40420076	+	Missense_Mutation	SNP	G	G	T	rs145294097		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:40420076G>T	ENST00000221347.6	-	6	2925	c.2918C>A	c.(2917-2919)aCg>aAg	p.T973K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	973	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAAAGTCCGTGCGCACGAC	0.587																																																	0													66.0	61.0	62.0					19																	40420076		2203	4300	6503	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2918C>A	19.37:g.40420076G>T	ENSP00000221347:p.Thr973Lys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.T973K	ENST00000221347.6	37	c.2918	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658099	0.47467	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.84	3.78	0.43462	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000002	T	0.73590	0.3606	M	0.79123	2.44	0.34974	D	0.75344	D	0.76494	0.999	D	0.79784	0.993	T	0.80621	-0.1301	10	0.39692	T	0.17	.	12.5623	0.56288	0.0833:0.0:0.9167:0.0	.	973	Q9Y6R7	FCGBP_HUMAN	K	973	ENSP00000221347:T973K	ENSP00000221347:T973K	T	-	2	0	FCGBP	45111916	1.000000	0.71417	0.100000	0.21137	0.007000	0.05969	6.379000	0.73154	1.244000	0.43870	0.561000	0.74099	ACG	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0.00	20	0	G	NM_003890		40420076	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.985	T
FER1L6	654463	genome.wustl.edu	37	8	125115393	125115393	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:125115393T>C	ENST00000522917.1	+	39	5338	c.5132T>C	c.(5131-5133)cTg>cCg	p.L1711P	FER1L6_ENST00000399018.1_Missense_Mutation_p.L1711P|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1711	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAGGCACCCTGGAAATGAAC	0.443																																																	0													158.0	155.0	156.0					8																	125115393		1897	4131	6028	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5132T>C	8.37:g.125115393T>C	ENSP00000428280:p.Leu1711Pro			Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.L1711P	ENST00000522917.1	37	c.5132	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937535	0.73557	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.95821	-3.82;-3.82	5.58	4.43	0.53597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.245025	0.33534	U	0.004814	D	0.97059	0.9039	M	0.75884	2.315	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.96998	0.9727	10	0.87932	D	0	-14.0752	11.7133	0.51637	0.0:0.0693:0.0:0.9307	.	1711	Q2WGJ9	FR1L6_HUMAN	P	1711	ENSP00000428280:L1711P;ENSP00000381982:L1711P	ENSP00000381982:L1711P	L	+	2	0	FER1L6	125184574	0.997000	0.39634	1.000000	0.80357	0.970000	0.65996	8.040000	0.89188	1.052000	0.40392	0.533000	0.62120	CTG	FER1L6	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000214814		0.443	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1		0.00	61	0	T	NM_001039112		125115393	+1			no_errors	ENST00000399018	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	C
FERMT2	10979	genome.wustl.edu	37	14	53326539	53326539	+	Intron	DEL	T	T	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:53326539delT	ENST00000395631.2	-	14	1944				FERMT2_ENST00000343279.4_Intron|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000341590.3_Intron|FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000399304.3_Intron			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AGTACTAttcttttttttttt	0.453																																																	0																																										SO:0001627	intron_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1728-107A>-	14.37:g.53326539delT			B5TJY2|Q14840|Q86TY7	RNA	DEL	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-	ENSG00000073712		0.453	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2		0.00	19	0	T	NM_006832		53326539	-1	tier1		no_errors	ENST00000557255	ensembl	human	known	74_37	rna	19.23	21	5	DEL	0.120	-
FREM2	341640	genome.wustl.edu	37	13	39452383	39452383	+	Silent	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr13:39452383C>T	ENST00000280481.7	+	22	9000	c.8784C>T	c.(8782-8784)ccC>ccT	p.P2928P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2928					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTATGTTCCCAAGTATAGTC	0.428																																																	0													185.0	157.0	167.0					13																	39452383		2203	4300	6503	SO:0001819	synonymous_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8784C>T	13.37:g.39452383C>T			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P2928	ENST00000280481.7	37	c.8784	CCDS31960.1	13																																																																																			FREM2	-	NULL	ENSG00000150893		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0.00	47	0	C	NM_207361		39452383	+1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.997	T
GDPD4	220032	genome.wustl.edu	37	11	76980066	76980066	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:76980066A>G	ENST00000376217.2	-	8	777	c.527T>C	c.(526-528)cTc>cCc	p.L176P	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Missense_Mutation_p.L176P			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	176					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CATCAAATAGAGACCTAAAAG	0.448																																																	0													87.0	83.0	85.0					11																	76980066		2200	4292	6492	SO:0001583	missense	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.527T>C	11.37:g.76980066A>G	ENSP00000365390:p.Leu176Pro		Q7Z5B0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.L176P	ENST00000376217.2	37	c.527		11	.	.	.	.	.	.	.	.	.	.	A	12.36	1.914292	0.33815	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.21031	2.04;2.03	5.07	5.07	0.68467	.	0.299727	0.31897	N	0.006881	T	0.40719	0.1128	M	0.79123	2.44	0.22511	N	0.999039	D	0.61080	0.989	P	0.56700	0.804	T	0.37686	-0.9695	10	0.87932	D	0	-7.1869	12.4733	0.55799	1.0:0.0:0.0:0.0	.	176	Q6W3E5-2	.	P	176	ENSP00000365390:L176P;ENSP00000320815:L176P	ENSP00000320815:L176P	L	-	2	0	GDPD4	76657714	1.000000	0.71417	0.005000	0.12908	0.055000	0.15305	6.084000	0.71335	2.136000	0.66102	0.533000	0.62120	CTC	GDPD4	-	NULL	ENSG00000178795		0.448	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	-	0.00	35	0	A	NM_182833		76980066	-1	tier1	-	no_errors	ENST00000376217	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.008	G
GHRHR	2692	genome.wustl.edu	37	7	31018816	31018816	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:31018816C>T	ENST00000326139.2	+	13	1275	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Missense_Mutation_p.T346M|GHRHR_ENST00000409316.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	410					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.T410M(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	AAGTGGACCACGCCTTCCCGC	0.592																																																	1	Substitution - Missense(1)	large_intestine(1)											122.0	89.0	100.0					7																	31018816		2203	4300	6503	SO:0001583	missense	0				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1229C>T	7.37:g.31018816C>T	ENSP00000320180:p.Thr410Met		Q99863	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1	p.T410M	ENST00000326139.2	37	c.1229	CCDS5432.1	7	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576833	0.28092	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.52983	0.64;0.82	4.94	-3.92	0.04155	.	.	.	.	.	T	0.29914	0.0748	L	0.31065	0.9	0.09310	N	0.999999	B;B	0.17852	0.024;0.024	B;B	0.14023	0.01;0.005	T	0.29971	-0.9994	9	0.56958	D	0.05	.	5.8845	0.18874	0.0:0.3885:0.321:0.2905	.	346;410	Q9HB45;Q02643	.;GHRHR_HUMAN	M	410;346	ENSP00000320180:T410M;ENSP00000387113:T346M	ENSP00000320180:T410M	T	+	2	0	GHRHR	30985341	0.001000	0.12720	0.004000	0.12327	0.321000	0.28281	-0.427000	0.06999	-0.426000	0.07360	-0.950000	0.02660	ACG	GHRHR	-	prints_GPCR_2_GHRH_rcpt	ENSG00000106128		0.592	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHRHR	HGNC	protein_coding	OTTHUMT00000327967.2		0.00	35	0	C			31018816	+1			no_errors	ENST00000326139	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.001	T
GNB2	2783	genome.wustl.edu	37	7	100275870	100275870	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:100275870C>T	ENST00000303210.4	+	8	1129	c.647C>T	c.(646-648)tCc>tTc	p.S216F	GNB2_ENST00000427895.1_Missense_Mutation_p.S116F|GNB2_ENST00000424361.1_Missense_Mutation_p.S172F|GNB2_ENST00000393926.1_Missense_Mutation_p.S216F|GNB2_ENST00000419828.1_Missense_Mutation_p.S116F|GNB2_ENST00000436220.1_Missense_Mutation_p.S172F|GNB2_ENST00000393924.1_Missense_Mutation_p.S216F	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	216					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GTGCGGGATTCCATGTGCCGA	0.622																																																	0													126.0	116.0	120.0					7																	100275870		2203	4300	6503	SO:0001583	missense	0			M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.647C>T	7.37:g.100275870C>T	ENSP00000305260:p.Ser216Phe		B3KPU1|P11016|P54312	Missense_Mutation	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S216F	ENST00000303210.4	37	c.647	CCDS5703.1	7	.	.	.	.	.	.	.	.	.	.	.	18.14	3.557613	0.65425	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000431068;ENST00000393924	T;T;T;T;T;T;T;T;T	0.81163	5.02;5.02;-1.46;-1.46;-1.46;-1.46;5.02;5.02;5.02	4.9	3.02	0.34903	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.125817	0.56097	D	0.000038	T	0.74512	0.3726	N	0.13043	0.29	0.38572	D	0.949963	P	0.41366	0.747	P	0.49637	0.617	T	0.78155	-0.2314	10	0.87932	D	0	-0.7498	12.6979	0.57014	0.0:0.5069:0.4931:0.0	.	216	P62879	GBB2_HUMAN	F	216;216;172;172;116;116;216;216;216	ENSP00000305260:S216F;ENSP00000399904:S216F;ENSP00000401873:S172F;ENSP00000389391:S172F;ENSP00000390543:S116F;ENSP00000400286:S116F;ENSP00000377503:S216F;ENSP00000390077:S216F;ENSP00000377501:S216F	ENSP00000305260:S216F	S	+	2	0	GNB2	100113806	1.000000	0.71417	0.002000	0.10522	0.888000	0.51559	6.910000	0.75741	0.620000	0.30215	0.462000	0.41574	TCC	GNB2	-	pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000172354		0.622	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB2	HGNC	protein_coding	OTTHUMT00000268391.2	-	0.00	27	0	C	NM_005273		100275870	+1	tier1	-	no_errors	ENST00000303210	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.795	T
GIMAP2	26157	genome.wustl.edu	37	7	150389659	150389659	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:150389659G>T	ENST00000223293.5	+	3	379	c.285G>T	c.(283-285)gtG>gtT	p.V95V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	95	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.V95V(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		acaaagaggtgcagaggtgct	0.527																																																	1	Substitution - coding silent(1)	lung(1)											64.0	61.0	62.0					7																	150389659		2203	4300	6503	SO:0001819	synonymous_variant	0			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.285G>T	7.37:g.150389659G>T			Q96L25	Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.V95	ENST00000223293.5	37	c.285	CCDS5905.1	7																																																																																			GIMAP2	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000106560		0.527	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	HGNC	protein_coding	OTTHUMT00000348948.1		0.00	30	0	G	NM_015660		150389659	+1			no_errors	ENST00000223293	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.007	T
GOLM1	51280	genome.wustl.edu	37	9	88648293	88648293	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:88648293G>T	ENST00000388712.3	-	9	1201	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	GOLM1_ENST00000388711.3_Missense_Mutation_p.L345M|GOLM1_ENST00000257504.6_5'Flank	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	345					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.L345L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCTCCTCTCAGTTTCTGCTGG	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											203.0	169.0	180.0					9																	88648293		2203	4299	6502	SO:0001583	missense	0			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1033C>A	9.37:g.88648293G>T	ENSP00000373364:p.Leu345Met		Q6IAF4|Q9NRB9	Missense_Mutation	SNP	NULL	p.L345M	ENST00000388712.3	37	c.1033	CCDS35054.1	9	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542263	0.65198	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.51071	0.72;0.72	4.79	0.404	0.16355	.	0.880500	0.09710	N	0.765858	T	0.41003	0.1140	L	0.47716	1.5	0.09310	N	1	P	0.44195	0.828	P	0.45138	0.471	T	0.27673	-1.0067	10	0.51188	T	0.08	-28.0831	3.4952	0.07653	0.0965:0.3404:0.4102:0.1529	.	345	Q8NBJ4	GOLM1_HUMAN	M	345	ENSP00000373364:L345M;ENSP00000373363:L345M	ENSP00000373363:L345M	L	-	1	2	GOLM1	87838113	0.000000	0.05858	0.000000	0.03702	0.815000	0.46073	-0.028000	0.12350	-0.099000	0.12263	0.655000	0.94253	CTG	GOLM1	-	NULL	ENSG00000135052		0.428	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2		0.00	34	0	G	NM_177937		88648293	-1			no_errors	ENST00000388711	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	T
GPR158	57512	genome.wustl.edu	37	10	25887338	25887338	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:25887338G>A	ENST00000376351.3	+	11	3142	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	928					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R928H(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GTGGAAGAACGCACTAAATCC	0.438																																																	1	Substitution - Missense(1)	endometrium(1)											127.0	140.0	136.0					10																	25887338		2203	4300	6503	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2783G>A	10.37:g.25887338G>A	ENSP00000365529:p.Arg928His		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R928H	ENST00000376351.3	37	c.2783	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243616	0.22796	.	.	ENSG00000151025	ENST00000376351	T	0.31510	1.49	5.52	3.65	0.41850	.	0.368550	0.25726	N	0.028709	T	0.28167	0.0695	L	0.44542	1.39	0.09310	N	1	D	0.53312	0.959	P	0.46237	0.508	T	0.09552	-1.0669	10	0.48119	T	0.1	.	7.9753	0.30151	0.1412:0.1295:0.7293:0.0	.	928	Q5T848	GP158_HUMAN	H	928	ENSP00000365529:R928H	ENSP00000365529:R928H	R	+	2	0	GPR158	25927344	0.001000	0.12720	0.030000	0.17652	0.136000	0.21042	0.881000	0.28173	1.328000	0.45358	0.650000	0.86243	CGC	GPR158	-	NULL	ENSG00000151025		0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2		0.00	25	0	G	XM_166110		25887338	+1			no_errors	ENST00000376351	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.003	A
GPX8	493869	genome.wustl.edu	37	5	54460059	54460059	+	3'UTR	SNP	G	G	A	rs1047689		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:54460059G>A	ENST00000503787.1	+	0	718				CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000296734.6_3'UTR|GPX8_ENST00000515370.1_3'UTR|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000334206.5_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)						response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	ATGCCATTGCGTTTCTAATAG	0.428																																																	0								G	,,,	0,4406		0,0,2203	40.0	40.0	40.0		,,,	-1.6	0.0	5	dbSNP_86	40	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,intron,intron,intron	CDC20B,GPX8	NM_001008397.2,NM_001145734.2,NM_001170402.1,NM_152623.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	,,,	54460059	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.*13G>A	5.37:g.54460059G>A				RNA	SNP	-	NULL	ENST00000503787.1	37	NULL	CCDS34156.1	5																																																																																			GPX8	-	-	ENSG00000164294		0.428	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX8	HGNC	protein_coding	OTTHUMT00000369717.1	-	0.00	37	0	G	NM_001008397		54460059	+1	tier1	rs1047689	no_errors	ENST00000506123	ensembl	human	known	74_37	rna	26.92	19	7	SNP	0.000	A
GRM1	2911	genome.wustl.edu	37	6	146720526	146720526	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:146720526C>T	ENST00000282753.1	+	7	2586	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	GRM1_ENST00000492807.2_Missense_Mutation_p.A784V|GRM1_ENST00000355289.4_Missense_Mutation_p.A784V|GRM1_ENST00000392299.2_Missense_Mutation_p.A784V|GRM1_ENST00000507907.1_Missense_Mutation_p.A784V|GRM1_ENST00000361719.2_Missense_Mutation_p.A784V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	784					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A784V(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TTCAACGAGGCCAAATATATC	0.498																																																	2	Substitution - Missense(2)	lung(2)											175.0	150.0	158.0					6																	146720526		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2351C>T	6.37:g.146720526C>T	ENSP00000282753:p.Ala784Val		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.A784V	ENST00000282753.1	37	c.2351	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.060787	0.93846	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.68	5.68	0.88126	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98321	1.0528	10	0.87932	D	0	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	784;784;784	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	V	784	ENSP00000354896:A784V;ENSP00000376119:A784V;ENSP00000424095:A784V;ENSP00000282753:A784V;ENSP00000347437:A784V;ENSP00000425599:A784V	ENSP00000282753:A784V	A	+	2	0	GRM1	146762219	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.686000	0.91538	0.585000	0.79938	GCC	GRM1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000152822		0.498	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0.00	91	0	C	NM_000838		146720526	+1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
GRXCR1	389207	genome.wustl.edu	37	4	43022413	43022413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:43022413C>T	ENST00000399770.2	+	3	670	c.670C>T	c.(670-672)Caa>Taa	p.Q224*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	224	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.Q224K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGGAGAACTGCAAGACATCCT	0.303																																																	1	Substitution - Missense(1)	kidney(1)											84.0	81.0	82.0					4																	43022413		1840	4078	5918	SO:0001587	stop_gained	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.670C>T	4.37:g.43022413C>T	ENSP00000382670:p.Gln224*			Nonsense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.Q224*	ENST00000399770.2	37	c.670	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.325030	0.95708	.	.	ENSG00000215203	ENST00000399770	.	.	.	5.79	5.79	0.91817	.	0.081744	0.49916	U	0.000125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-10.0115	19.0179	0.92901	0.0:1.0:0.0:0.0	.	.	.	.	X	224	.	ENSP00000382670:Q224X	Q	+	1	0	GRXCR1	42717170	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.435000	0.80391	2.741000	0.93983	0.484000	0.47621	CAA	GRXCR1	-	superfamily_Thioredoxin-like_fold	ENSG00000215203		0.303	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1		0.00	73	0	C	NM_001080476		43022413	+1			no_errors	ENST00000399770	ensembl	human	known	74_37	nonsense	6.12	45	3	SNP	1.000	T
HAO1	54363	genome.wustl.edu	37	20	7864254	7864254	+	Missense_Mutation	SNP	C	C	T	rs373454999		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:7864254C>T	ENST00000378789.3	-	8	1150	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	367					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.V367F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTGGAAACGGCCAAAGGA	0.373																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						C	ILE/VAL	0,4406		0,0,2203	157.0	142.0	147.0		1099	3.7	1.0	20		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	HAO1	NM_017545.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	367/371	7864254	1,13005	2203	4300	6503	SO:0001583	missense	0			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.1099G>A	20.37:g.7864254C>T	ENSP00000368066:p.Val367Ile		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.V367I	ENST00000378789.3	37	c.1099	CCDS13100.1	20	.	.	.	.	.	.	.	.	.	.	C	9.264	1.044063	0.19748	0.0	1.16E-4	ENSG00000101323	ENST00000378789	T	0.30448	1.53	5.64	3.69	0.42338	.	0.703764	0.14461	N	0.318165	T	0.12263	0.0298	N	0.02539	-0.55	0.23487	N	0.997574	B	0.11235	0.004	B	0.06405	0.002	T	0.29458	-1.0011	10	0.18710	T	0.47	-15.8898	9.8105	0.40820	0.0:0.7719:0.1539:0.0742	.	367	Q9UJM8	HAOX1_HUMAN	I	367	ENSP00000368066:V367I	ENSP00000368066:V367I	V	-	1	0	HAO1	7812254	0.739000	0.28196	0.990000	0.47175	0.996000	0.88848	0.936000	0.28938	0.708000	0.31955	0.591000	0.81541	GTT	HAO1	-	NULL	ENSG00000101323		0.373	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2		0.00	55	0	C			7864254	-1			no_errors	ENST00000378789	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T
GZF1	64412	genome.wustl.edu	37	20	23349538	23349538	+	Silent	SNP	A	A	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:23349538A>T	ENST00000338121.5	+	4	1676	c.1599A>T	c.(1597-1599)tcA>tcT	p.S533S	GZF1_ENST00000544236.1_Silent_p.S57S|GZF1_ENST00000377051.2_Silent_p.S533S|GZF1_ENST00000542987.1_Silent_p.S42S|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	533					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AGCGGAATTCACTGTACCAGC	0.388																																																	0													117.0	114.0	115.0					20																	23349538		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1599A>T	20.37:g.23349538A>T			A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S533	ENST00000338121.5	37	c.1599	CCDS13151.1	20																																																																																			GZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125812		0.388	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	-	0.00	89	0	A	NM_022482		23349538	+1	tier1	-	no_errors	ENST00000338121	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.289	T
HAPLN4	404037	genome.wustl.edu	37	19	19369598	19369598	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:19369598G>A	ENST00000291481.7	-	4	614	c.551C>T	c.(550-552)gCg>gTg	p.A184V	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	184	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.A184E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CTCGGCGCACGCGCGCTGCGC	0.711																																																	1	Substitution - Missense(1)	lung(1)											10.0	10.0	10.0					19																	19369598		2184	4261	6445	SO:0001583	missense	0			AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.551C>T	19.37:g.19369598G>A	ENSP00000291481:p.Ala184Val		A5PKW5|Q96PW2	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.A184V	ENST00000291481.7	37	c.551	CCDS12398.1	19	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369161	0.82463	.	.	ENSG00000187664	ENST00000291481	T	0.13196	2.61	3.97	3.97	0.46021	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.070468	0.56097	D	0.000039	T	0.29355	0.0731	M	0.70842	2.15	0.42561	D	0.993142	D	0.55172	0.97	P	0.55785	0.784	T	0.06826	-1.0805	10	0.45353	T	0.12	-27.0099	14.7601	0.69600	0.0:0.0:1.0:0.0	.	184	Q86UW8	HPLN4_HUMAN	V	184	ENSP00000291481:A184V	ENSP00000291481:A184V	A	-	2	0	HAPLN4	19230598	1.000000	0.71417	0.954000	0.39281	0.535000	0.34838	3.885000	0.56182	2.055000	0.61198	0.313000	0.20887	GCG	HAPLN4	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link	ENSG00000187664		0.711	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	-	0.00	46	0	G	NM_023002		19369598	-1	tier1	-	no_errors	ENST00000291481	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.996	A
HBD	3045	genome.wustl.edu	37	11	5255229	5255229	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:5255229T>A	ENST00000380299.3	-	2	521	c.307A>T	c.(307-309)Aac>Tac	p.N103Y	HBD_ENST00000292901.3_Missense_Mutation_p.N103Y	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	103					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTGAAGTTCTCAGGATCC	0.463																																																	0													98.0	85.0	89.0					11																	5255229		2201	4298	6499	SO:0001583	missense	0			AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.307A>T	11.37:g.5255229T>A	ENSP00000369654:p.Asn103Tyr		Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin	p.N103Y	ENST00000380299.3	37	c.307	CCDS31376.1	11	.	.	.	.	.	.	.	.	.	.	t	19.21	3.783800	0.70222	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.93488	-3.23;-3.23;-3.23	4.43	3.28	0.37604	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	H	0.97940	4.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.96911	0.9667	10	0.87932	D	0	-21.5726	9.5649	0.39391	0.1574:0.0:0.0:0.8426	.	103	P02042	HBD_HUMAN	Y	103	ENSP00000292901:N103Y;ENSP00000369654:N103Y;ENSP00000393810:N103Y	ENSP00000292901:N103Y	N	-	1	0	HBD	5211805	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.550000	0.67268	0.817000	0.34445	0.533000	0.62120	AAC	HBD	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000223609		0.463	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBD	HGNC	protein_coding	OTTHUMT00000142970.1		0.00	67	0	T	NM_000519		5255229	-1			no_errors	ENST00000380299	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A
HBG1	3047	genome.wustl.edu	37	11	5269622	5269622	+	Silent	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:5269622T>G	ENST00000330597.3	-	3	498	c.411A>C	c.(409-411)gcA>gcC	p.A137A	CTD-2643I7.1_ENST00000564523.1_RNA	NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	137					blood coagulation (GO:0007596)	cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGGCCACTGCAGTCACCA	0.488																																					Ovarian(117;2080 2193 33416 49679)												0													79.0	75.0	76.0					11																	5269622		2201	4298	6499	SO:0001819	synonymous_variant	0			M91036	CCDS7754.1	11p15.5	2014-05-19			ENSG00000213934	ENSG00000213934			4831	protein-coding gene	gene with protein product		142200				2649166	Standard	NM_000559		Approved	HBG-T2	uc001mah.1	P69891	OTTHUMG00000066681	ENST00000330597.3:c.411A>C	11.37:g.5269622T>G			P02096|P62027|Q549G1|Q8TDA1|Q96FH7	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.A137	ENST00000330597.3	37	c.411	CCDS7754.1	11	.	.	.	.	.	.	.	.	.	.	T	2.844	-0.239913	0.05944	.	.	ENSG00000213934	ENST00000380256	.	.	.	2.59	-5.18	0.02840	.	1.066700	0.07479	U	0.903470	T	0.48786	0.1519	.	.	.	0.34902	D	0.746598	.	.	.	.	.	.	T	0.60999	-0.7151	6	0.87932	D	0	.	4.9232	0.13880	0.6113:0.0:0.1572:0.2315	.	.	.	.	R	137	.	ENSP00000369606:S137R	S	-	1	0	HBG1	5226198	0.000000	0.05858	0.001000	0.08648	0.234000	0.25298	-2.496000	0.00970	-0.751000	0.04734	0.379000	0.24179	AGT	HBG1	-	superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	ENSG00000213934		0.488	HBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG1	HGNC	protein_coding	OTTHUMT00000142982.1	-	0.00	74	0	T	NM_000559		5269622	-1	tier1	-	no_errors	ENST00000330597	ensembl	human	known	74_37	silent	72.22	15	39	SNP	0.575	G
HDGFRP2	84717	genome.wustl.edu	37	19	4475476	4475476	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:4475476G>T	ENST00000301284.4	+	3	248	c.184G>T	c.(184-186)Gac>Tac	p.D62Y	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.D62Y	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		62	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTTCCCCTACGACAAATGTAA	0.597																																																	0													63.0	67.0	65.0					19																	4475476		2007	4185	6192	SO:0001583	missense	0																														ENST00000301284.4:c.184G>T	19.37:g.4475476G>T	ENSP00000301284:p.Asp62Tyr		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.D62Y	ENST00000301284.4	37	c.184	CCDS42472.1	19	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396451	0.62177	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.72505	-0.66	4.91	4.91	0.64330	PWWP (3);	0.054941	0.64402	D	0.000001	T	0.80607	0.4655	L	0.55481	1.735	0.41819	D	0.990013	D;D	0.67145	0.986;0.996	D;D	0.65773	0.938;0.934	T	0.82916	-0.0220	10	0.72032	D	0.01	.	17.4207	0.87514	0.0:0.0:1.0:0.0	.	62;62	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	Y	62;48	ENSP00000301284:D62Y	ENSP00000301284:D62Y	D	+	1	0	AC011498.1	4426476	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.612000	0.54142	2.417000	0.82017	0.561000	0.74099	GAC	HDGFRP2	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000167674		0.597	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HDGFRP2	Uniprot_gn	protein_coding	OTTHUMT00000458642.1		0.00	64	0	G			4475476	+1			no_errors	ENST00000301284	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.997	T
HEG1	57493	genome.wustl.edu	37	3	124731486	124731487	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:124731486_124731487delTG	ENST00000311127.4	-	6	3003_3004	c.2936_2937delCA	c.(2935-2937)acafs	p.T979fs	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	979					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAGAGGACACTGTTGTTGGTGA	0.52																																																	0																																										SO:0001589	frameshift_variant	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2936_2937delCA	3.37:g.124731486_124731487delTG	ENSP00000311502:p.Thr979fs		Q6NX66|Q8NC40|Q9BSV0	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.T979fs	ENST00000311127.4	37	c.2937_2936	CCDS46898.1	3																																																																																			HEG1	-	NULL	ENSG00000173706		0.520	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2		0.00	49	0	TG	XM_087386		124731487	-1	tier1		no_errors	ENST00000311127	ensembl	human	known	74_37	frame_shift_del	11.29	55	7	DEL	0.000:0.000	-
HERC2P3	283755	genome.wustl.edu	37	15	20588507	20588507	+	RNA	SNP	A	A	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:20588507A>C	ENST00000428453.1	-	0	4243							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAGGGAAAACCTGAGCAAC	0.493																																																	0																																												0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588507A>C				RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-	ENSG00000180229		0.493	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	-	0.00	56	0	A	NG_008269		20588507	-1	tier1	-	no_errors	ENST00000428453	ensembl	human	known	74_37	rna	21.43	44	12	SNP	0.000	C
HERC1	8925	genome.wustl.edu	37	15	63970452	63970452	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:63970452C>T	ENST00000443617.2	-	37	6749	c.6662G>A	c.(6661-6663)cGt>cAt	p.R2221H	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2221					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTGAAGGATACGGATGAGCTG	0.453																																																	0													47.0	44.0	45.0					15																	63970452		1927	4144	6071	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6662G>A	15.37:g.63970452C>T	ENSP00000390158:p.Arg2221His		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R2221H	ENST00000443617.2	37	c.6662	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.190666	0.94923	.	.	ENSG00000103657	ENST00000443617	T	0.36340	1.26	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.59947	-0.7358	10	0.87932	D	0	.	19.8247	0.96612	0.0:1.0:0.0:0.0	.	2221	Q15751	HERC1_HUMAN	H	2221	ENSP00000390158:R2221H	ENSP00000390158:R2221H	R	-	2	0	HERC1	61757505	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.818000	0.86416	2.696000	0.92011	0.655000	0.94253	CGT	HERC1	-	NULL	ENSG00000103657		0.453	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0.00	45	0	C	NM_003922		63970452	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
HSD11B2	3291	genome.wustl.edu	37	16	67470654	67470654	+	Silent	SNP	A	A	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:67470654A>T	ENST00000326152.5	+	5	1098	c.966A>T	c.(964-966)gtA>gtT	p.V322V	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	322					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		CCCCAGTTGTAGATGCCATCA	0.622																																																	0													95.0	86.0	89.0					16																	67470654		2198	4300	6498	SO:0001819	synonymous_variant	0			U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5209	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 3"""	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.966A>T	16.37:g.67470654A>T			A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	p.V322	ENST00000326152.5	37	c.966	CCDS10837.1	16																																																																																			HSD11B2	-	NULL	ENSG00000176387		0.622	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B2	HGNC	protein_coding	OTTHUMT00000268826.3	-	0.00	50	0	A	NM_000196		67470654	+1	tier1	-	no_errors	ENST00000326152	ensembl	human	known	74_37	silent	35.00	26	14	SNP	0.554	T
HSP90AB2P	391634	genome.wustl.edu	37	4	13335143	13335143	+	RNA	SNP	C	C	T	rs372630021		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:13335143C>T	ENST00000602906.1	+	0	106							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						agagcatttgcgcatagggct	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19455	0.0		0.0	False		,,,				2504	0.0																0																																												0			AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13335143C>T				RNA	SNP	-	NULL	ENST00000602906.1	37	NULL		4																																																																																			HSP90AB2P	-	-	ENSG00000205940		0.493	HSP90AB2P-001	KNOWN	basic	processed_transcript	HSP90AB2P	HGNC	pseudogene	OTTHUMT00000359156.2	-	0.00	59	0	C			13335143	+1	tier1	-	no_errors	ENST00000602906	ensembl	human	known	74_37	rna	8.16	45	4	SNP	0.003	T
HSPA12A	259217	genome.wustl.edu	37	10	118451962	118451962	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:118451962G>A	ENST00000369209.3	-	6	667	c.563C>T	c.(562-564)gCg>gTg	p.A188V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	188						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTCCGAACCCGCCTGGTCACT	0.572																																																	0													124.0	134.0	131.0					10																	118451962		2166	4290	6456	SO:0001583	missense	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.563C>T	10.37:g.118451962G>A	ENSP00000358211:p.Ala188Val			Missense_Mutation	SNP	NULL	p.A188V	ENST00000369209.3	37	c.563	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817936	0.32145	.	.	ENSG00000165868	ENST00000369209	T	0.03124	4.04	5.79	4.89	0.63831	.	0.101114	0.64402	D	0.000002	T	0.03477	0.0100	L	0.31065	0.9	0.49798	D	0.999828	B	0.26258	0.145	B	0.25987	0.065	T	0.51403	-0.8710	10	0.16896	T	0.51	.	11.5182	0.50536	0.0683:0.1897:0.742:0.0	.	188	O43301	HS12A_HUMAN	V	188	ENSP00000358211:A188V	ENSP00000358211:A188V	A	-	2	0	HSPA12A	118441952	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	4.331000	0.59273	1.468000	0.48064	0.650000	0.86243	GCG	HSPA12A	-	NULL	ENSG00000165868		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0.00	41	0	G	NM_025015		118451962	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	missense	49.06	27	26	SNP	0.998	A
IFFO1	25900	genome.wustl.edu	37	12	6664942	6664942	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:6664942C>T	ENST00000396840.2	-	1	295	c.254G>A	c.(253-255)cGc>cAc	p.R85H	IFFO1_ENST00000336604.4_Missense_Mutation_p.R85H|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.R85H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	85						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CAGGAAGCAGCGGAACCGGAG	0.697																																																	0													46.0	49.0	48.0					12																	6664942		2203	4300	6503	SO:0001583	missense	0			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.254G>A	12.37:g.6664942C>T	ENSP00000380052:p.Arg85His		Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	NULL	p.R85H	ENST00000396840.2	37	c.254		12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052732	0.75960	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	D;D;D	0.96011	-3.88;-3.88;-3.88	4.22	4.22	0.49857	.	0.158606	0.29767	N	0.011252	D	0.96759	0.8942	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	D	0.97400	0.9995	10	0.87932	D	0	-13.2238	15.5044	0.75725	0.0:1.0:0.0:0.0	.	85;85;85;85	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	H	85	ENSP00000337593:R85H;ENSP00000380052:R85H;ENSP00000349364:R85H	ENSP00000337593:R85H	R	-	2	0	IFFO1	6535203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.889000	0.56212	2.172000	0.68678	0.561000	0.74099	CGC	IFFO1	-	NULL	ENSG00000010295		0.697	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1	-	0.00	45	0	C	NM_080730		6664942	-1	tier1	-	no_errors	ENST00000356896	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	T
IGDCC3	9543	genome.wustl.edu	37	15	65625621	65625621	+	Missense_Mutation	SNP	G	G	T	rs560181953		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:65625621G>T	ENST00000327987.4	-	6	1207	c.956C>A	c.(955-957)aCg>aAg	p.T319K	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	319	Ig-like C2-type 3.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCTGTGCCGTTCTCCTCAC	0.637																																																	0													81.0	63.0	69.0					15																	65625621		2201	4299	6500	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.956C>A	15.37:g.65625621G>T	ENSP00000332773:p.Thr319Lys		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T319K	ENST00000327987.4	37	c.956	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020559	0.75275	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.27557	1.66	5.17	5.17	0.71159	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.57522	-0.7797	10	0.72032	D	0.01	-7.6566	18.69	0.91580	0.0:0.0:1.0:0.0	.	319	Q8IVU1	IGDC3_HUMAN	K	319;182	ENSP00000332773:T319K	ENSP00000332773:T319K	T	-	2	0	IGDCC3	63412674	1.000000	0.71417	0.295000	0.24960	0.307000	0.27823	9.751000	0.98889	2.419000	0.82065	0.655000	0.94253	ACG	IGDCC3	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000174498		0.637	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	-	0.00	70	0	G	NM_004884		65625621	-1	tier1	-	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.998	T
IGDCC4	57722	genome.wustl.edu	37	15	65674195	65674195	+	3'UTR	SNP	C	C	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:65674195C>G	ENST00000352385.2	-	0	6114				IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAGAAATGGCCACTTTCTTAT	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.*2152G>C	15.37:g.65674195C>G			Q9HCE4	RNA	SNP	-	NULL	ENST00000352385.2	37	NULL	CCDS10206.1	15																																																																																			IGDCC4	-	-	ENSG00000103742		0.333	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	-	0.00	41	0	C	NM_020962		65674195	-1	tier1	-	no_errors	ENST00000558048	ensembl	human	known	74_37	rna	52.63	27	30	SNP	0.997	G
IGFN1	91156	genome.wustl.edu	37	1	201177500	201177500	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:201177500G>A	ENST00000335211.4	+	12	3609	c.3479G>A	c.(3478-3480)aGc>aAc	p.S1160N	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Ig-like 5.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGGCAGGAAGCAAAGTGGGT	0.602																																																	0													10.0	9.0	9.0					1																	201177500		692	1590	2282	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3479G>A	1.37:g.201177500G>A	ENSP00000334714:p.Ser1160Asn		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1160N	ENST00000335211.4	37	c.3479	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	8.066	0.769144	0.15983	.	.	ENSG00000163395	ENST00000335211	D	0.88354	-2.37	3.73	1.67	0.24075	.	.	.	.	.	T	0.72104	0.3419	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.59343	-0.7472	6	.	.	.	.	3.1548	0.06500	0.2465:0.0:0.5416:0.2119	.	.	.	.	N	1160	ENSP00000334714:S1160N	.	S	+	2	0	IGFN1	199444123	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.551000	0.06027	0.263000	0.21812	0.561000	0.74099	AGC	IGFN1	-	NULL	ENSG00000163395		0.602	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding			0.00	33	0	G	NM_178275		201177500	+1			no_errors	ENST00000335211	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.000	A
IL26	55801	genome.wustl.edu	37	12	68619437	68619437	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:68619437G>T	ENST00000229134.4	-	1	164	c.100C>A	c.(100-102)Cca>Aca	p.P34T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	34					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GTTCCCCTTGGGTAACAACTT	0.438																																																	0													283.0	248.0	260.0					12																	68619437		2203	4300	6503	SO:0001583	missense	0			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.100C>A	12.37:g.68619437G>T	ENSP00000229134:p.Pro34Thr			Missense_Mutation	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core	p.P34T	ENST00000229134.4	37	c.100	CCDS8981.1	12	.	.	.	.	.	.	.	.	.	.	G	6.581	0.475580	0.12521	.	.	ENSG00000111536	ENST00000229134	T	0.62105	0.05	4.94	0.163	0.14986	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.025540	0.07782	N	0.953552	T	0.48624	0.1510	L	0.44542	1.39	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.30650	-0.9971	9	.	.	.	.	3.9911	0.09537	0.28:0.0:0.5559:0.1642	.	34	Q9NPH9	IL26_HUMAN	T	34	ENSP00000229134:P34T	.	P	-	1	0	IL26	66905704	0.839000	0.29477	0.001000	0.08648	0.743000	0.42351	1.617000	0.36943	-0.043000	0.13513	0.462000	0.41574	CCA	IL26	-	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core	ENSG00000111536		0.438	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL26	HGNC	protein_coding	OTTHUMT00000402302.1		0.00	42	0	G	NM_018402		68619437	-1			no_errors	ENST00000229134	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.001	T
INHBA	3624	genome.wustl.edu	37	7	41729122	41729122	+	3'UTR	DEL	T	T	-	rs529491006		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:41729122delT	ENST00000242208.4	-	0	1653				INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A						activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						tttttttttgttttttttttt	0.308										TSP Lung(11;0.080)																																							0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.*126A>-	7.37:g.41729122delT			Q14599	RNA	DEL	-	NULL	ENST00000242208.4	37	NULL	CCDS5464.1	7																																																																																			INHBA	-	-	ENSG00000122641		0.308	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1		0.00	65	0	T			41729122	-1	tier1		no_errors	ENST00000464515	ensembl	human	known	74_37	rna	36.73	31	18	DEL	0.000	-
INTS8	55656	genome.wustl.edu	37	8	95879377	95879377	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:95879377G>A	ENST00000523731.1	+	19	2438	c.2305G>A	c.(2305-2307)Gtt>Att	p.V769I	INTS8_ENST00000447247.1_Missense_Mutation_p.V769I|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	769					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGAACCACTCGTTTTGACTAT	0.284																																																	0													83.0	82.0	82.0					8																	95879377		2202	4299	6501	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2305G>A	8.37:g.95879377G>A	ENSP00000430338:p.Val769Ile		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.V769I	ENST00000523731.1	37	c.2305	CCDS34925.1	8	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548754	0.86127	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	T;T	0.32272	1.46;1.46	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	M	0.66939	2.045	0.80722	D	1	D	0.59767	0.986	P	0.50617	0.646	T	0.42582	-0.9443	10	0.51188	T	0.08	-10.0194	19.4831	0.95018	0.0:0.0:1.0:0.0	.	769	Q75QN2	INT8_HUMAN	I	769	ENSP00000430338:V769I;ENSP00000398203:V769I	ENSP00000398203:V769I	V	+	1	0	INTS8	95948553	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.977000	0.76141	2.599000	0.87857	0.557000	0.71058	GTT	INTS8	-	NULL	ENSG00000164941		0.284	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	-	0.00	45	0	G	NM_017864		95879377	+1	tier1	-	no_errors	ENST00000523731	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A
IQCE	23288	genome.wustl.edu	37	7	2622228	2622228	+	Silent	SNP	G	G	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:2622228G>C	ENST00000402050.2	+	9	829	c.645G>C	c.(643-645)ctG>ctC	p.L215L	IQCE_ENST00000438376.2_Silent_p.L199L|IQCE_ENST00000404984.1_Silent_p.L164L|IQCE_ENST00000497572.1_3'UTR|IQCE_ENST00000325979.7_Silent_p.L150L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	215						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TTAACGGGCTGAAGCAGAGGA	0.657																																																	0													46.0	54.0	51.0					7																	2622228		2125	4220	6345	SO:0001819	synonymous_variant	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.645G>C	7.37:g.2622228G>C			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.L215	ENST00000402050.2	37	c.645	CCDS43542.1	7																																																																																			IQCE	-	NULL	ENSG00000106012		0.657	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	-	0.00	8	0	G	NM_152558		2622228	+1	tier1	-	no_errors	ENST00000402050	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.916	C
ITGB4	3691	genome.wustl.edu	37	17	73732144	73732144	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:73732144G>T	ENST00000200181.3	+	14	1857	c.1670G>T	c.(1669-1671)tGc>tTc	p.C557F	ITGB4_ENST00000450894.3_Missense_Mutation_p.C557F|ITGB4_ENST00000449880.2_Missense_Mutation_p.C557F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.C557F|ITGB4_ENST00000579662.1_Missense_Mutation_p.C557F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	557	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGAGGACGCTGCTCCATGGGC	0.617																																																	0													202.0	166.0	178.0					17																	73732144		2203	4300	6503	SO:0001583	missense	0				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1670G>T	17.37:g.73732144G>T	ENSP00000200181:p.Cys557Phe		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.C557F	ENST00000200181.3	37	c.1670	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407156	0.42715	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92911	-3.13;-3.13;-3.13	4.95	4.95	0.65309	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	H	0.96662	3.86	0.80722	D	1	D;D;D;P;P	0.89917	1.0;1.0;0.994;0.953;0.953	D;D;D;P;P	0.78314	0.988;0.991;0.937;0.904;0.904	D	0.98951	1.0794	10	0.66056	D	0.02	.	18.2412	0.89968	0.0:0.0:1.0:0.0	.	517;557;557;557;557	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	F	473;557;557;557	ENSP00000200181:C557F;ENSP00000344079:C557F;ENSP00000400217:C557F	ENSP00000200181:C557F	C	+	2	0	ITGB4	71243739	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.201000	0.95017	2.285000	0.76669	0.558000	0.71614	TGC	ITGB4	-	pirsf_Integrin_bsu-4,pfam_EGF_extracell	ENSG00000132470		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1		0.00	23	0	G			73732144	+1			no_errors	ENST00000200181	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
KIN	22944	genome.wustl.edu	37	10	7797981	7797981	+	3'UTR	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:7797981G>T	ENST00000379562.4	-	0	1291				KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Intron	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTCTCATAATGCCTTGGCGAA	0.299																																																	0													61.0	51.0	54.0					10																	7797981		692	1589	2281	SO:0001624	3_prime_UTR_variant	0			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.*62C>A	10.37:g.7797981G>T				RNA	SNP	-	NULL	ENST00000379562.4	37	NULL	CCDS7080.1	10																																																																																			KIN	-	-	ENSG00000151657		0.299	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIN	HGNC	protein_coding	OTTHUMT00000046683.2	-	0.00	96	0	G	NM_012311		7797981	-1	tier1	-	no_errors	ENST00000463666	ensembl	human	known	74_37	rna	5.33	71	4	SNP	0.014	T
KLHL15	80311	genome.wustl.edu	37	X	24024586	24024586	+	Silent	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:24024586T>C	ENST00000328046.8	-	3	480	c.225A>G	c.(223-225)aaA>aaG	p.K75K		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	75	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTGTTAGACCTTTTAAATGAA	0.428																																																	0													105.0	96.0	99.0					X																	24024586		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.225A>G	X.37:g.24024586T>C			Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K75	ENST00000328046.8	37	c.225	CCDS35217.1	X																																																																																			KLHL15	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000174010		0.428	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1		0.00	28	0	T	XM_040383		24024586	-1			no_errors	ENST00000328046	ensembl	human	known	74_37	silent	8.82	31	3	SNP	1.000	C
KRTAP10-11	386678	genome.wustl.edu	37	21	46066736	46066736	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:46066736G>T	ENST00000334670.8	+	1	406	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	121	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						tgtctgctgtggggctgcttc	0.652																																																	0													119.0	126.0	124.0					21																	46066736		2203	4300	6503	SO:0001583	missense	0			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.361G>T	21.37:g.46066736G>T	ENSP00000334197:p.Gly121Trp		A2RRF9	Missense_Mutation	SNP	NULL	p.G121W	ENST00000334670.8	37	c.361	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	g	2.052	-0.417535	0.04766	.	.	ENSG00000243489	ENST00000334670	T	0.00655	5.95	3.05	-0.02	0.13958	.	.	.	.	.	T	0.01765	0.0056	L	0.46157	1.445	0.09310	N	1	P	0.49862	0.929	P	0.57283	0.817	T	0.49753	-0.8906	9	0.66056	D	0.02	.	6.6465	0.22939	0.3655:0.0:0.6345:0.0	.	121	P60412	KR10B_HUMAN	W	121	ENSP00000334197:G121W	ENSP00000334197:G121W	G	+	1	0	KRTAP10-11	44891164	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.348000	0.02629	0.011000	0.14865	0.456000	0.33151	GGG	KRTAP10-11	-	NULL	ENSG00000243489		0.652	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	HGNC	protein_coding	OTTHUMT00000128029.1	-	0.00	118	0	G	NM_198692		46066736	+1	tier1	-	no_errors	ENST00000334670	ensembl	human	known	74_37	missense	6.25	120	8	SNP	0.004	T
LAMA1	284217	genome.wustl.edu	37	18	7012081	7012081	+	Silent	SNP	G	G	A	rs144126568		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:7012081G>A	ENST00000389658.3	-	24	3513	c.3420C>T	c.(3418-3420)cgC>cgT	p.R1140R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1140	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGTTGTCTGCGCGGAGAGCGA	0.562																																																	0								A		2,4404	4.2+/-10.8	0,2,2201	42.0	39.0	40.0		3420	-11.8	0.0	18	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	LAMA1	NM_005559.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		1140/3076	7012081	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3420C>T	18.37:g.7012081G>A				Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R1140	ENST00000389658.3	37	c.3420	CCDS32787.1	18																																																																																			LAMA1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000101680		0.562	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	25	0	G	NM_005559		7012081	-1	tier1	rs144126568	no_errors	ENST00000389658	ensembl	human	known	74_37	silent	46.81	25	22	SNP	0.000	A
LAMA3	3909	genome.wustl.edu	37	18	21489259	21489259	+	Splice_Site	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:21489259G>T	ENST00000313654.9	+	55	7399	c.7158G>T	c.(7156-7158)aaG>aaT	p.K2386N	LAMA3_ENST00000269217.6_Splice_Site_p.K777N|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Splice_Site_p.K2330N|LAMA3_ENST00000587184.1_Splice_Site_p.K721N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2386	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTGCCAGTAAGGTGAGTGTGT	0.418																																																	0													111.0	99.0	103.0					18																	21489259		2203	4300	6503	SO:0001630	splice_region_variant	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7158+1G>T	18.37:g.21489259G>T			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.K2386N	ENST00000313654.9	37	c.7158	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585504	0.86748	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.52295	0.67;0.67;0.67	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin II (1);	.	.	.	.	T	0.70474	0.3228	M	0.80183	2.485	0.58432	D	0.999998	D;D;D;D	0.63880	0.975;0.975;0.979;0.993	P;P;P;D	0.62955	0.813;0.813;0.87;0.909	T	0.73956	-0.3819	9	0.72032	D	0.01	.	19.6052	0.95577	0.0:0.0:1.0:0.0	.	721;777;2330;2386	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	N	2386;2330;777	ENSP00000324532:K2386N;ENSP00000382432:K2330N;ENSP00000269217:K777N	ENSP00000269217:K777N	K	+	3	2	LAMA3	19743257	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.868000	0.87116	2.625000	0.88918	0.655000	0.94253	AAG	LAMA3	-	pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf	ENSG00000053747		0.418	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	-	0.00	71	0	G	NM_000227, NM_198129	Missense_Mutation	21489259	+1	tier1	-	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
LBX1	10660	genome.wustl.edu	37	10	102987359	102987359	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:102987359A>G	ENST00000370193.2	-	2	1492	c.514T>C	c.(514-516)Tgg>Cgg	p.W172R	LBX1-AS1_ENST00000546988.1_RNA|LBX1-AS1_ENST00000547077.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	172					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TTCTGGAACCAGGTGATGACT	0.592																																																	0													80.0	82.0	82.0					10																	102987359		2203	4300	6503	SO:0001583	missense	0			X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.514T>C	10.37:g.102987359A>G	ENSP00000359212:p.Trp172Arg		B9EGA2|Q05BB2	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.W172R	ENST00000370193.2	37	c.514	CCDS31270.1	10	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334071	0.81801	.	.	ENSG00000138136	ENST00000370193	D	0.99822	-6.94	5.61	5.61	0.85477	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99917	0.9961	H	0.99732	4.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95902	0.8916	10	0.87932	D	0	.	15.4696	0.75432	1.0:0.0:0.0:0.0	.	172	P52954	LBX1_HUMAN	R	172	ENSP00000359212:W172R	ENSP00000359212:W172R	W	-	1	0	LBX1	102977349	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.271000	0.95698	2.138000	0.66242	0.459000	0.35465	TGG	LBX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	ENSG00000138136		0.592	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBX1	HGNC	protein_coding	OTTHUMT00000049928.3	-	0.00	53	0	A	NM_006562		102987359	-1	tier1	-	no_errors	ENST00000370193	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	G
LINC00052	145978	genome.wustl.edu	37	15	88121326	88121326	+	lincRNA	SNP	A	A	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:88121326A>C	ENST00000560153.1	+	0	195				RP11-648K4.2_ENST00000560439.1_lincRNA	NR_026869.1		Q96N35	TMM83_HUMAN	long intergenic non-protein coding RNA 52							integral component of membrane (GO:0016021)											TTCATCCTGAAGTTTCTCCAT	0.368																																																	0																																												0			AK056023		15q25.3	2012-10-12	2011-08-10	2011-08-10		ENSG00000259527		"""Long non-coding RNAs"""	26455	non-coding RNA	RNA, long non-coding			"""transmembrane protein 83"", ""non-protein coding RNA 52"""	TMEM83, NCRNA00052			Standard	NR_026869		Approved	FLJ31461	uc002bmc.1	Q96N35			15.37:g.88121326A>C				RNA	SNP	-	NULL	ENST00000560153.1	37	NULL		15																																																																																			LINC00052	-	-	ENSG00000259527		0.368	LINC00052-002	KNOWN	basic	lincRNA	LINC00052	HGNC	lincRNA	OTTHUMT00000416151.1	-	0.00	40	0	A	XR_017978		88121326	+1	tier1	-	no_errors	ENST00000560153	ensembl	human	known	74_37	rna	28.57	15	6	SNP	0.001	C
LINC00937	389634	genome.wustl.edu	37	12	8543219	8543219	+	lincRNA	SNP	A	A	G	rs376843169		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:8543219A>G	ENST00000544461.1	-	0	727									long intergenic non-protein coding RNA 937																		GCCGGCGCGGACTCCTCCGCG	0.786																																																	0																																												0			BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8543219A>G				RNA	SNP	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			LINC00937	-	-	ENSG00000226091		0.786	LINC00937-001	KNOWN	basic	lincRNA	LINC00937	HGNC	lincRNA	OTTHUMT00000400511.1		0.00	10	0	A			8543219	-1			no_errors	ENST00000420040	ensembl	human	known	74_37	rna	24.14	22	7	SNP	0.698	G
LINC00937	389634	genome.wustl.edu	37	12	8543224	8543224	+	lincRNA	SNP	T	T	C	rs553608845		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:8543224T>C	ENST00000544461.1	-	0	722									long intergenic non-protein coding RNA 937																		CGCGGACTCCTCCGCGGGCCG	0.791																																																	0																																												0			BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8543224T>C				RNA	SNP	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			LINC00937	-	-	ENSG00000226091		0.791	LINC00937-001	KNOWN	basic	lincRNA	LINC00937	HGNC	lincRNA	OTTHUMT00000400511.1		0.00	10	0	T			8543224	-1			no_errors	ENST00000420040	ensembl	human	known	74_37	rna	20.69	23	6	SNP	0.890	C
LPHN2	23266	genome.wustl.edu	37	1	82447530	82447530	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:82447530T>G	ENST00000370728.1	+	21	3785	c.3140T>G	c.(3139-3141)cTt>cGt	p.L1047R	LPHN2_ENST00000319517.6_Missense_Mutation_p.L1034R|LPHN2_ENST00000394879.1_Missense_Mutation_p.L1049R|LPHN2_ENST00000370725.1_Missense_Mutation_p.L1062R|LPHN2_ENST00000370717.2_Missense_Mutation_p.L1062R|LPHN2_ENST00000359929.3_Missense_Mutation_p.L1034R|LPHN2_ENST00000370713.1_Missense_Mutation_p.L1034R|LPHN2_ENST00000370715.1_Missense_Mutation_p.L1034R|LPHN2_ENST00000271029.4_Missense_Mutation_p.L1062R|LPHN2_ENST00000335786.5_Missense_Mutation_p.L1047R|LPHN2_ENST00000370730.1_Missense_Mutation_p.L1047R|LPHN2_ENST00000370721.1_Missense_Mutation_p.L972R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.L1049R|LPHN2_ENST00000370727.1_Missense_Mutation_p.L1062R			O95490	LPHN2_HUMAN	latrophilin 2	1047					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGTGTCTTCTTGGCCTCACC	0.403																																																	0													243.0	245.0	245.0					1																	82447530		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3140T>G	1.37:g.82447530T>G	ENSP00000359763:p.Leu1047Arg		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.L1062R	ENST00000370728.1	37	c.3185		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.19|17.19	3.327103|3.327103	0.60743|0.60743	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.63580|0.61742	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05|0.08	5.67|5.67	5.67|5.67	0.87782|0.87782	GPCR, family 2-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.82907|0.82907	0.5139|0.5139	H|H	0.98048|0.98048	4.135|4.135	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.999|.	D;D;D;D|.	0.78314|.	0.991;0.983;0.97;0.984|.	D|D	0.89622|0.89622	0.3849|0.3849	10|8	0.87932|0.87932	D|D	0|0	.|.	15.9227|15.9227	0.79589|0.79589	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1047;1034;1034;1034|.	O95490;O95490-3;O95490-4;O95490-2|.	LPHN2_HUMAN;.;.;.|.	R|V	972;1047;1047;1062;1062;1049;1034;1034;1034;1034;1062;1049;1062;1047|939	ENSP00000359756:L972R;ENSP00000359763:L1047R;ENSP00000359765:L1047R;ENSP00000359762:L1062R;ENSP00000359760:L1062R;ENSP00000359758:L1049R;ENSP00000353006:L1034R;ENSP00000359750:L1034R;ENSP00000359748:L1034R;ENSP00000322270:L1034R;ENSP00000359752:L1062R;ENSP00000378344:L1049R;ENSP00000271029:L1062R;ENSP00000337306:L1047R|ENSP00000397740:L939V	ENSP00000271029:L1062R|ENSP00000397740:L939V	L|L	+|+	2|1	0|2	LPHN2|LPHN2	82220118|82220118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.040000|8.040000	0.89188|0.89188	2.157000|2.157000	0.67596|0.67596	0.528000|0.528000	0.53228|0.53228	CTT|TTG	LPHN2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000117114		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0.00	82	0	T	NM_012302		82447530	+1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	49.37	40	39	SNP	1.000	G
LRP1B	53353	genome.wustl.edu	37	2	141291618	141291618	+	Silent	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:141291618T>C	ENST00000389484.3	-	47	8705	c.7734A>G	c.(7732-7734)ggA>ggG	p.G2578G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2578	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		CAGAGTTGTCTCCGCAGTCAT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													119.0	113.0	115.0					2																	141291618		2203	4300	6503	SO:0001819	synonymous_variant	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.7734A>G	2.37:g.141291618T>C			Q8WY29|Q8WY30|Q8WY31	Silent	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.G2578	ENST00000389484.3	37	c.7734	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	52	0	T	NM_018557		141291618	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	15.00	51	9	SNP	0.922	C
LRP1B	53353	genome.wustl.edu	37	2	141665526	141665526	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:141665526G>T	ENST00000389484.3	-	22	4411	c.3440C>A	c.(3439-3441)aCc>aAc	p.T1147N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1147	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		GCAGACTGAGGTGTCATTAGC	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													186.0	165.0	172.0					2																	141665526		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.3440C>A	2.37:g.141665526G>T	ENSP00000374135:p.Thr1147Asn		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.T1147N	ENST00000389484.3	37	c.3440	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405728	0.42715	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99070	-5.39;-3.74	5.58	4.65	0.58169	.	0.148955	0.43919	D	0.000505	D	0.96827	0.8964	L	0.42487	1.325	0.49915	D	0.999835	B;P	0.43094	0.056;0.799	B;B	0.37508	0.14;0.252	D	0.96623	0.9461	10	0.16420	T	0.52	.	15.9227	0.79589	0.0:0.1352:0.8648:0.0	.	330;1147	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	N	1147;1085;292	ENSP00000374135:T1147N;ENSP00000413239:T292N	ENSP00000374135:T1147N	T	-	2	0	LRP1B	141381996	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	5.424000	0.66464	2.641000	0.89580	0.585000	0.79938	ACC	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	42	0	G	NM_018557		141665526	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T
LRRC16A	55604	genome.wustl.edu	37	6	25452454	25452454	+	Intron	DEL	T	T	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:25452454delT	ENST00000329474.6	+	8	982				LRRC16A_ENST00000377969.3_Intron	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TCTCAGGCAATTTTTTTTTTT	0.438																																																	0									,	112,116,1884		16,1,79,9,97,854	94.0	92.0	93.0		,	0.7	0.0	6		97	197,259,3912		20,0,157,14,231,1762	no	intron,intron	LRRC16A	NM_017640.5,NM_001173977.1	,	36,1,236,23,328,2616	A1A1,A1A2,A1R,A2A2,A2R,RR		10.4396,10.7955,10.5556	,	,	25452454	309,375,5796	876	1991	2867	SO:0001627	intron_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.614+1515T>-	6.37:g.25452454delT			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	RNA	DEL	-	NULL	ENST00000329474.6	37	NULL	CCDS54973.1	6																																																																																			LRRC16A	-	-	ENSG00000079691		0.438	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2		0.00	43	0	T	NM_017640		25452454	+1	tier1		no_errors	ENST00000461945	ensembl	human	known	74_37	rna	25.71	26	9	DEL	0.000	-
LYPD1	116372	genome.wustl.edu	37	2	133403799	133403799	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:133403799G>A	ENST00000397463.2	-	3	517	c.245C>T	c.(244-246)gCc>gTc	p.A82V	GPR39_ENST00000470071.1_3'UTR|GPR39_ENST00000329321.3_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.A30V	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	82	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						CTGGTACCCGGCAGAGGCGAT	0.552																																																	0													51.0	58.0	55.0					2																	133403799		2110	4232	6342	SO:0001583	missense	0			AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.245C>T	2.37:g.133403799G>A	ENSP00000380605:p.Ala82Val		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	NULL	p.A82V	ENST00000397463.2	37	c.245	CCDS42759.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.297113	0.95574	.	.	ENSG00000150551	ENST00000409034;ENST00000397463;ENST00000345008	D;D	0.85629	-2.01;-2.01	5.55	5.55	0.83447	Ly-6 antigen / uPA receptor -like (1);	0.137218	0.50627	N	0.000108	D	0.85044	0.5607	N	0.08118	0	0.58432	D	0.999994	D;D	0.69078	0.995;0.997	P;D	0.66196	0.864;0.942	D	0.88560	0.3122	10	0.72032	D	0.01	-12.4729	19.571	0.95419	0.0:0.0:1.0:0.0	.	82;98	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	V	105;82;30	ENSP00000380605:A82V;ENSP00000340563:A30V	ENSP00000340563:A30V	A	-	2	0	LYPD1	133120269	1.000000	0.71417	0.815000	0.32552	0.862000	0.49288	9.593000	0.98250	2.636000	0.89361	0.650000	0.86243	GCC	LYPD1	-	NULL	ENSG00000150551		0.552	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD1	HGNC	protein_coding	OTTHUMT00000331821.1	-	0.00	34	0	G	NM_144586		133403799	-1	tier1	-	no_errors	ENST00000397463	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.999	A
MACF1	23499	genome.wustl.edu	37	1	39951742	39951743	+	3'UTR	INS	-	-	A	rs3839022|rs551344914	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:39951742_39951743insA	ENST00000372915.3	+	0	22530_22531				MACF1_ENST00000564288.1_3'UTR|MACF1_ENST00000361689.2_3'UTR|MACF1_ENST00000545844.1_3'UTR|MACF1_ENST00000567887.1_3'UTR|MACF1_ENST00000317713.7_3'UTR|MACF1_ENST00000539005.1_3'UTR|MACF1_ENST00000289893.4_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAATGTGTATTAAAAAAAAAAA	0.342																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.*277->A	1.37:g.39951753_39951753dupA			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	INS	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-	ENSG00000127603		0.342	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0.00	60	0	-	NM_033044		39951743	+1	tier1		no_errors	ENST00000496360	ensembl	human	known	74_37	rna	8.70	84	8	INS	0.986:0.084	A
MAGEC3	139081	genome.wustl.edu	37	X	140984507	140984507	+	Intron	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:140984507G>T	ENST00000298296.1	+	7	1123				MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E23D|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E23D|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E23D	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGACAGAGGACTTGGTAG	0.517																																																	0													150.0	122.0	132.0					X																	140984507		2203	4300	6503	SO:0001627	intron_variant	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1124-161G>T	X.37:g.140984507G>T			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E23D	ENST00000298296.1	37	c.69	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	g	9.079	0.998830	0.19121	.	.	ENSG00000165509	ENST00000536088;ENST00000544766;ENST00000409007	T;T;T	0.03607	3.87;3.87;3.87	1.18	-0.587	0.11690	.	.	.	.	.	T	0.02494	0.0076	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45483	-0.9258	8	0.34782	T	0.22	.	4.1055	0.10035	0.0:0.0:0.4603:0.5397	.	23	Q3SYA7	.	D	23	ENSP00000441107:E23D;ENSP00000440444:E23D;ENSP00000386566:E23D	ENSP00000386566:E23D	E	+	3	2	MAGEC3	140812173	0.003000	0.15002	0.001000	0.08648	0.156000	0.22039	-0.490000	0.06482	-0.210000	0.10140	0.179000	0.17066	GAG	MAGEC3	-	NULL	ENSG00000165509		0.517	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0.00	19	0	G	NM_138702		140984507	+1	tier1	-	no_errors	ENST00000536088	ensembl	human	known	74_37	missense	92.31	3	36	SNP	0.001	T
MAP2K1	5604	genome.wustl.edu	37	15	66727483	66727483	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:66727483G>T	ENST00000307102.5	+	2	730	c.199G>T	c.(199-201)Gac>Tac	p.D67Y		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	67					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.D67N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GAAGGATGACGACTTTGAGAA	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM076269	MAP2K1	M							188.0	174.0	179.0					15																	66727483		2201	4299	6500	SO:0001583	missense	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.199G>T	15.37:g.66727483G>T	ENSP00000302486:p.Asp67Tyr			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D67Y	ENST00000307102.5	37	c.199	CCDS10216.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.789340|4.789340	0.90367|0.90367	.|.	.|.	ENSG00000169032|ENSG00000169032	ENST00000307102|ENST00000425818	D|.	0.94000|.	-3.33|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Protein kinase-like domain (1);|.	0.091006|.	0.85682|.	D|.	0.000000|.	T|T	0.76133|0.76133	0.3945|0.3945	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.995|.	D;D|.	0.74674|.	0.984;0.927|.	T|T	0.76211|0.76211	-0.3042|-0.3042	10|5	0.87932|.	D|.	0|.	-32.7633|-32.7633	17.8302|17.8302	0.88680|0.88680	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	45;67|.	B4DFY5;Q02750|.	.;MP2K1_HUMAN|.	Y|L	67|6	ENSP00000302486:D67Y|.	ENSP00000302486:D67Y|.	D|R	+|+	1|2	0|0	MAP2K1|MAP2K1	64514537|64514537	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.983000|0.983000	0.72400|0.72400	9.723000|9.723000	0.98772|0.98772	2.443000|2.443000	0.82685|0.82685	0.591000|0.591000	0.81541|0.81541	GAC|CGA	MAP2K1	-	superfamily_Kinase-like_dom	ENSG00000169032		0.547	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	-	0.00	47	0	G			66727483	+1	tier1	-	no_errors	ENST00000307102	ensembl	human	known	74_37	missense	25.00	38	13	SNP	1.000	T
DNASE2	1777	genome.wustl.edu	37	19	12985623	12985623	+	IGR	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:12985623C>T	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Missense_Mutation_p.A1551V	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCTGCTGAAGCTGTGCCCCCA	0.662																																																	0													15.0	13.0	14.0					19																	12985623		2196	4286	6482	SO:0001628	intergenic_variant	0			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12985623C>T			B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.A1551V	ENST00000222219.3	37	c.4652	CCDS12284.1	19	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040028	0.35989	.	.	ENSG00000105613	ENST00000251472	T	0.69685	-0.42	5.16	1.84	0.25277	.	0.463964	0.17947	N	0.156632	T	0.40297	0.1111	N	0.08118	0	0.26905	N	0.967039	B	0.02656	0.0	B	0.01281	0.0	T	0.23119	-1.0197	10	0.45353	T	0.12	-2.3568	4.8691	0.13624	0.0:0.6323:0.1765:0.1912	.	1551	Q9Y2H9	MAST1_HUMAN	V	1551	ENSP00000251472:A1551V	ENSP00000251472:A1551V	A	+	2	0	MAST1	12846623	0.599000	0.26891	0.909000	0.35828	0.639000	0.38242	1.026000	0.30103	0.560000	0.29169	0.555000	0.69702	GCT	MAST1	-	NULL	ENSG00000105613		0.662	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451790.1	-	0.00	58	0	C			12985623	+1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.847	T
MCM8	84515	genome.wustl.edu	37	20	5933133	5933133	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:5933133G>A	ENST00000378896.3	+	3	589	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	MCM8_ENST00000378886.2_Missense_Mutation_p.R71Q|MCM8_ENST00000378883.1_Missense_Mutation_p.R71Q|TRMT6_ENST00000453074.2_5'Flank|TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000265187.4_Missense_Mutation_p.R71Q|TRMT6_ENST00000203001.2_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	71					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ACATTGGATCGATTCATACCA	0.343																																																	0													103.0	118.0	113.0					20																	5933133		2203	4299	6502	SO:0001583	missense	0			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.212G>A	20.37:g.5933133G>A	ENSP00000368174:p.Arg71Gln		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.R71Q	ENST00000378896.3	37	c.212	CCDS13094.1	20	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.577097	0.00887	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	6.07	-0.0901	0.13666	.	1.128040	0.06352	N	0.710087	T	0.05640	0.0148	N	0.00237	-1.79	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.34403	-0.9830	10	0.09338	T	0.73	1.0959	6.3488	0.21365	0.6287:0.1186:0.2527:0.0	.	71;71;71;71	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	71	ENSP00000368174:R71Q;ENSP00000368161:R71Q;ENSP00000368164:R71Q;ENSP00000265187:R71Q	ENSP00000265187:R71Q	R	+	2	0	MCM8	5881133	0.011000	0.17503	0.018000	0.16275	0.055000	0.15305	1.133000	0.31430	-0.279000	0.09167	-1.004000	0.02495	CGA	MCM8	-	NULL	ENSG00000125885		0.343	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1		0.00	45	0	G	NM_032485		5933133	+1			no_errors	ENST00000378886	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.038	A
MDH2	4191	genome.wustl.edu	37	7	75692863	75692863	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:75692863G>T	ENST00000315758.5	+	6	680	c.586G>T	c.(586-588)Gtc>Ttc	p.V196F	MDH2_ENST00000443006.1_Missense_Mutation_p.V89F|MDH2_ENST00000432020.2_Missense_Mutation_p.V154F	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	196					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						CAACGTCCCTGTCATTGGTGG	0.517																																																	0													185.0	141.0	156.0					7																	75692863		2203	4300	6503	SO:0001583	missense	0				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.586G>T	7.37:g.75692863G>T	ENSP00000327070:p.Val196Phe		A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	p.V196F	ENST00000315758.5	37	c.586	CCDS5581.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.209877	0.95069	.	.	ENSG00000146701	ENST00000315758;ENST00000443006;ENST00000432020	T;T;T	0.76186	-1.0;-1.0;-1.0	5.69	5.69	0.88448	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91399	0.7286	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.942;1.0	D	0.93801	0.7101	10	0.87932	D	0	-32.0523	18.7945	0.91988	0.0:0.0:1.0:0.0	.	154;196	E9PDB2;P40926	.;MDHM_HUMAN	F	196;89;154	ENSP00000327070:V196F;ENSP00000416929:V89F;ENSP00000408649:V154F	ENSP00000327070:V196F	V	+	1	0	MDH2	75530799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.554000	0.98121	2.691000	0.91804	0.655000	0.94253	GTC	MDH2	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	ENSG00000146701		0.517	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH2	HGNC	protein_coding	OTTHUMT00000252851.1	-	0.00	67	0	G			75692863	+1	tier1	-	no_errors	ENST00000315758	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	T
MICB	4277	genome.wustl.edu	37	6	31474923	31474923	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:31474923G>T	ENST00000252229.6	+	4	817	c.738G>T	c.(736-738)ttG>ttT	p.L246F	MICB_ENST00000399150.3_Missense_Mutation_p.L203F|MICB_ENST00000538442.1_Missense_Mutation_p.L214F	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GGGTATCTTTGAGCCACAACA	0.587																																																	0													54.0	59.0	57.0					6																	31474923		1377	2617	3994	SO:0001583	missense	0				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.738G>T	6.37:g.31474923G>T	ENSP00000252229:p.Leu246Phe			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L246F	ENST00000252229.6	37	c.738	CCDS43449.1	6	.	.	.	.	.	.	.	.	.	.	-	12.64	1.999926	0.35320	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.03181	4.02;4.02;4.02	2.46	1.55	0.23275	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.718382	0.10666	U	0.648154	T	0.07593	0.0191	M	0.78223	2.4	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.21415	-1.0246	10	0.56958	D	0.05	.	6.8597	0.24060	0.1611:0.0:0.8389:0.0	.	214;203;246	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	F	214;203;246	ENSP00000442345:L214F;ENSP00000382103:L203F;ENSP00000252229:L246F	ENSP00000252229:L246F	L	+	3	2	MICB	31582902	0.015000	0.18098	0.006000	0.13384	0.012000	0.07955	0.673000	0.25203	1.367000	0.46095	0.305000	0.20034	TTG	MICB	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000204516		0.587	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICB	HGNC	protein_coding	OTTHUMT00000076102.3		0.00	90	0	G	NM_005931		31474923	+1			no_errors	ENST00000252229	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.004	T
PTCD2	79810	genome.wustl.edu	37	5	71616208	71616208	+	5'UTR	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:71616208G>T	ENST00000380639.5	+	0	15				MRPS27_ENST00000513900.1_5'Flank|PTCD2_ENST00000543322.1_5'UTR|MRPS27_ENST00000261413.5_5'Flank|MRPS27_ENST00000522095.1_5'Flank|PTCD2_ENST00000536805.1_5'Flank|MRPS27_ENST00000515404.1_5'Flank|MRPS27_ENST00000457646.4_5'Flank|PTCD2_ENST00000503868.1_5'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2						kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CCAGTAGTTGGTATGGTCCGA	0.617																																																	0													49.0	57.0	54.0					5																	71616208		2198	4293	6491	SO:0001623	5_prime_UTR_variant	0			BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.-2G>T	5.37:g.71616208G>T			B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	RNA	SNP	-	NULL	ENST00000380639.5	37	NULL	CCDS4014.2	5																																																																																			MRPS27	-	-	ENSG00000113048		0.617	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218562.6	-	0.00	52	0	G	NM_024754		71616208	-1	tier1	-	no_errors	ENST00000506957	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.049	T
MTBP	27085	genome.wustl.edu	37	8	121483104	121483104	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:121483104G>T	ENST00000305949.1	+	11	1137	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	364					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTAACATACTGATTCCACCTC	0.333																																																	0													157.0	148.0	151.0					8																	121483104		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1092G>T	8.37:g.121483104G>T			B4DUR5|Q9HA89	Silent	SNP	NULL	p.L364	ENST00000305949.1	37	c.1092	CCDS6333.1	8																																																																																			MTBP	-	NULL	ENSG00000172167		0.333	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTBP	HGNC	protein_coding	OTTHUMT00000381530.1	-	0.00	55	0	G	NM_022045		121483104	+1	tier1	-	no_errors	ENST00000305949	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.338	T
MYH4	4622	genome.wustl.edu	37	17	10367852	10367852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:10367852G>T	ENST00000255381.2	-	7	695	c.585C>A	c.(583-585)taC>taA	p.Y195*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	195	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.Y195*(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTTGCAAAGTACTGGATGA	0.428																																																	2	Substitution - Nonsense(2)	lung(2)											102.0	98.0	99.0					17																	10367852		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.585C>A	17.37:g.10367852G>T	ENSP00000255381:p.Tyr195*			Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y195*	ENST00000255381.2	37	c.585	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.198728	0.94997	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.12	3.09	0.35607	.	0.000000	0.34268	U	0.004112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2563	0.54625	0.1471:0.0:0.8529:0.0	.	.	.	.	X	195	.	ENSP00000255381:Y195X	Y	-	3	2	MYH4	10308577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.764000	0.62264	1.278000	0.44430	0.650000	0.86243	TAC	MYH4	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000264424		0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1		0.00	57	0	G	NM_017533		10367852	-1			no_errors	ENST00000255381	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	1.000	T
MYO18A	399687	genome.wustl.edu	37	17	27442774	27442774	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:27442774G>A	ENST00000527372.1	-	12	2315	c.2135C>T	c.(2134-2136)gCc>gTc	p.A712V	MYO18A_ENST00000354329.4_Missense_Mutation_p.A712V|MYO18A_ENST00000531253.1_Missense_Mutation_p.A712V|MYO18A_ENST00000533112.1_Missense_Mutation_p.A712V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	712	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTTGAAGATGGCTGAGGACAG	0.637																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0													32.0	40.0	37.0					17																	27442774		2056	4193	6249	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2135C>T	17.37:g.27442774G>A	ENSP00000437073:p.Ala712Val		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.A712V	ENST00000527372.1	37	c.2135	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871759	0.91587	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.44	5.44	0.79542	Myosin head, motor domain (2);	0.153604	0.64402	D	0.000014	D	0.89952	0.6864	L	0.45698	1.435	0.54753	D	0.99998	P;P;P;P;P	0.48834	0.55;0.873;0.873;0.873;0.916	B;B;B;B;P	0.49799	0.292;0.298;0.385;0.298;0.622	D	0.90617	0.4556	10	0.62326	D	0.03	.	19.2788	0.94042	0.0:0.0:1.0:0.0	.	381;324;712;712;712	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	V	712;712;712;712;712;324	ENSP00000346291:A712V;ENSP00000435932:A712V;ENSP00000434228:A712V;ENSP00000437073:A712V	ENSP00000346291:A712V	A	-	2	0	MYO18A	24466900	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	6.386000	0.73186	2.567000	0.86603	0.655000	0.94253	GCC	MYO18A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000196535		0.637	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1		0.00	63	0	G	NM_078471		27442774	-1			no_errors	ENST00000354329	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A
MYO3B	140469	genome.wustl.edu	37	2	171262136	171262136	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:171262136C>T	ENST00000408978.4	+	21	2656	c.2513C>T	c.(2512-2514)gCt>gTt	p.A838V	MYO3B_ENST00000334231.6_Missense_Mutation_p.A847V|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A838V	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	838	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAGCATTATGCTGGAAAGGTG	0.413																																																	0													97.0	93.0	94.0					2																	171262136		1918	4144	6062	SO:0001583	missense	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2513C>T	2.37:g.171262136C>T	ENSP00000386213:p.Ala838Val		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.A847V	ENST00000408978.4	37	c.2540	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.424761	0.96111	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99331	1.0909	10	0.87932	D	0	.	19.7578	0.96301	0.0:1.0:0.0:0.0	.	838;838;838	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	V	838;838;837;847;847	ENSP00000386497:A838V;ENSP00000386213:A838V;ENSP00000446237:A847V;ENSP00000335100:A847V	ENSP00000314213:A837V	A	+	2	0	MYO3B	170970382	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.722000	0.84778	2.748000	0.94277	0.655000	0.94253	GCT	MYO3B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000071909		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1		0.00	80	0	C			171262136	+1			no_errors	ENST00000334231	ensembl	human	known	74_37	missense	5.43	87	5	SNP	1.000	T
MYRIP	25924	genome.wustl.edu	37	3	40085745	40085745	+	Silent	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:40085745C>T	ENST00000302541.6	+	3	657	c.315C>T	c.(313-315)tgC>tgT	p.C105C	MYRIP_ENST00000396217.3_Missense_Mutation_p.A62V|MYRIP_ENST00000444716.1_Silent_p.C105C|MYRIP_ENST00000425621.1_Silent_p.C105C	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	105	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGGTCTGCTGCGTCTGCCAGC	0.537																																																	0													65.0	61.0	62.0					3																	40085745		2203	4300	6503	SO:0001819	synonymous_variant	0			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.315C>T	3.37:g.40085745C>T			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin	p.A62V	ENST00000302541.6	37	c.185	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531888	0.45073	.	.	ENSG00000170011	ENST00000396217	T	0.35236	1.32	5.51	-8.2	0.01045	.	.	.	.	.	T	0.22475	0.0542	.	.	.	0.42224	D	0.99186	B	0.06786	0.001	B	0.04013	0.001	T	0.15636	-1.0430	7	.	.	.	.	18.6671	0.91495	0.0:0.2092:0.0:0.7908	.	62	Q32M42	.	V	62	ENSP00000379519:A62V	.	A	+	2	0	MYRIP	40060749	0.003000	0.15002	0.457000	0.27056	0.939000	0.58152	-1.290000	0.02777	-1.899000	0.01098	-0.471000	0.05019	GCG	MYRIP	-	NULL	ENSG00000170011		0.537	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2		0.00	34	0	C	NM_015460		40085745	+1			no_errors	ENST00000396217	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.296	T
NACAD	23148	genome.wustl.edu	37	7	45124645	45124645	+	Silent	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:45124645A>G	ENST00000490531.2	-	2	1153	c.1134T>C	c.(1132-1134)ttT>ttC	p.F378F		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	378					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CCCGGAAGGCAAAAGCCTCGT	0.627																																																	0													32.0	32.0	32.0					7																	45124645		692	1591	2283	SO:0001819	synonymous_variant	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1134T>C	7.37:g.45124645A>G				Silent	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	p.F378	ENST00000490531.2	37	c.1134	CCDS47582.1	7																																																																																			NACAD	-	NULL	ENSG00000136274		0.627	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2		0.00	29	0	A	NM_001146334		45124645	-1			no_errors	ENST00000490531	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.998	G
NAV3	89795	genome.wustl.edu	37	12	78522596	78522596	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:78522596C>T	ENST00000397909.2	+	18	4564	c.4391C>T	c.(4390-4392)cCt>cTt	p.P1464L	NAV3_ENST00000536525.2_Missense_Mutation_p.P1464L|NAV3_ENST00000228327.6_Missense_Mutation_p.P1464L|NAV3_ENST00000266692.7_Missense_Mutation_p.P1287L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1464	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGGTTTCCCCTTCTGCCATG	0.448										HNSCC(70;0.22)																																							0													114.0	111.0	112.0					12																	78522596		1906	4127	6033	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4391C>T	12.37:g.78522596C>T	ENSP00000381007:p.Pro1464Leu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.P1464L	ENST00000397909.2	37	c.4391		12	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687442	0.88639	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.38401	1.14;1.19;1.16;1.29;2.26	5.81	5.81	0.92471	.	0.000000	0.40064	U	0.001195	T	0.62792	0.2457	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;0.98;1.0;0.996	D;P;D;D	0.91635	0.979;0.762;0.999;0.923	T	0.62613	-0.6817	10	0.62326	D	0.03	-18.751	20.0755	0.97742	0.0:1.0:0.0:0.0	.	1464;1287;1464;1464	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1464;1464;1464;1287;85;93	ENSP00000446132:P1464L;ENSP00000381007:P1464L;ENSP00000228327:P1464L;ENSP00000266692:P1287L;ENSP00000448303:P93L	ENSP00000228327:P1464L	P	+	2	0	NAV3	77046727	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.594000	0.82698	2.749000	0.94314	0.460000	0.39030	CCT	NAV3	-	NULL	ENSG00000067798		0.448	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0.00	47	0	C	NM_001024383		78522596	+1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	35683448	35683448	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr13:35683448A>G	ENST00000400445.3	+	12	2236	c.1702A>G	c.(1702-1704)Aga>Gga	p.R568G	NBEA_ENST00000379939.2_Missense_Mutation_p.R568G|NBEA_ENST00000310336.4_Missense_Mutation_p.R568G|NBEA_ENST00000540320.1_Missense_Mutation_p.R568G	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	568					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCATATAACTAGAGCTGTCCT	0.328																																																	0													79.0	73.0	75.0					13																	35683448		1818	4069	5887	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1702A>G	13.37:g.35683448A>G	ENSP00000383295:p.Arg568Gly		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R568G	ENST00000400445.3	37	c.1702	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822365	0.50739	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.62501	-0.6841	10	0.26408	T	0.33	.	14.5834	0.68308	1.0:0.0:0.0:0.0	.	568	Q5T321	.	G	568	ENSP00000440951:R568G;ENSP00000383295:R568G;ENSP00000369271:R568G;ENSP00000308534:R568G	ENSP00000308534:R568G	R	+	1	2	NBEA	34581448	0.991000	0.36638	1.000000	0.80357	0.739000	0.42172	1.182000	0.32029	1.854000	0.53819	0.383000	0.25322	AGA	NBEA	-	superfamily_ARM-type_fold	ENSG00000172915		0.328	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding			0.00	60	0	A	NM_015678		35683448	+1			no_errors	ENST00000310336	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	G
NBEA	26960	genome.wustl.edu	37	13	35785239	35785239	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr13:35785239G>T	ENST00000400445.3	+	33	6105	c.5571G>T	c.(5569-5571)gtG>gtT	p.V1857V	NBEA_ENST00000379939.2_Silent_p.V1854V|NBEA_ENST00000310336.4_Silent_p.V1857V|NBEA_ENST00000540320.1_Silent_p.V1857V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1857					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGTTTTGTGAATGGTGCTA	0.373																																																	0													52.0	50.0	51.0					13																	35785239		1839	4017	5856	SO:0001819	synonymous_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5571G>T	13.37:g.35785239G>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.V1857	ENST00000400445.3	37	c.5571	CCDS45026.1	13																																																																																			NBEA	-	NULL	ENSG00000172915		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding			0.00	41	0	G	NM_015678		35785239	+1			no_errors	ENST00000310336	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	T
NCKAP1	10787	genome.wustl.edu	37	2	183817847	183817847	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:183817847G>C	ENST00000361354.4	-	21	2738	c.2366C>G	c.(2365-2367)aCa>aGa	p.T789R	NCKAP1_ENST00000360982.2_Missense_Mutation_p.T795R	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	789					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTACCAATTTGTGTATAGACT	0.289																																																	0													84.0	81.0	82.0					2																	183817847		2203	4299	6502	SO:0001583	missense	0			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2366C>G	2.37:g.183817847G>C	ENSP00000355348:p.Thr789Arg		O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.T795R	ENST00000361354.4	37	c.2384	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026507	0.93518	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35789	1.29;1.29	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.71414	0.973;0.954	T	0.65784	-0.6084	10	0.72032	D	0.01	-15.3272	20.8794	0.99867	0.0:0.0:1.0:0.0	.	789;795	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	R	789;795	ENSP00000355348:T789R;ENSP00000354251:T795R	ENSP00000354251:T795R	T	-	2	0	NCKAP1	183526092	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	ACA	NCKAP1	-	pfam_Nck-associated_protein-1	ENSG00000061676		0.289	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	-	0.00	77	0	G	NM_205842		183817847	-1	tier1	-	no_errors	ENST00000360982	ensembl	human	known	74_37	missense	7.78	83	7	SNP	1.000	C
NCSTN	23385	genome.wustl.edu	37	1	160314633	160314633	+	Intron	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:160314633T>C	ENST00000294785.5	+	2	315				COPA_ENST00000368069.3_5'Flank|COPA_ENST00000241704.7_5'Flank|NCSTN_ENST00000368063.1_Intron|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000392212.4_Intron	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGATGGATTCATGTTTGTG	0.428																																																	0													78.0	63.0	68.0					1																	160314633		2203	4300	6503	SO:0001627	intron_variant	0			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.190+17T>C	1.37:g.160314633T>C			Q5T207|Q5T208|Q86VV5	RNA	SNP	-	NULL	ENST00000294785.5	37	NULL	CCDS1203.1	1																																																																																			NCSTN	-	-	ENSG00000162736		0.428	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	-	0.00	31	0	T	NM_015331		160314633	+1	tier1	-	no_errors	ENST00000465223	ensembl	human	known	74_37	rna	60.00	12	18	SNP	0.879	C
NEBL	10529	genome.wustl.edu	37	10	21112176	21112176	+	Silent	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:21112176T>C	ENST00000377122.4	-	19	2319	c.1923A>G	c.(1921-1923)gaA>gaG	p.E641E	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	641					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCTCTTTAGTTCTGGAGGAT	0.299																																																	0													115.0	109.0	111.0					10																	21112176		2203	4300	6503	SO:0001819	synonymous_variant	0			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1923A>G	10.37:g.21112176T>C			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.E641	ENST00000377122.4	37	c.1923	CCDS7134.1	10																																																																																			NEBL	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000078114		0.299	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	-	0.00	51	0	T	NM_006393		21112176	-1	tier1	-	no_errors	ENST00000377122	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.988	C
NF1	4763	genome.wustl.edu	37	17	29576057	29576057	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:29576057G>A	ENST00000358273.4	+	30	4413	c.4030G>A	c.(4030-4032)Gaa>Aaa	p.E1344K	NF1_ENST00000356175.3_Missense_Mutation_p.E1344K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1344	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.E1344K(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAGATGACTGAAAAGTTCTT	0.398			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|urinary_tract(2)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	GRCh37	CD086550	NF1	D							150.0	137.0	141.0					17																	29576057		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4030G>A	17.37:g.29576057G>A	ENSP00000351015:p.Glu1344Lys		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.E1344K	ENST00000358273.4	37	c.4030	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559862	0.86335	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.82893	-1.66;-1.66;-1.66	5.74	5.74	0.90152	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	L	0.41415	1.275	0.80722	D	1	B;B;B;B	0.25441	0.126;0.034;0.081;0.018	B;B;B;B	0.30782	0.12;0.038;0.046;0.068	T	0.72909	-0.4149	10	0.21540	T	0.41	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	1344;394;1344;1344	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	K	1344;1344;1010	ENSP00000351015:E1344K;ENSP00000348498:E1344K;ENSP00000389907:E1010K	ENSP00000348498:E1344K	E	+	1	0	NF1	26600183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.488000	0.81441	2.873000	0.98535	0.563000	0.77884	GAA	NF1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP	ENSG00000196712		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2		0.00	45	0	G	NM_000267		29576057	+1			no_errors	ENST00000358273	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A
NIN	51199	genome.wustl.edu	37	14	51227050	51227050	+	Missense_Mutation	SNP	C	C	T	rs200193453	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:51227050C>T	ENST00000382041.3	-	17	2114	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	NIN_ENST00000324330.9_Missense_Mutation_p.E642K|NIN_ENST00000530997.2_Missense_Mutation_p.E642K|NIN_ENST00000389868.3_Missense_Mutation_p.E642K|NIN_ENST00000382043.4_Missense_Mutation_p.E642K|NIN_ENST00000453196.1_Missense_Mutation_p.E642K|NIN_ENST00000245441.5_Missense_Mutation_p.E642K	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	642					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.E648K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACCACGGTTTCGTCCAGCTGC	0.463			T	PDGFRB	MPD								C|||	4	0.000798722	0.0023	0.0014	5008	,	,		21134	0.0		0.0	False		,,,				2504	0.0							Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	1	Substitution - Missense(1)	lung(1)						C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4361		0,1,2180	52.0	55.0	54.0		1924,1924,1924,1924	5.0	0.6	14		54	0,8522		0,0,4261	no	missense,missense,missense,missense	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	56,56,56,56	0,1,6441	TT,TC,CC		0.0,0.0229,0.0078	benign,benign,benign,benign	642/1378,642/2134,642/2047,642/2091	51227050	1,12883	2181	4261	6442	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1924G>A	14.37:g.51227050C>T	ENSP00000371472:p.Glu642Lys		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.E642K	ENST00000382041.3	37	c.1924	CCDS32079.1	14	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	12.26|12.26	1.885058|1.885058	0.33255|0.33255	2.29E-4|2.29E-4	0.0|0.0	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.12039|.	3.47;2.72;2.72;3.21;3.21;3.21|.	5.93|5.93	5.04|5.04	0.67666|0.67666	.|.	0.400583|.	0.29529|.	N|.	0.011887|.	T|T	0.70500|0.70500	0.3231|0.3231	L|L	0.59436|0.59436	1.845|1.845	0.39029|0.39029	D|D	0.959904|0.959904	P;D;D;P;D|.	0.65815|.	0.688;0.995;0.989;0.923;0.975|.	B;P;P;B;B|.	0.53102|.	0.105;0.718;0.634;0.165;0.4|.	T|T	0.71517|0.71517	-0.4569|-0.4569	10|5	0.10902|.	T|.	0.67|.	-3.8177|-3.8177	16.4556|16.4556	0.84011|0.84011	0.0:0.8691:0.1309:0.0|0.0:0.8691:0.1309:0.0	.|.	648;642;642;642;642|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	K|Q	642;625;642;642;648;642;642;642|132	ENSP00000245441:E642K;ENSP00000374518:E642K;ENSP00000371474:E642K;ENSP00000371472:E642K;ENSP00000324210:E642K;ENSP00000412391:E642K|.	ENSP00000245441:E642K|.	E|R	-|-	1|2	0|0	NIN|NIN	50296800|50296800	0.988000|0.988000	0.35896|0.35896	0.630000|0.630000	0.29268|0.29268	0.018000|0.018000	0.09664|0.09664	2.625000|2.625000	0.46452|0.46452	1.496000|1.496000	0.48567|0.48567	0.591000|0.591000	0.81541|0.81541	GAA|CGA	NIN	-	NULL	ENSG00000100503		0.463	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2		0.00	57	0	C	NM_182946		51227050	-1			no_errors	ENST00000245441	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.984	T
NIPAL4	348938	genome.wustl.edu	37	5	156899589	156899589	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:156899589T>G	ENST00000311946.7	+	6	1138	c.1022T>G	c.(1021-1023)gTc>gGc	p.V341G	NIPAL4_ENST00000435489.2_Missense_Mutation_p.V322G|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	341						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						AGCACTCAGGTCAACTTCCTC	0.552											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													161.0	158.0	159.0					5																	156899589		2082	4217	6299	SO:0001583	missense	0			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1022T>G	5.37:g.156899589T>G	ENSP00000311687:p.Val341Gly	1782	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.V341G	ENST00000311946.7	37	c.1022	CCDS47328.1	5	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782772	0.90282	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.91686	-2.89;-2.89	6.04	6.04	0.98038	.	0.106353	0.64402	D	0.000006	D	0.95974	0.8689	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	D	0.96333	0.9245	10	0.87932	D	0	-11.3532	16.5763	0.84648	0.0:0.0:0.0:1.0	.	322;341	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	G	322;341	ENSP00000406456:V322G;ENSP00000311687:V341G	ENSP00000311687:V341G	V	+	2	0	NIPAL4	156832167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	GTC	NIPAL4	-	pfam_Mg_trans_NIPA	ENSG00000172548		0.552	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL4	HGNC	protein_coding	OTTHUMT00000373789.1	-	0.00	54	0	T	NM_001099287		156899589	+1	tier1	-	no_errors	ENST00000311946	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	G
NLRC3	197358	genome.wustl.edu	37	16	3613531	3613531	+	RNA	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:3613531G>A	ENST00000301749.7	-	0	1812				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCTGGATGCGCCATAGTAAT	0.617																																																	0													27.0	30.0	29.0					16																	3613531		2034	4191	6225			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613531G>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.G516	ENST00000301749.7	37	c.1548		16																																																																																			NLRC3	-	NULL	ENSG00000167984		0.617	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		-	0.00	55	0	G	NM_178844		3613531	-1	tier1	-	no_errors	ENST00000448023	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.000	A
NRG1	3084	genome.wustl.edu	37	8	32505698	32505698	+	Intron	SNP	A	A	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:32505698A>C	ENST00000405005.3	+	5	502				NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.Q154H			Q02297	NRG1_HUMAN	neuregulin 1						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)			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)		GTGAGGTTCAAGTTACAGTGC	0.493																																																	0													195.0	164.0	175.0					8																	32505698		2203	4300	6503	SO:0001627	intron_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.502+31295A>C	8.37:g.32505698A>C			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	Missense_Mutation	SNP	smart_EG-like_dom,pfscan_EG-like_dom	p.Q154H	ENST00000405005.3	37	c.462	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	0.975	-0.698992	0.03279	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.77	3.08	0.35506	.	.	.	.	.	T	0.28333	0.0700	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04294	-1.0962	8	0.18710	T	0.47	.	5.7009	0.17881	0.7235:0.0:0.1485:0.128	.	154;154	Q53F54;Q02297-10	.;.	H	154;114	.	ENSP00000433289:Q154H	Q	+	3	2	NRG1	32625240	1.000000	0.71417	0.996000	0.52242	0.334000	0.28698	1.252000	0.32874	0.412000	0.25729	0.533000	0.62120	CAA	NRG1	-	NULL	ENSG00000157168		0.493	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0.00	42	0	A			32505698	+1	tier1	-	no_errors	ENST00000520502	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.996	C
NTNG2	84628	genome.wustl.edu	37	9	135102326	135102326	+	Silent	SNP	C	C	T	rs200407107		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:135102326C>T	ENST00000393229.3	+	4	1724	c.948C>T	c.(946-948)tgC>tgT	p.C316C	NTNG2_ENST00000393228.4_Silent_p.C316C|NTNG2_ENST00000360670.3_Silent_p.C316C|NTNG2_ENST00000372179.3_Silent_p.C316C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	316	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCCGACTGCGGCAAGTGCA	0.677																																																	0													47.0	42.0	44.0					9																	135102326		2203	4298	6501	SO:0001819	synonymous_variant	0			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.948C>T	9.37:g.135102326C>T			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.C316	ENST00000393229.3	37	c.948	CCDS6946.1	9																																																																																			NTNG2	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000196358		0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	-	0.00	111	0	C	NM_032536		135102326	+1	tier1	rs200407107	no_errors	ENST00000360670	ensembl	human	known	74_37	silent	65.22	24	45	SNP	0.994	T
NUP205	23165	genome.wustl.edu	37	7	135303237	135303237	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:135303237G>T	ENST00000285968.6	+	28	3875	c.3849G>T	c.(3847-3849)ctG>ctT	p.L1283L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1283					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTCATGCTCTGGAGTCGTGGA	0.423																																																	0													174.0	161.0	165.0					7																	135303237		2203	4300	6503	SO:0001819	synonymous_variant	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3849G>T	7.37:g.135303237G>T			A6H8X3|Q86YC1	Silent	SNP	pfam_Nup186/Nup192/Nup205	p.L1283	ENST00000285968.6	37	c.3849	CCDS34759.1	7																																																																																			NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1		0.00	48	0	G			135303237	+1			no_errors	ENST00000285968	ensembl	human	known	74_37	silent	6.45	29	2	SNP	1.000	T
NUP93	9688	genome.wustl.edu	37	16	56839482	56839482	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:56839482C>T	ENST00000308159.5	+	5	548	c.427C>T	c.(427-429)Cga>Tga	p.R143*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.R143*|NUP93_ENST00000542526.1_Nonsense_Mutation_p.R20*|NUP93_ENST00000564887.1_Nonsense_Mutation_p.R20*|NUP93_ENST00000569595.1_3'UTR	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	143					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGTGAAACAGCGAATTCTGCA	0.468																																					Colon(33;610 796 1305 1705 38917)												0													101.0	93.0	96.0					16																	56839482		2198	4300	6498	SO:0001587	stop_gained	0			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.427C>T	16.37:g.56839482C>T	ENSP00000310668:p.Arg143*		B3KPQ8|Q14705	Nonsense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.R143*	ENST00000308159.5	37	c.427	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027824	0.75390	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	.	.	.	5.19	3.0	0.34707	.	0.046433	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.237	11.1775	0.48607	0.6145:0.3855:0.0:0.0	.	.	.	.	X	143;20	.	ENSP00000310668:R143X	R	+	1	2	NUP93	55396983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.715000	0.37971	1.106000	0.41623	0.561000	0.74099	CGA	NUP93	-	NULL	ENSG00000102900		0.468	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0.00	67	0	C	NM_014669		56839482	+1	tier1	-	no_errors	ENST00000308159	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T
NUTM1	256646	genome.wustl.edu	37	15	34640383	34640383	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:34640383G>A	ENST00000333756.4	+	2	385	c.230G>A	c.(229-231)gGc>gAc	p.G77D	NUTM1_ENST00000537011.1_Missense_Mutation_p.G105D|NUTM1_ENST00000438749.3_Missense_Mutation_p.G95D	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	77	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGGATGGGGGCCCTTGCCTC	0.557																																																	0													85.0	85.0	85.0					15																	34640383		2201	4298	6499	SO:0001583	missense	0			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.230G>A	15.37:g.34640383G>A	ENSP00000329448:p.Gly77Asp		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	NULL	p.G77D	ENST00000333756.4	37	c.230	CCDS32190.1	15	.	.	.	.	.	.	.	.	.	.	G	8.766	0.924767	0.18056	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.28069	1.63;1.63;1.63	5.69	0.232	0.15381	Nuclear Testis  protein, N-terminal (1);	0.364393	0.23444	N	0.048118	T	0.27900	0.0687	M	0.78049	2.395	0.09310	N	1	B;B;B	0.25390	0.059;0.125;0.041	B;B;B	0.26202	0.066;0.039;0.067	T	0.34925	-0.9809	10	0.72032	D	0.01	.	1.4586	0.02391	0.1636:0.1441:0.396:0.2964	.	95;105;77	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	D	105;95;77;77	ENSP00000444896:G105D;ENSP00000407031:G95D;ENSP00000329448:G77D	ENSP00000329448:G77D	G	+	2	0	C15orf55	32427675	0.048000	0.20356	0.006000	0.13384	0.440000	0.31957	0.390000	0.20768	0.057000	0.16193	-0.136000	0.14681	GGC	NUTM1	-	NULL	ENSG00000184507		0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTM1	HGNC	protein_coding	OTTHUMT00000418026.1		0.00	42	0	G	NM_175741		34640383	+1			no_errors	ENST00000333756	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.007	A
OBSCN	84033	genome.wustl.edu	37	1	228481160	228481160	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:228481160G>C	ENST00000422127.1	+	41	11018	c.10974G>C	c.(10972-10974)tgG>tgC	p.W3658C	OBSCN_ENST00000284548.11_Missense_Mutation_p.W3658C|OBSCN_ENST00000366709.4_Missense_Mutation_p.W777C|OBSCN_ENST00000359599.6_Missense_Mutation_p.W2505C|OBSCN_ENST00000570156.2_Missense_Mutation_p.W4087C|OBSCN_ENST00000366707.4_Missense_Mutation_p.W777C|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3658	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGTGGTGGAAGGGGCATG	0.632																																																	0													88.0	91.0	90.0					1																	228481160		2126	4233	6359	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10974G>C	1.37:g.228481160G>C	ENSP00000409493:p.Trp3658Cys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.W3658C	ENST00000422127.1	37	c.10974	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.049694	0.36181	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.471452	0.23545	N	0.047033	T	0.08268	0.0206	L	0.27053	0.805	0.44155	D	0.996953	P;P	0.52170	0.951;0.827	P;P	0.58331	0.837;0.726	T	0.26643	-1.0097	10	0.41790	T	0.15	.	8.9627	0.35856	0.1738:0.0:0.8262:0.0	.	3658;3658	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3658;3658;777;777;2505	ENSP00000284548:W3658C;ENSP00000409493:W3658C;ENSP00000355668:W777C;ENSP00000355670:W777C;ENSP00000352613:W2505C	ENSP00000284548:W3658C	W	+	3	0	OBSCN	226547783	0.004000	0.15560	0.994000	0.49952	0.015000	0.08874	0.109000	0.15417	2.200000	0.70718	0.467000	0.42956	TGG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154358		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0.00	43	0	G	NM_052843		228481160	+1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	16.67	50	10	SNP	0.923	C
OBSL1	23363	genome.wustl.edu	37	2	220435003	220435003	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:220435003C>T	ENST00000404537.1	-	1	1008	c.952G>A	c.(952-954)Gtc>Atc	p.V318I	OBSL1_ENST00000265318.4_Missense_Mutation_p.V318I|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373873.4_Missense_Mutation_p.V318I|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000603926.1_Missense_Mutation_p.V318I|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000373876.1_Missense_Mutation_p.V318I|INHA_ENST00000489456.1_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	318	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCGGCGCAGACGTAGAGCCCA	0.701																																																	0													21.0	25.0	24.0					2																	220435003		2044	4159	6203	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.952G>A	2.37:g.220435003C>T	ENSP00000385636:p.Val318Ile		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V318I	ENST00000404537.1	37	c.952	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134147	0.77662	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.8	3.89	0.44902	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68732	0.3033	N	0.17345	0.48	0.80722	D	1	P;D	0.67145	0.945;0.996	P;P	0.55871	0.786;0.585	T	0.66221	-0.5978	9	0.31617	T	0.26	.	12.0375	0.53433	0.0:0.8576:0.0:0.1424	.	318;318	O75147;O75147-2	OBSL1_HUMAN;.	I	318	ENSP00000265318:V318I;ENSP00000385636:V318I;ENSP00000362983:V318I;ENSP00000362980:V318I	ENSP00000265318:V318I	V	-	1	0	OBSL1	220143247	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.557000	0.45871	2.491000	0.84063	0.407000	0.27541	GTC	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000124006		0.701	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1		0.00	17	0	C			220435003	-1			no_errors	ENST00000404537	ensembl	human	known	74_37	missense	29.41	12	5	SNP	1.000	T
OCA2	4948	genome.wustl.edu	37	15	28000611	28000611	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:28000611A>G	ENST00000354638.3	-	24	2595	c.2440T>C	c.(2440-2442)Ttc>Ctc	p.F814L	OCA2_ENST00000353809.5_Missense_Mutation_p.F790L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	814					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATCATTGGGAAGCCCAGCCTG	0.443									Oculocutaneous Albinism																																								0													140.0	119.0	126.0					15																	28000611		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2440T>C	15.37:g.28000611A>G	ENSP00000346659:p.Phe814Leu		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.F814L	ENST00000354638.3	37	c.2440	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247613	0.59103	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	T;T	0.77229	-1.08;-1.08	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	L	0.52573	1.65	0.80722	D	1	D;P	0.59357	0.985;0.592	P;B	0.60609	0.877;0.348	T	0.83308	-0.0024	10	0.54805	T	0.06	-24.6446	12.4805	0.55839	1.0:0.0:0.0:0.0	.	790;814	Q04671-2;Q04671	.;P_HUMAN	L	814;790	ENSP00000346659:F814L;ENSP00000261276:F790L	ENSP00000261276:F790L	F	-	1	0	OCA2	25674206	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	5.005000	0.63972	2.208000	0.71279	0.460000	0.39030	TTC	OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	-	0.00	37	0	A	NM_000275		28000611	-1	tier1	-	no_errors	ENST00000354638	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	G
OR10A3	26496	genome.wustl.edu	37	11	7960520	7960520	+	Missense_Mutation	SNP	G	G	T	rs200724726		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:7960520G>T	ENST00000360759.3	-	1	621	c.548C>A	c.(547-549)cCg>cAg	p.P183Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	183					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183Q(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTAGTACCGGGGGAGTCTC	0.433																																																	1	Substitution - Missense(1)	lung(1)											81.0	78.0	79.0					11																	7960520		2201	4296	6497	SO:0001583	missense	0			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.548C>A	11.37:g.7960520G>T	ENSP00000353988:p.Pro183Gln		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P183Q	ENST00000360759.3	37	c.548	CCDS31421.1	11	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388769	0.25118	.	.	ENSG00000170683	ENST00000360759	T	0.00137	8.68	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.374582	0.18897	U	0.128139	T	0.00384	0.0012	M	0.62088	1.915	0.09310	N	1	P	0.46987	0.888	P	0.58172	0.834	T	0.58983	-0.7539	10	0.87932	D	0	.	16.0778	0.80979	0.0:0.0:1.0:0.0	.	183	P58181	O10A3_HUMAN	Q	183	ENSP00000353988:P183Q	ENSP00000353988:P183Q	P	-	2	0	OR10A3	7917096	0.993000	0.37304	0.026000	0.17262	0.001000	0.01503	6.122000	0.71608	2.742000	0.94016	0.650000	0.86243	CCG	OR10A3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000170683		0.433	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A3	HGNC	protein_coding	OTTHUMT00000385704.1		0.00	35	0	G	NM_001003745		7960520	-1			no_errors	ENST00000360759	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.005	T
OR10G8	219869	genome.wustl.edu	37	11	123900725	123900725	+	Silent	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:123900725C>T	ENST00000431524.1	+	1	429	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAGGTACACCAGCATGATGA	0.542																																																	0													155.0	144.0	148.0					11																	123900725		2201	4299	6500	SO:0001819	synonymous_variant	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.396C>T	11.37:g.123900725C>T			B2RNJ3|Q6IEV2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T132	ENST00000431524.1	37	c.396	CCDS31704.1	11																																																																																			OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000234560		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0.00	73	0	C	NM_001004464		123900725	+1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	silent	55.71	31	39	SNP	0.011	T
OR2AK2	391191	genome.wustl.edu	37	1	248128938	248128938	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:248128938C>T	ENST00000366480.3	+	1	404	c.305C>T	c.(304-306)tCa>tTa	p.S102L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGCTTCCTCTCACAGAGTAAG	0.468																																					Melanoma(45;390 1181 23848 28461 41504)												0													229.0	204.0	212.0					1																	248128938		2203	4300	6503	SO:0001583	missense	0			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.305C>T	1.37:g.248128938C>T	ENSP00000355436:p.Ser102Leu		B2RND1|Q6IF05	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S102L	ENST00000366480.3	37	c.305	CCDS31102.1	1	.	.	.	.	.	.	.	.	.	.	.	10.36	1.329381	0.24167	.	.	ENSG00000187080	ENST00000366480	T	0.01335	5.0	3.15	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01387	0.0045	L	0.52364	1.645	0.09310	N	1	P	0.45594	0.862	B	0.40864	0.342	T	0.33420	-0.9869	9	0.08837	T	0.75	.	4.0486	0.09785	0.2149:0.5913:0.0:0.1937	.	102	Q8NG84	O2AK2_HUMAN	L	102	ENSP00000355436:S102L	ENSP00000355436:S102L	S	+	2	0	OR2AK2	246195561	0.000000	0.05858	0.002000	0.10522	0.187000	0.23431	-1.777000	0.01780	0.617000	0.30160	-0.538000	0.04264	TCA	OR2AK2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000187080		0.468	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AK2	HGNC	protein_coding	OTTHUMT00000096858.2	-	0.00	52	0	C	NM_001004491		248128938	+1	tier1	-	no_errors	ENST00000366480	ensembl	human	known	74_37	missense	49.25	34	33	SNP	0.000	T
OR2T7	81458	genome.wustl.edu	37	1	248604716	248604716	+	Missense_Mutation	SNP	C	C	T	rs532075279	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:248604716C>T	ENST00000460972.3	+	1	209	c.209C>T	c.(208-210)cCc>cTc	p.P70L				P0C7T2	OR2T7_HUMAN	olfactory receptor, family 2, subfamily T, member 7	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										ACCATTGTGCCCAAAATGCTG	0.532																																																	0																																										SO:0001583	missense	0					1q44	2013-09-05		2004-03-10	ENSG00000227152	ENSG00000227152		"""GPCR / Class A : Olfactory receptors"""	15019	protein-coding gene	gene with protein product				OR2T7P			Standard	NG_004272		Approved	OST723		P0C7T2	OTTHUMG00000040449	ENST00000460972.3:c.209C>T	1.37:g.248604716C>T	ENSP00000475521:p.Pro70Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P70L	ENST00000460972.3	37	c.209		1																																																																																			OR2T7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000227152		0.532	OR2T7-001	KNOWN	basic|appris_principal	protein_coding	OR2T7	HGNC	protein_coding	OTTHUMT00000097345.3	-	0.00	31	0	C			248604716	+1	tier1	-	no_errors	ENST00000460972	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	T
OR2T27	403239	genome.wustl.edu	37	1	248813950	248813950	+	Missense_Mutation	SNP	G	G	A	rs368069888	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:248813950G>A	ENST00000344889.3	-	1	235	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCATTTTGGGCACAATGGT	0.532																																																	0													34.0	24.0	27.0					1																	248813950		2197	4272	6469	SO:0001583	missense	0				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.236C>T	1.37:g.248813950G>A	ENSP00000342008:p.Pro79Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P79L	ENST00000344889.3	37	c.236	CCDS31124.1	1	.	.	.	.	.	.	.	.	.	.	.	14.86	2.662774	0.47572	.	.	ENSG00000187701	ENST00000344889	T	0.25749	1.78	3.23	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	N	0.001393	T	0.61173	0.2326	H	0.96833	3.89	0.49130	D	0.999753	D	0.55800	0.973	P	0.62885	0.908	T	0.76547	-0.2919	10	0.87932	D	0	.	13.7534	0.62921	0.0:0.0:1.0:0.0	.	79	Q8NH04	O2T27_HUMAN	L	79	ENSP00000342008:P79L	ENSP00000342008:P79L	P	-	2	0	OR2T27	246880573	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	7.851000	0.86920	1.817000	0.53016	0.194000	0.17425	CCC	OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000187701		0.532	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1		0.00	66	0	G	NM_001001824		248813950	-1			no_errors	ENST00000344889	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.999	A
OR4A15	81328	genome.wustl.edu	37	11	55135763	55135763	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:55135763T>G	ENST00000314706.3	+	1	404	c.404T>G	c.(403-405)tTt>tGt	p.F135C		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATCATTTATTTGCTGGTGCT	0.413																																																	0													169.0	165.0	167.0					11																	55135763		2201	4296	6497	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.404T>G	11.37:g.55135763T>G	ENSP00000325065:p.Phe135Cys		Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F135C	ENST00000314706.3	37	c.404	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	t	11.08	1.534967	0.27475	.	.	ENSG00000181958	ENST00000314706	T	0.00381	7.63	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000088	T	0.00524	0.0017	M	0.80746	2.51	0.34888	D	0.745255	B	0.32781	0.384	B	0.40038	0.317	T	0.51741	-0.8667	10	0.72032	D	0.01	.	10.0108	0.41986	0.0:0.0:0.0:1.0	.	135	Q8NGL6	O4A15_HUMAN	C	135	ENSP00000325065:F135C	ENSP00000325065:F135C	F	+	2	0	OR4A15	54892339	0.012000	0.17670	0.874000	0.34290	0.438000	0.31896	1.826000	0.39092	1.456000	0.47831	0.403000	0.27427	TTT	OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181958		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	-	0.00	76	0	T	NM_001005275		55135763	+1	tier1	-	no_errors	ENST00000314706	ensembl	human	known	74_37	missense	65.45	19	36	SNP	0.998	G
OR5K4	403278	genome.wustl.edu	37	3	98073607	98073607	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:98073607A>T	ENST00000354924.2	+	1	910	c.910A>T	c.(910-912)Aat>Tat	p.N304Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AATTATGAGGAATTATAACAT	0.239																																																	0													71.0	90.0	83.0					3																	98073607		2162	4246	6408	SO:0001583	missense	0				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.910A>T	3.37:g.98073607A>T	ENSP00000347003:p.Asn304Tyr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N304Y	ENST00000354924.2	37	c.910	CCDS33802.1	3	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381981	0.24944	.	.	ENSG00000196098	ENST00000354924	T	0.37058	1.22	4.83	2.38	0.29361	.	0.777035	0.10423	U	0.676511	T	0.25382	0.0617	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.26430	-1.0103	10	0.87932	D	0	8.5381	5.4065	0.16324	0.7576:0.0:0.0874:0.155	.	304	A6NMS3	OR5K4_HUMAN	Y	304	ENSP00000347003:N304Y	ENSP00000347003:N304Y	N	+	1	0	OR5K4	99556297	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	2.006000	0.40874	0.393000	0.25203	0.438000	0.28831	AAT	OR5K4	-	NULL	ENSG00000196098		0.239	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K4	HGNC	protein_coding	OTTHUMT00000359114.1	-	0.00	43	0	A			98073607	+1	tier1	-	no_errors	ENST00000354924	ensembl	human	known	74_37	missense	43.40	30	23	SNP	0.003	T
OR7G1	125962	genome.wustl.edu	37	19	9225668	9225668	+	Missense_Mutation	SNP	C	C	T	rs546098161		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:9225668C>T	ENST00000541538.1	-	1	771	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	OR7G1_ENST00000293614.1_Missense_Mutation_p.V258M	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTAATGTACACCCCAAAAGCT	0.458																																																	0													108.0	101.0	103.0					19																	9225668		2203	4300	6503	SO:0001583	missense	0				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.772G>A	19.37:g.9225668C>T	ENSP00000444134:p.Val258Met		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V258M	ENST00000541538.1	37	c.772	CCDS32898.2	19	.	.	.	.	.	.	.	.	.	.	c	13.07	2.128718	0.37533	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00051	8.81;8.81	3.12	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34676	U	0.003765	T	0.00328	0.0010	L	0.52126	1.63	0.09310	N	1	D	0.57571	0.98	D	0.65443	0.935	T	0.57957	-0.7721	10	0.72032	D	0.01	.	14.1378	0.65297	0.0:1.0:0.0:0.0	.	258	Q8NGA0	OR7G1_HUMAN	M	258	ENSP00000293614:V258M;ENSP00000444134:V258M	ENSP00000293614:V258M	V	-	1	0	OR7G1	9086668	0.000000	0.05858	0.275000	0.24674	0.020000	0.10135	-0.569000	0.05902	2.093000	0.63338	0.501000	0.49751	GTG	OR7G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000161807		0.458	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	-	0.00	33	0	C			9225668	-1	tier1	-	no_errors	ENST00000293614	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.001	T
PAQR5	54852	genome.wustl.edu	37	15	69689881	69689881	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:69689881A>G	ENST00000340965.3	+	7	1255	c.587A>G	c.(586-588)gAc>gGc	p.D196G	RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Missense_Mutation_p.D196G|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.D196G	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	196					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TACACCTGGGACTCCCTCCCC	0.527																																																	0													193.0	157.0	169.0					15																	69689881		2199	4298	6497	SO:0001583	missense	0				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.587A>G	15.37:g.69689881A>G	ENSP00000343877:p.Asp196Gly		Q8IXU2	Missense_Mutation	SNP	pfam_HlyIII-related	p.D196G	ENST00000340965.3	37	c.587	CCDS10232.1	15	.	.	.	.	.	.	.	.	.	.	A	17.38	3.376058	0.61735	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.26223	1.75;1.75	5.12	3.96	0.45880	.	0.139890	0.64402	D	0.000004	T	0.27765	0.0683	L	0.31804	0.96	0.58432	D	0.99999	D	0.59357	0.985	P	0.60949	0.881	T	0.08617	-1.0713	10	0.11485	T	0.65	-13.3002	7.9162	0.29818	0.8174:0.0:0.0:0.1826	.	196	Q9NXK6	MPRG_HUMAN	G	196	ENSP00000378803:D196G;ENSP00000343877:D196G	ENSP00000343877:D196G	D	+	2	0	PAQR5	67476935	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	6.086000	0.71352	0.929000	0.37192	0.459000	0.35465	GAC	PAQR5	-	pfam_HlyIII-related	ENSG00000137819		0.527	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1		0.00	78	0	A	NM_017705		69689881	+1			no_errors	ENST00000340965	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G
PCDHB7	56129	genome.wustl.edu	37	5	140552823	140552823	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:140552823G>T	ENST00000231137.3	+	1	581	c.407G>T	c.(406-408)aGa>aTa	p.R136I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	136					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCTAGACAGAGAGATTTCC	0.438																																																	0													57.0	62.0	61.0					5																	140552823		2203	4300	6503	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.407G>T	5.37:g.140552823G>T	ENSP00000231137:p.Arg136Ile		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R136I	ENST00000231137.3	37	c.407	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	5.821	0.335789	0.11013	.	.	ENSG00000113212	ENST00000231137	T	0.20069	2.1	4.61	-5.24	0.02789	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.18509	0.0444	L	0.58354	1.805	0.09310	N	1	B	0.33549	0.417	B	0.33392	0.163	T	0.29852	-0.9998	9	0.66056	D	0.02	.	8.8806	0.35372	0.6344:0.2399:0.1257:0.0	.	136	Q9Y5E2	PCDB7_HUMAN	I	136	ENSP00000231137:R136I	ENSP00000231137:R136I	R	+	2	0	PCDHB7	140533007	0.000000	0.05858	0.094000	0.20943	0.218000	0.24690	-1.108000	0.03313	-0.772000	0.04602	-0.211000	0.12701	AGA	PCDHB7	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000113212		0.438	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	-	0.00	50	0	G	NM_018940		140552823	+1	tier1	-	no_errors	ENST00000231137	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.000	T
PCDHB12	56124	genome.wustl.edu	37	5	140589508	140589508	+	Silent	SNP	C	C	T	rs377624441		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:140589508C>T	ENST00000239450.2	+	1	1218	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PCDHB12_ENST00000541609.1_Silent_p.N6N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	343	Cadherin 3. {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)	p.N343N(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAACGACAACGCTCCTGAAA	0.433																																																	1	Substitution - coding silent(1)	lung(1)						T		1,4403	825.2+/-416.5	0,1,2201	83.0	83.0	83.0		1029	1.6	0.8	5		83	0,8600		0,0,4300	no	coding-synonymous	PCDHB12	NM_018932.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		343/796	140589508	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1029C>T	5.37:g.140589508C>T			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N343	ENST00000239450.2	37	c.1029	CCDS4254.1	5																																																																																			PCDHB12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120328		0.433	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0.00	74	0	C	NM_018932		140589508	+1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.641	T
PCLO	27445	genome.wustl.edu	37	7	82544889	82544889	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:82544889C>A	ENST00000333891.9	-	7	12750	c.12413G>T	c.(12412-12414)aGc>aTc	p.S4138I	PCLO_ENST00000437081.1_Missense_Mutation_p.S858I|PCLO_ENST00000423517.2_Missense_Mutation_p.S4138I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGATCTAAGCTCTCTGTCCC	0.408																																																	0													121.0	113.0	116.0					7																	82544889		1890	4115	6005	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12413G>T	7.37:g.82544889C>A	ENSP00000334319:p.Ser4138Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S4138I	ENST00000333891.9	37	c.12413	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504370	0.44558	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.23754	1.89;1.89	5.57	4.69	0.59074	.	.	.	.	.	T	0.44644	0.1303	M	0.71036	2.16	0.43953	D	0.996629	B;D;D	0.57571	0.303;0.98;0.98	B;P;P	0.56700	0.121;0.804;0.804	T	0.48969	-0.8987	9	0.87932	D	0	.	14.4306	0.67246	0.0:0.9292:0.0:0.0708	.	4069;4138;4138	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	I	4138;4138;858	ENSP00000334319:S4138I;ENSP00000388393:S4138I	ENSP00000334319:S4138I	S	-	2	0	PCLO	82382825	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	2.645000	0.46621	1.348000	0.45733	0.557000	0.71058	AGC	PCLO	-	NULL	ENSG00000186472		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	66	0	C	NM_014510		82544889	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	31.25	33	15	SNP	0.997	A
PCNXL4	64430	genome.wustl.edu	37	14	60592386	60592386	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:60592386A>C	ENST00000406854.1	+	10	3666	c.3112A>C	c.(3112-3114)Agt>Cgt	p.S1038R	PCNXL4_ENST00000406949.1_Missense_Mutation_p.S804R|PCNXL4_ENST00000535349.1_Missense_Mutation_p.S245R|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S1038R|PCNXL4_ENST00000317623.4_Missense_Mutation_p.S804R			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1038						integral component of membrane (GO:0016021)											TGATAAAGCAAGTTTAGGTCC	0.318																																																	0													50.0	50.0	50.0					14																	60592386		2202	4299	6501	SO:0001583	missense	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3112A>C	14.37:g.60592386A>C	ENSP00000384801:p.Ser1038Arg		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.S1038R	ENST00000406854.1	37	c.3112		14	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758900	0.69763	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.02	5.02	0.67125	.	0.181870	0.64402	D	0.000020	T	0.63640	0.2528	M	0.76002	2.32	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.70487	0.968;0.969	T	0.67760	-0.5587	10	0.59425	D	0.04	.	14.7363	0.69419	1.0:0.0:0.0:0.0	.	1038;804	Q63HM2;B5MC47	CN135_HUMAN;.	R	804;1038;804;1038;245	ENSP00000317396:S804R;ENSP00000384801:S1038R;ENSP00000385201:S804R;ENSP00000385713:S1038R;ENSP00000445644:S245R	ENSP00000317396:S804R	S	+	1	0	C14orf135	59662139	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.850000	0.75420	1.882000	0.54519	0.455000	0.32223	AGT	PCNXL4	-	pfam_Pecanex	ENSG00000126773		0.318	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	-	0.00	93	0	A	NM_022495		60592386	+1	tier1	-	no_errors	ENST00000404681	ensembl	human	known	74_37	missense	21.05	59	16	SNP	1.000	C
PCP4	5121	genome.wustl.edu	37	21	41270431	41270431	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:41270431G>T	ENST00000328619.5	+	2	225	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	14					central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CAATGGAAAAGACAAGACATC	0.408																																																	0													145.0	133.0	137.0					21																	41270431		2203	4300	6503	SO:0001583	missense	0			X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.40G>T	21.37:g.41270431G>T	ENSP00000329403:p.Asp14Tyr		A6NDJ9|Q6ICS4|Q93059	Missense_Mutation	SNP	NULL	p.D14Y	ENST00000328619.5	37	c.40	CCDS33563.1	21	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625211	0.28889	.	.	ENSG00000183036	ENST00000328619	.	.	.	4.46	4.46	0.54185	.	0.654332	0.13981	N	0.349461	T	0.40297	0.1111	.	.	.	0.33473	D	0.58646	P	0.41041	0.736	B	0.35655	0.207	T	0.59584	-0.7427	8	0.72032	D	0.01	-3.6781	13.3477	0.60584	0.0:0.0:1.0:0.0	.	14	P48539	PCP4_HUMAN	Y	14	.	ENSP00000329403:D14Y	D	+	1	0	PCP4	40192301	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.839000	0.62810	2.397000	0.81536	0.650000	0.86243	GAC	PCP4	-	NULL	ENSG00000183036		0.408	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCP4	HGNC	protein_coding	OTTHUMT00000195025.1		0.00	35	0	G	NM_006198		41270431	+1			no_errors	ENST00000328619	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
PI4KA	5297	genome.wustl.edu	37	22	21064216	21064216	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr22:21064216G>T	ENST00000572273.1	-	53	6209	c.5979C>A	c.(5977-5979)ggC>ggA	p.G1993G	PI4KA_ENST00000255882.6_Silent_p.G2051G|PI4KA_ENST00000414196.3_Silent_p.G803G			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1993	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGATTGTCTGGCCGCGAAAAC	0.582																																					GBM(136;1332 1831 3115 23601 50806)												0													89.0	72.0	78.0					22																	21064216		2203	4300	6503	SO:0001819	synonymous_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5979C>A	22.37:g.21064216G>T			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G2051	ENST00000572273.1	37	c.6153		22																																																																																			PI4KA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000241973		0.582	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding			0.00	59	0	G	NM_058004		21064216	-1			no_errors	ENST00000255882	ensembl	human	known	74_37	silent	6.58	71	5	SNP	0.990	T
PIGR	5284	genome.wustl.edu	37	1	207112692	207112692	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:207112692A>G	ENST00000356495.4	-	3	343	c.160T>C	c.(160-162)Tac>Cac	p.Y54H		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	54	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGGCACCAGTACTTCCGGGTG	0.562																																																	0													77.0	74.0	75.0					1																	207112692		2203	4300	6503	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.160T>C	1.37:g.207112692A>G	ENSP00000348888:p.Tyr54His		Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Y54H	ENST00000356495.4	37	c.160	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476443	0.84640	.	.	ENSG00000162896	ENST00000356495	T	0.67345	-0.26	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.196246	0.36519	N	0.002549	T	0.80879	0.4708	M	0.76433	2.335	0.36968	D	0.893674	D	0.89917	1.0	D	0.85130	0.997	D	0.85861	0.1410	10	0.87932	D	0	-27.1807	13.5454	0.61699	1.0:0.0:0.0:0.0	.	54	P01833	PIGR_HUMAN	H	54	ENSP00000348888:Y54H	ENSP00000348888:Y54H	Y	-	1	0	PIGR	205179315	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.514000	0.67043	2.196000	0.70406	0.533000	0.62120	TAC	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000162896		0.562	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	-	0.00	61	0	A	NM_002644		207112692	-1	tier1	-	no_errors	ENST00000356495	ensembl	human	known	74_37	missense	19.72	57	14	SNP	1.000	G
PIP5KL1	138429	genome.wustl.edu	37	9	130687414	130687414	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:130687414C>T	ENST00000388747.4	-	9	933	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.G94S|PIP5KL1_ENST00000490773.1_Intron	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	297	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						AGGCTGCTGCCCGGGCCCCTC	0.602																																																	0													73.0	77.0	76.0					9																	130687414		2203	4300	6503	SO:0001583	missense	0			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.889G>A	9.37:g.130687414C>T	ENSP00000373399:p.Gly297Ser		Q8IVS3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.G94S	ENST00000388747.4	37	c.280	CCDS48030.1	9	.	.	.	.	.	.	.	.	.	.	C	5.384	0.256061	0.10185	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.34072	1.38;1.38	4.83	1.91	0.25777	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.797250	0.11661	N	0.541812	T	0.12646	0.0307	N	0.02412	-0.56	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.33420	-0.9869	10	0.08179	T	0.78	-5.8579	7.0862	0.25259	0.0:0.6099:0.0:0.3901	.	297	Q5T9C9	PI5L1_HUMAN	S	297;94	ENSP00000373399:G297S;ENSP00000300432:G94S	ENSP00000300432:G94S	G	-	1	0	PIP5KL1	129727235	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	0.213000	0.17521	0.550000	0.28991	0.491000	0.48974	GGC	PIP5KL1	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000167103		0.602	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	-	0.00	51	0	C	NM_173492		130687414	-1	tier1	-	no_errors	ENST00000300432	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.024	T
PITPNM3	83394	genome.wustl.edu	37	17	6381945	6381945	+	Silent	SNP	G	G	T	rs149964592	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:6381945G>T	ENST00000262483.8	-	7	786	c.699C>A	c.(697-699)gtC>gtA	p.V233V	PITPNM3_ENST00000421306.3_Silent_p.V197V	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	233					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGACGGTGGCGACAGCATCCT	0.627																																																	0													76.0	63.0	68.0					17																	6381945		2203	4300	6503	SO:0001819	synonymous_variant	0			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.699C>A	17.37:g.6381945G>T			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.V233	ENST00000262483.8	37	c.699	CCDS11076.1	17																																																																																			PITPNM3	-	NULL	ENSG00000091622		0.627	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2		0.00	53	0	G	NM_031220		6381945	-1			no_errors	ENST00000262483	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.201	T
PKHD1L1	93035	genome.wustl.edu	37	8	110453578	110453578	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:110453578T>C	ENST00000378402.5	+	34	4278	c.4174T>C	c.(4174-4176)Ttc>Ctc	p.F1392L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1392	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGGAATATATTCAGGATTAC	0.299										HNSCC(38;0.096)																																							0													43.0	43.0	43.0					8																	110453578		1817	4059	5876	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4174T>C	8.37:g.110453578T>C	ENSP00000367655:p.Phe1392Leu		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.F1392L	ENST00000378402.5	37	c.4174	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518840	0.64634	.	.	ENSG00000205038	ENST00000378402	D	0.85013	-1.93	5.38	5.38	0.77491	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.160667	0.43260	D	0.000582	T	0.77418	0.4127	L	0.39397	1.21	0.25898	N	0.983394	P	0.35527	0.507	B	0.33254	0.16	T	0.66168	-0.5991	10	0.13853	T	0.58	.	13.6355	0.62221	0.0:0.0:0.0:1.0	.	1392	Q86WI1	PKHL1_HUMAN	L	1392	ENSP00000367655:F1392L	ENSP00000367655:F1392L	F	+	1	0	PKHD1L1	110522754	0.994000	0.37717	0.928000	0.36995	0.736000	0.42039	4.261000	0.58841	2.159000	0.67721	0.528000	0.53228	TTC	PKHD1L1	-	superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.299	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0.00	64	0	T	NM_177531		110453578	+1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	19.12	55	13	SNP	0.987	C
PLA2G15	23659	genome.wustl.edu	37	16	68289777	68289777	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:68289777C>T	ENST00000219345.5	+	5	694	c.611C>T	c.(610-612)aCg>aTg	p.T204M	PLA2G15_ENST00000444212.2_Intron|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_Intron|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	204					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AACATGTACACGCTCTACTTT	0.637																																																	0													41.0	44.0	43.0					16																	68289777		2198	4300	6498	SO:0001583	missense	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.611C>T	16.37:g.68289777C>T	ENSP00000219345:p.Thr204Met		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.T204M	ENST00000219345.5	37	c.611	CCDS10864.1	16	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791135	0.50102	.	.	ENSG00000103066	ENST00000219345	D	0.95205	-3.64	5.88	1.8	0.24995	.	0.175049	0.64402	N	0.000008	D	0.91294	0.7255	L	0.58354	1.805	0.80722	D	1	B	0.34290	0.447	B	0.35182	0.197	D	0.85208	0.1019	10	0.32370	T	0.25	-36.3033	9.8568	0.41090	0.0:0.7195:0.0:0.2805	.	204	Q8NCC3	PAG15_HUMAN	M	204	ENSP00000219345:T204M	ENSP00000219345:T204M	T	+	2	0	PLA2G15	66847278	0.790000	0.28787	0.972000	0.41901	0.996000	0.88848	1.372000	0.34261	0.117000	0.18138	0.591000	0.81541	ACG	PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.637	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2	-	0.00	61	0	C	NM_012320		68289777	+1	tier1	-	no_errors	ENST00000219345	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.996	T
PLXNA1	5361	genome.wustl.edu	37	3	126749109	126749109	+	Silent	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:126749109C>T	ENST00000393409.2	+	28	5085	c.5085C>T	c.(5083-5085)gaC>gaT	p.D1695D	PLXNA1_ENST00000251772.4_Silent_p.D1672D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1695					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGTTTGTGGACGACCTGTTTG	0.632																																																	0													102.0	96.0	98.0					3																	126749109		2203	4300	6503	SO:0001819	synonymous_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5085C>T	3.37:g.126749109C>T				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.D1695	ENST00000393409.2	37	c.5085	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000114554		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0.00	24	0	C	NM_032242		126749109	+1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.994	T
PLXNA4	91584	genome.wustl.edu	37	7	131895861	131895861	+	Silent	SNP	G	G	T	rs369845177		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:131895861G>T	ENST00000359827.3	-	10	3101	c.2139C>A	c.(2137-2139)ccC>ccA	p.P713P	PLXNA4_ENST00000321063.4_Silent_p.P713P			Q9HCM2	PLXA4_HUMAN	plexin A4	713					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.P713P(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCACCTCCACGGGCACCAGGA	0.617																																																	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)						G		5,4201		0,5,2098	21.0	23.0	23.0		2139	-9.8	0.6	7		23	0,8486		0,0,4243	no	coding-synonymous	PLXNA4	NM_020911.1		0,5,6341	TT,TG,GG		0.0,0.1189,0.0394		713/1895	131895861	5,12687	2103	4243	6346	SO:0001819	synonymous_variant	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2139C>A	7.37:g.131895861G>T			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P713	ENST00000359827.3	37	c.2139	CCDS43646.1	7																																																																																			PLXNA4	-	NULL	ENSG00000221866		0.617	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2		0.00	42	0	G	NM_181775		131895861	-1			no_errors	ENST00000321063	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.005	T
PLXNB1	5364	genome.wustl.edu	37	3	48461561	48461561	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:48461561C>G	ENST00000358536.4	-	11	2403	c.2134G>C	c.(2134-2136)Gag>Cag	p.E712Q	PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E712Q|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	712	Pro-rich.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCCCAGGCTCCACGGGAAGG	0.677																																																	0													11.0	12.0	11.0					3																	48461561		2189	4277	6466	SO:0001583	missense	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2134G>C	3.37:g.48461561C>G	ENSP00000351338:p.Glu712Gln		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E712Q	ENST00000358536.4	37	c.2134	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	8.675	0.903800	0.17760	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.03272	3.99;3.99	4.48	3.61	0.41365	.	1.196700	0.06126	N	0.669659	T	0.02193	0.0068	N	0.08118	0	0.32933	D	0.517428	B	0.33694	0.421	B	0.21917	0.037	T	0.39961	-0.9588	10	0.15066	T	0.55	.	9.7629	0.40543	0.0:0.9032:0.0:0.0968	.	712	O43157	PLXB1_HUMAN	Q	712	ENSP00000296440:E712Q;ENSP00000351338:E712Q	ENSP00000296440:E712Q	E	-	1	0	PLXNB1	48436565	0.000000	0.05858	0.070000	0.20053	0.151000	0.21798	0.664000	0.25068	0.876000	0.35872	0.561000	0.74099	GAG	PLXNB1	-	NULL	ENSG00000164050		0.677	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	-	0.00	65	0	C	NM_002673		48461561	-1	tier1	-	no_errors	ENST00000296440	ensembl	human	known	74_37	missense	8.82	62	6	SNP	0.020	G
PLXNB2	23654	genome.wustl.edu	37	22	50716897	50716897	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr22:50716897G>T	ENST00000449103.1	-	30	4839	c.4699C>A	c.(4699-4701)Ccg>Acg	p.P1567T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1567T			O15031	PLXB2_HUMAN	plexin B2	1567					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTCCTCCGGCTGCTGGGAG	0.682																																																	0													18.0	25.0	22.0					22																	50716897		2158	4240	6398	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4699C>A	22.37:g.50716897G>T	ENSP00000409171:p.Pro1567Thr		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P1567T	ENST00000449103.1	37	c.4699	CCDS43035.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.31|12.31	1.899432|1.899432	0.33535|0.33535	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000399991;ENST00000399964|ENST00000449103;ENST00000359337;ENST00000411680	.|T;T;T	.|0.11277	.|2.79;2.79;2.79	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.084010	.|0.51477	.|D	.|0.000090	T|T	0.07863|0.07863	0.0197|0.0197	N|N	0.10916|0.10916	0.065|0.065	0.37803|0.37803	D|D	0.927778|0.927778	.|P	.|0.42010	.|0.768	.|B	.|0.41988	.|0.372	T|T	0.46303|0.46303	-0.9201|-0.9201	6|10	0.72032|0.17832	D|T	0.01|0.49	.|.	17.9896|17.9896	0.89164|0.89164	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1567	.|O15031	.|PLXB2_HUMAN	D|T	38;198|1567;1567;119	.|ENSP00000409171:P1567T;ENSP00000352288:P1567T;ENSP00000400679:P119T	ENSP00000382845:A198D|ENSP00000352288:P1567T	A|P	-|-	2|1	0|0	PLXNB2|PLXNB2	49059024|49059024	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.981000|0.981000	0.71138|0.71138	3.122000|3.122000	0.50446|0.50446	2.326000|2.326000	0.78906|0.78906	0.561000|0.561000	0.74099|0.74099	GCC|CCG	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0.00	52	0	G	NM_012401		50716897	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.992	T
POM121L12	285877	genome.wustl.edu	37	7	53103888	53103888	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:53103888G>A	ENST00000408890.4	+	1	540	c.524G>A	c.(523-525)cGg>cAg	p.R175Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	175										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCTGCACCCGGGAGACTCTG	0.721																																																	0													19.0	23.0	22.0					7																	53103888		1863	4087	5950	SO:0001583	missense	0				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.524G>A	7.37:g.53103888G>A	ENSP00000386133:p.Arg175Gln		Q8NDI9	Missense_Mutation	SNP	NULL	p.R175Q	ENST00000408890.4	37	c.524	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645545	0.29246	.	.	ENSG00000221900	ENST00000408890	T	0.28069	1.63	2.35	-4.69	0.03299	.	.	.	.	.	T	0.12135	0.0295	N	0.14661	0.345	0.09310	N	1	B	0.33280	0.405	B	0.21360	0.034	T	0.14090	-1.0485	9	0.59425	D	0.04	.	4.756	0.13085	0.2517:0.4714:0.277:0.0	.	175	Q8N7R1	P1L12_HUMAN	Q	175	ENSP00000386133:R175Q	ENSP00000386133:R175Q	R	+	2	0	POM121L12	53071382	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.860000	0.04272	-0.942000	0.03695	-0.280000	0.10049	CGG	POM121L12	-	NULL	ENSG00000221900		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	-	0.00	35	0	G	NM_182595		53103888	+1	tier1	-	no_errors	ENST00000408890	ensembl	human	known	74_37	missense	50.94	26	27	SNP	0.000	A
POM121L4P	266697	genome.wustl.edu	37	22	21044536	21044536	+	RNA	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr22:21044536G>A	ENST00000412250.3	+	0	218									POM121 transmembrane nucleoporin-like 4 pseudogene											breast(2)	2						TCTGCATTTCGGCCCCTGCGG	0.612																																																	0																																												0					22q11.2	2012-03-13	2012-03-13		ENSG00000217261	ENSG00000217261			19326	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 4 pseudogene (rat)"", ""POM121 membrane glycoprotein-like 4 pseudogene"""				Standard	NR_024592		Approved		uc002zsw.2		OTTHUMG00000150756		22.37:g.21044536G>A				RNA	SNP	-	NULL	ENST00000412250.3	37	NULL		22	.	.	.	.	.	.	.	.	.	.	A	4.969	0.179913	0.09443	.	.	ENSG00000217261	ENST00000412250	.	.	.	0.507	-1.01	0.10169	.	.	.	.	.	T	0.40423	0.1116	.	.	.	0.09310	N	1	D	0.76494	0.999	P	0.57009	0.811	T	0.32134	-0.9918	6	0.48119	T	0.1	.	.	.	.	.	73	F5H5H7	.	Q	73	.	ENSP00000443399:R73Q	R	+	2	0	POM121L4P	19374536	0.002000	0.14202	0.002000	0.10522	0.056000	0.15407	-0.944000	0.03913	-1.732000	0.01359	-1.614000	0.00798	CGG	POM121L4P	-	-	ENSG00000217261		0.612	POM121L4P-002	KNOWN	basic|exp_conf	processed_transcript	POM121L4P	HGNC	pseudogene	OTTHUMT00000468456.1	-	0.00	66	0	G			21044536	+1	tier1	-	no_errors	ENST00000412250	ensembl	human	known	74_37	rna	33.33	51	26	SNP	0.003	A
POMC	5443	genome.wustl.edu	37	2	25384468	25384468	+	Missense_Mutation	SNP	C	C	T	rs373689962	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:25384468C>T	ENST00000405623.1	-	3	741	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000395826.2_Missense_Mutation_p.G96S|POMC_ENST00000380794.1_Missense_Mutation_p.G96S|POMC_ENST00000264708.3_Missense_Mutation_p.G96S			P01189	COLI_HUMAN	proopiomelanocortin	96					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	ccgctgctgccgctgctgctg	0.706													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		14465	0.0		0.0	False		,,,				2504	0.0				Colon(110;1515 1566 8452 10082 43216)												0													6.0	5.0	5.0					2																	25384468		1809	3656	5465	SO:0001583	missense	0				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.286G>A	2.37:g.25384468C>T	ENSP00000384092:p.Gly96Ser		P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.G96S	ENST00000405623.1	37	c.286	CCDS1717.1	2	.	.	.	.	.	.	.	.	.	.	T	0.746	-0.774406	0.02951	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	2.4	-1.26	0.09376	.	2.820870	0.03976	N	0.292578	T	0.55955	0.1953	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41378	-0.9512	10	0.32370	T	0.25	.	8.1617	0.31202	0.0:0.6184:0.0:0.3816	.	96	P01189	COLI_HUMAN	S	96	ENSP00000370171:G96S;ENSP00000384092:G96S;ENSP00000264708:G96S;ENSP00000379170:G96S;ENSP00000387993:G96S	ENSP00000264708:G96S	G	-	1	0	POMC	25237972	0.002000	0.14202	0.006000	0.13384	0.010000	0.07245	-2.170000	0.01268	-0.787000	0.04510	-1.611000	0.00801	GGC	POMC	-	NULL	ENSG00000115138		0.706	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	-	0.00	20	0	C	NM_001035256		25384468	-1	tier1	-	no_errors	ENST00000264708	ensembl	human	known	74_37	missense	50.00	9	9	SNP	0.195	T
PPAP2B	8613	genome.wustl.edu	37	1	56978869	56978869	+	Intron	DEL	A	A	-	rs367756101	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:56978869delA	ENST00000371250.3	-	5	1185				PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B						Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATGGAAGATTAAAAAAAAAAC	0.408													|||unknown(HR)	60	0.0119808	0.0363	0.0086	5008	,	,		19616	0.003		0.001	False		,,,				2504	0.002																0																																										SO:0001627	intron_variant	0			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.634-1045T>-	1.37:g.56978869delA			B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	RNA	DEL	-	NULL	ENST00000371250.3	37	NULL	CCDS604.1	1																																																																																			PPAP2B	-	-	ENSG00000162407		0.408	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2		0.00	38	0	A	NM_003713		56978869	-1	tier1		no_errors	ENST00000459962	ensembl	human	putative	74_37	rna	8.70	42	4	DEL	0.000	-
PPP1R9A	55607	genome.wustl.edu	37	7	94540222	94540222	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:94540222T>G	ENST00000433881.1	+	2	1329	c.797T>G	c.(796-798)gTt>gGt	p.V266G	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V266G|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V266G|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.V266G|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V266G|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V266G			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	266					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGCGAGGTGTTGATACAGAG	0.433										HNSCC(28;0.073)																																							0													70.0	60.0	64.0					7																	94540222		2203	4300	6503	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.797T>G	7.37:g.94540222T>G	ENSP00000398870:p.Val266Gly		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.V266G	ENST00000433881.1	37	c.797	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	T	0.067	-1.210829	0.01555	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.75	-0.134	0.13481	.	1.131130	0.06505	N	0.736973	D	0.84056	0.5388	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.20261	0.02;0.043;0.043;0.012;0.001	B;B;B;B;B	0.23852	0.01;0.03;0.049;0.006;0.004	T	0.70490	-0.4857	9	.	.	.	.	7.6673	0.28439	0.1675:0.6284:0.0:0.2041	.	266;266;266;266;266	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	G	266	ENSP00000405514:V266G;ENSP00000344524:V266G;ENSP00000411342:V266G;ENSP00000398870:V266G;ENSP00000289495:V266G;ENSP00000402893:V266G	.	V	+	2	0	PPP1R9A	94378158	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.735000	0.26115	-0.237000	0.09739	-0.361000	0.07541	GTT	PPP1R9A	-	NULL	ENSG00000158528		0.433	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1		0.00	25	0	T	NM_001166160		94540222	+1			no_errors	ENST00000289495	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.001	G
PPP1R9A	55607	genome.wustl.edu	37	7	94898626	94898626	+	Intron	SNP	G	G	T	rs374685907		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:94898626G>T	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000424654.1_Silent_p.P955P|PPP1R9A_ENST00000433360.1_Silent_p.P977P|PPP1R9A_ENST00000289495.5_Silent_p.P937P|PPP1R9A_ENST00000456331.2_Silent_p.P955P|PPP1R9A_ENST00000340694.4_Intron			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.P955P(1)|p.P977P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCTCACCCCGGTGGATAGCA	0.478										HNSCC(28;0.073)																																							2	Substitution - coding silent(2)	breast(2)											68.0	62.0	64.0					7																	94898626		1568	3581	5149	SO:0001627	intron_variant	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2757+607G>T	7.37:g.94898626G>T			A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.P937	ENST00000433881.1	37	c.2811	CCDS34683.1	7																																																																																			PPP1R9A	-	NULL	ENSG00000158528		0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1		0.00	40	0	G	NM_001166160		94898626	+1			no_errors	ENST00000289495	ensembl	human	known	74_37	silent	6.38	43	3	SNP	0.362	T
PROM1	8842	genome.wustl.edu	37	4	16019941	16019941	+	Intron	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:16019941C>T	ENST00000510224.1	-	9	1251				PROM1_ENST00000505450.1_Intron|PROM1_ENST00000540805.1_Intron|PROM1_ENST00000447510.2_Intron|PROM1_ENST00000543373.1_Intron|PROM1_ENST00000539194.1_Intron|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000508167.1_Intron			O43490	PROM1_HUMAN	prominin 1						camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CTCATGCCTGCTCACCTGCCT	0.552																																																	0													68.0	65.0	66.0					4																	16019941		2113	4252	6365	SO:0001627	intron_variant	0			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1002+4G>A	4.37:g.16019941C>T			Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	RNA	SNP	-	NULL	ENST00000510224.1	37	NULL	CCDS47029.1	4																																																																																			PROM1	-	-	ENSG00000007062		0.552	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	-	0.00	27	0	C	NM_006017		16019941	-1	tier1	-	no_errors	ENST00000502943	ensembl	human	known	74_37	rna	50.00	6	6	SNP	0.991	T
PRPF40A	55660	genome.wustl.edu	37	2	153520410	153520412	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:153520410_153520412delTCT	ENST00000410080.1	-	18	2490_2492	c.1949_1951delAGA	c.(1948-1953)aagata>ata	p.K650del		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	677	FF 4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCTTTTATTATCTTCTTCTCGTC	0.271																																																	0																																										SO:0001651	inframe_deletion	0			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1949_1951delAGA	2.37:g.153520416_153520418delTCT	ENSP00000386458:p.Lys650del		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	In_Frame_Del	DEL	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1	p.K650in_frame_del	ENST00000410080.1	37	c.1951_1949	CCDS46430.1	2																																																																																			PRPF40A	-	NULL	ENSG00000196504		0.271	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2		0.00	58	0	TCT	XM_371575		153520412	-1	tier1		no_errors	ENST00000410080	ensembl	human	known	74_37	in_frame_del	26.32	28	10	DEL	1.000:1.000:1.000	-
PWP2	5822	genome.wustl.edu	37	21	45537717	45537717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr21:45537717G>T	ENST00000291576.7	+	8	980	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	285					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTTCAATAAAGAAGGGGATTT	0.502																																																	0													143.0	137.0	139.0					21																	45537717		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.853G>T	21.37:g.45537717G>T	ENSP00000291576:p.Glu285*		B2RAG8|Q96A77	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E285*	ENST00000291576.7	37	c.853	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527541	0.64860	.	.	ENSG00000241945	ENST00000291576	.	.	.	4.53	4.53	0.55603	.	0.219310	0.46758	D	0.000271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.1827	18.1275	0.89590	0.0:0.0:1.0:0.0	.	.	.	.	X	285	.	ENSP00000291576:E285X	E	+	1	0	PWP2	44362145	1.000000	0.71417	0.998000	0.56505	0.026000	0.11368	9.390000	0.97246	2.448000	0.82819	0.561000	0.74099	GAA	PWP2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000241945		0.502	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3		0.00	52	0	G	NM_005049		45537717	+1			no_errors	ENST00000291576	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	T
RADIL	55698	genome.wustl.edu	37	7	4874715	4874715	+	Silent	SNP	C	C	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:4874715C>A	ENST00000399583.3	-	4	1126	c.939G>T	c.(937-939)ggG>ggT	p.G313G	RADIL_ENST00000538469.1_Silent_p.G73G|RADIL_ENST00000536091.1_Silent_p.G313G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	313					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)		GGACCAGCCTCCCCGCGGCCT	0.701																																																	0													10.0	14.0	13.0					7																	4874715		1963	4136	6099	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.939G>T	7.37:g.4874715C>A			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Nonsense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.E312*	ENST00000399583.3	37	c.934	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	-	15.71	2.912860	0.52439	.	.	ENSG00000157927	ENST00000544486	.	.	.	4.3	-7.11	0.01542	.	2.003860	0.02074	N	0.051819	T	0.19525	0.0469	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09596	-1.0667	6	0.26408	T	0.33	6.0E-4	4.1769	0.10356	0.0878:0.4878:0.1485:0.2758	.	.	.	.	V	48	.	ENSP00000437686:G48V	G	-	2	0	RADIL	4841241	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.020000	0.13466	-1.200000	0.02662	-1.004000	0.02495	GGA	RADIL	-	NULL	ENSG00000157927		0.701	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	-	0.00	75	0	C	NM_018059		4874715	-1	tier1	-	no_errors	ENST00000445392	ensembl	human	known	74_37	nonsense	23.00	77	23	SNP	0.000	A
RAPH1	65059	genome.wustl.edu	37	2	204360004	204360004	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:204360004C>T	ENST00000319170.5	-	2	372	c.73G>A	c.(73-75)Gac>Aac	p.D25N	RAPH1_ENST00000423104.1_Missense_Mutation_p.D25N|RAPH1_ENST00000308091.4_Missense_Mutation_p.D25N|RAPH1_ENST00000374488.2_Missense_Mutation_p.D25N|RAPH1_ENST00000453034.1_Missense_Mutation_p.D25N|RAPH1_ENST00000439222.1_Missense_Mutation_p.D25N|RAPH1_ENST00000457812.1_Missense_Mutation_p.D25N|RAPH1_ENST00000374493.3_Missense_Mutation_p.D25N|RAPH1_ENST00000419464.1_Missense_Mutation_p.D25N|RAPH1_ENST00000418114.1_Missense_Mutation_p.D25N|RAPH1_ENST00000374489.2_Missense_Mutation_p.D25N	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	25					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACATTTTGTCCAGGTCCTGA	0.413																																																	0													189.0	174.0	179.0					2																	204360004		2203	4300	6503	SO:0001583	missense	0			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.73G>A	2.37:g.204360004C>T	ENSP00000316543:p.Asp25Asn		Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.D25N	ENST00000319170.5	37	c.73	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702956	0.88924	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637;ENST00000420371	T;T;T;T;T;T;T;T;T;T;T	0.64991	-0.03;0.04;0.02;-0.13;-0.09;0.0;-0.09;-0.04;-0.13;0.0;-0.04	5.79	5.79	0.91817	.	0.000000	0.53938	D	0.000045	T	0.79516	0.4459	M	0.69358	2.11	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.999;0.989;0.996	T	0.80139	-0.1507	10	0.87932	D	0	-20.2952	20.0205	0.97499	0.0:1.0:0.0:0.0	.	25;25;25	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	N	25	ENSP00000392854:D25N;ENSP00000316543:D25N;ENSP00000363617:D25N;ENSP00000363613:D25N;ENSP00000363612:D25N;ENSP00000311293:D25N;ENSP00000411138:D25N;ENSP00000390578:D25N;ENSP00000397751:D25N;ENSP00000406662:D25N;ENSP00000396711:D25N	ENSP00000311293:D25N	D	-	1	0	RAPH1	204068249	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.487000	0.81328	2.740000	0.93945	0.561000	0.74099	GAC	RAPH1	-	NULL	ENSG00000173166		0.413	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	-	0.00	68	0	C	NM_025252		204360004	-1	tier1	-	no_errors	ENST00000374493	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
RBM27	54439	genome.wustl.edu	37	5	145641103	145641103	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:145641103C>A	ENST00000265271.5	+	13	2090	c.1924C>A	c.(1924-1926)Cta>Ata	p.L642I	RBM27_ENST00000506502.1_Missense_Mutation_p.L587I	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	642	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGCAGCCCTAATCCAATA	0.378																																																	0													106.0	96.0	99.0					5																	145641103		1568	3582	5150	SO:0001583	missense	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1924C>A	5.37:g.145641103C>A	ENSP00000265271:p.Leu642Ile		Q8IYW9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.L642I	ENST00000265271.5	37	c.1924	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563931	0.65651	.	.	ENSG00000091009	ENST00000265271	T	0.56103	0.48	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	D	0.000004	T	0.69160	0.3080	L	0.53249	1.67	0.58432	D	0.999993	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	T	0.65302	-0.6201	10	0.35671	T	0.21	-7.0717	19.3994	0.94621	0.0:1.0:0.0:0.0	.	642;587	Q9P2N5;B3KY61	RBM27_HUMAN;.	I	642	ENSP00000265271:L642I	ENSP00000265271:L642I	L	+	1	2	RBM27	145621296	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	3.344000	0.52174	2.593000	0.87608	0.561000	0.74099	CTA	RBM27	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000091009		0.378	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0.00	69	0	C	XM_291128		145641103	+1	tier1	-	no_errors	ENST00000265271	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	A
RFX3	5991	genome.wustl.edu	37	9	3330319	3330319	+	Silent	SNP	G	G	T	rs540836639		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:3330319G>T	ENST00000382004.3	-	5	725	c.414C>A	c.(412-414)ggC>ggA	p.G138G	RFX3_ENST00000358730.2_Silent_p.G138G|RFX3_ENST00000302303.1_Silent_p.G138G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	138					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CCATTGAGTTGCCGATCAGAT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		16511	0.001		0.0	False		,,,				2504	0.0																0													114.0	93.0	100.0					9																	3330319		2203	4300	6503	SO:0001819	synonymous_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.414C>A	9.37:g.3330319G>T			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.G138	ENST00000382004.3	37	c.414	CCDS6449.1	9																																																																																			RFX3	-	pfam_RFX1_trans_act	ENSG00000080298		0.488	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	-	0.00	73	0	G	NM_002919		3330319	-1	tier1	-	no_errors	ENST00000382004	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T
RGS7	6000	genome.wustl.edu	37	1	240978038	240978038	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:240978038T>C	ENST00000407727.1	-	11	822	c.823A>G	c.(823-825)Aaa>Gaa	p.K275E	RGS7_ENST00000348120.2_Missense_Mutation_p.K222E|RGS7_ENST00000366563.1_Missense_Mutation_p.K275E|RGS7_ENST00000366562.4_Missense_Mutation_p.K275E|RGS7_ENST00000331110.7_Missense_Mutation_p.K249E|RGS7_ENST00000401882.1_Missense_Mutation_p.K222E|RGS7_ENST00000446183.2_Missense_Mutation_p.K191E|RGS7_ENST00000366565.1_Missense_Mutation_p.K275E|RGS7_ENST00000366564.1_Missense_Mutation_p.K275E			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	275	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTGACATTTTTAACCGATGT	0.299																																																	0													110.0	113.0	111.0					1																	240978038		2203	4298	6501	SO:0001583	missense	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.823A>G	1.37:g.240978038T>C	ENSP00000384428:p.Lys275Glu		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.K275E	ENST00000407727.1	37	c.823		1	.	.	.	.	.	.	.	.	.	.	T	31	5.103416	0.94245	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	6.06	6.06	0.98353	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.997;0.995;0.997;0.996;0.994;1.0;0.995	D;D;D;D;P;D;D	0.78314	0.989;0.91;0.937;0.976;0.889;0.991;0.932	T	0.69873	-0.5027	10	0.87932	D	0	-7.7669	15.7905	0.78357	0.0:0.0:0.0:1.0	.	191;249;222;275;275;275;275	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	E	249;275;275;275;106;222;191;275;275;222	ENSP00000331485:K249E;ENSP00000355523:K275E;ENSP00000355522:K275E;ENSP00000355521:K275E;ENSP00000404399:K106E;ENSP00000341242:K222E;ENSP00000390138:K191E;ENSP00000355520:K275E;ENSP00000384428:K275E;ENSP00000385508:K222E	ENSP00000331485:K249E	K	-	1	0	RGS7	239044661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	AAA	RGS7	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom	ENSG00000182901		0.299	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		-	0.00	61	0	T	NM_002924		240978038	-1	tier1	-	no_errors	ENST00000407727	ensembl	human	known	74_37	missense	21.13	56	15	SNP	1.000	C
RHOJ	57381	genome.wustl.edu	37	14	63757678	63757678	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:63757678T>G	ENST00000316754.3	+	5	1043	c.581T>G	c.(580-582)aTt>aGt	p.I194S		NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	194					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ATCCTCACCATTTTCCACCCC	0.473																																																	0													129.0	125.0	126.0					14																	63757678		2203	4300	6503	SO:0001583	missense	0			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.581T>G	14.37:g.63757678T>G	ENSP00000316729:p.Ile194Ser		Q96KC1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I194S	ENST00000316754.3	37	c.581	CCDS9757.1	14	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745269	0.89663	.	.	ENSG00000126785	ENST00000316754	T	0.79454	-1.27	5.73	5.73	0.89815	.	0.843286	0.10683	N	0.646211	T	0.82245	0.4995	L	0.41824	1.3	0.80722	D	1	P	0.39424	0.673	P	0.51615	0.675	T	0.79398	-0.1820	10	0.87932	D	0	.	16.0209	0.80493	0.0:0.0:0.0:1.0	.	194	Q9H4E5	RHOJ_HUMAN	S	194	ENSP00000316729:I194S	ENSP00000316729:I194S	I	+	2	0	RHOJ	62827431	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.005000	0.88553	2.186000	0.69663	0.459000	0.35465	ATT	RHOJ	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase	ENSG00000126785		0.473	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOJ	HGNC	protein_coding	OTTHUMT00000276975.3	-	0.00	59	0	T			63757678	+1	tier1	-	no_errors	ENST00000316754	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	G
RIMS1	22999	genome.wustl.edu	37	6	73108016	73108016	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:73108016A>C	ENST00000521978.1	+	32	4684	c.4684A>C	c.(4684-4686)Agc>Cgc	p.S1562R	RIMS1_ENST00000401910.3_Missense_Mutation_p.S882R|RIMS1_ENST00000523963.1_Missense_Mutation_p.S687R|RIMS1_ENST00000414192.2_Missense_Mutation_p.S89R|RIMS1_ENST00000425662.2_Missense_Mutation_p.S630R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517960.1_Missense_Mutation_p.S1345R|RIMS1_ENST00000538414.1_Missense_Mutation_p.S368R|RIMS1_ENST00000522291.1_Missense_Mutation_p.S1161R|RIMS1_ENST00000348717.5_Missense_Mutation_p.S1345R|RIMS1_ENST00000520567.1_Missense_Mutation_p.S1212R|RIMS1_ENST00000518273.1_Missense_Mutation_p.S1241R|RIMS1_ENST00000264839.7_Missense_Mutation_p.S1411R|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517827.1_Missense_Mutation_p.S696R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1562	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGAGCACGAAGCCTCACACA	0.393																																																	0													75.0	73.0	74.0					6																	73108016		1866	4107	5973	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4684A>C	6.37:g.73108016A>C	ENSP00000428417:p.Ser1562Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S1562R	ENST00000521978.1	37	c.4684	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	25.5|25.5|25.5	4.647805|4.647805|4.647805	0.87958|0.87958|0.87958	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433|ENST00000350827;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192	.|.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.76709	.|.|-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;0.96;-1.04;-1.04;-1.04;-1.04	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|.|0.089966	.|.|0.50627	.|.|D	.|.|0.000117	T|T|T	0.71846|0.71846|0.71846	0.3388|0.3388|0.3388	L|L|L	0.38175|0.38175|0.38175	1.15|1.15|1.15	0.37091|0.37091|0.37091	D|D|D	0.899426|0.899426|0.899426	.|.|B;B;B;D;P;P;B;P;D;B;P;P	.|.|0.55800	.|.|0.097;0.045;0.17;0.97;0.828;0.493;0.025;0.849;0.973;0.025;0.653;0.828	.|.|B;B;P;P;P;P;B;P;P;B;P;P	.|.|0.61940	.|.|0.286;0.286;0.676;0.825;0.752;0.676;0.164;0.687;0.896;0.228;0.648;0.547	T|T|T	0.78620|0.78620|0.78620	-0.2133|-0.2133|-0.2133	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-22.9153|-22.9153|-22.9153	6.0204|6.0204|6.0204	0.19626|0.19626|0.19626	0.798:0.0:0.202:0.0|0.798:0.0:0.202:0.0|0.798:0.0:0.202:0.0	.|.|.	.|.|186;368;696;687;1411;882;1161;465;1241;1345;638;1562	.|.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;Q86UR5	.|.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	D|T|R	479|907|1411;1345;1241;1161;1411;1345;1241;1212;1161;1562;882;687;630;727;696;610;368;89	.|.|ENSP00000275037:S1345R;ENSP00000264839:S1411R;ENSP00000429959:S1345R;ENSP00000430408:S1241R;ENSP00000430502:S1212R;ENSP00000430932:S1161R;ENSP00000428417:S1562R;ENSP00000385649:S882R;ENSP00000428328:S687R;ENSP00000411235:S630R;ENSP00000389503:S727R;ENSP00000428367:S696R;ENSP00000359448:S610R;ENSP00000439730:S368R;ENSP00000402273:S89R	.|.|ENSP00000264839:S1411R	E|K|S	+|+|+	3|2|1	2|0|0	RIMS1|RIMS1|RIMS1	73164737|73164737|73164737	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.976000|0.976000|0.976000	0.68499|0.68499|0.68499	7.617000|7.617000|7.617000	0.83032|0.83032|0.83032	2.145000|2.145000|2.145000	0.66743|0.66743|0.66743	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	GAA|AAG|AGC	RIMS1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000079841		0.393	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	64	0	A			73108016	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	54.35	21	25	SNP	1.000	C
RIMS2	9699	genome.wustl.edu	37	8	104932954	104932954	+	Intron	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:104932954A>G	ENST00000436393.2	+	8	1658				RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			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)			gtggtggctcacgcgtgtaat	0.522										HNSCC(12;0.0054)																																							0																																										SO:0001627	intron_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.1418-946A>G	8.37:g.104932954A>G			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	RNA	SNP	-	NULL	ENST00000436393.2	37	NULL		8	.	.	.	.	.	.	.	.	.	.	A	3.053	-0.194945	0.06259	.	.	ENSG00000176406	ENST00000378492	.	.	.	0.564	0.564	0.17302	.	.	.	.	.	T	0.30198	0.0757	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26849	-1.0091	4	0.26408	T	0.33	.	.	.	.	.	.	.	.	A	95	.	ENSP00000367753:T95A	T	+	1	0	RIMS2	105002130	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-0.119000	0.10676	0.485000	0.27652	0.164000	0.16699	ACG	RIMS2	-	-	ENSG00000176406		0.522	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0.00	23	0	A	NM_001100117		104932954	+1	tier1	-	no_errors	ENST00000501515	ensembl	human	known	74_37	rna	31.25	11	5	SNP	0.002	G
RIN3	79890	genome.wustl.edu	37	14	93154538	93154540	+	In_Frame_Del	DEL	GGC	GGC	-	rs71461983|rs570458246|rs68153141|rs71698059	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:93154538_93154540delGGC	ENST00000216487.7	+	10	3058_3060	c.2899_2901delGGC	c.(2899-2901)ggcdel	p.G972del	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	972	Poly-Gly.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGACGGTGGTGGCGGCGGCGGCG	0.739																																																	0										2780,766		1192,396,185							0.4		dbSNP_130	12	4625,2291		1742,1141,575	no	coding	RIN3	NM_024832.3		2934,1537,760	A1A1,A1R,RR		33.1261,21.6018,29.22				7405,3057				SO:0001651	inframe_deletion	0			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2899_2901delGGC	14.37:g.93154547_93154549delGGC	ENSP00000216487:p.Gly972del		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	In_Frame_Del	DEL	pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.G970in_frame_del	ENST00000216487.7	37	c.2899_2901	CCDS32144.1	14																																																																																			RIN3	-	NULL	ENSG00000100599		0.739	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	HGNC	protein_coding	OTTHUMT00000412269.1		0.00	12	0	GGC			93154540	+1	tier1		no_errors	ENST00000216487	ensembl	human	known	74_37	in_frame_del	38.46	8	5	DEL	0.984:0.981:0.979	-
RNF152	220441	genome.wustl.edu	37	18	59483338	59483338	+	Missense_Mutation	SNP	C	C	T	rs377278409		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:59483338C>T	ENST00000312828.3	-	2	1458	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	120					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GGGCAGCAGGCGGCAGCCCAT	0.657																																																	0								C	HIS/ARG	0,4406		0,0,2203	52.0	58.0	56.0		359	5.0	1.0	18		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF152	NM_173557.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	120/204	59483338	1,13005	2203	4300	6503	SO:0001583	missense	0			AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.359G>A	18.37:g.59483338C>T	ENSP00000316628:p.Arg120His		B3KV99|Q52LA4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R120H	ENST00000312828.3	37	c.359	CCDS11978.1	18	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905489	0.52333	0.0	1.16E-4	ENSG00000176641	ENST00000312828	D	0.84370	-1.84	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	N	0.17082	0.46	0.58432	D	0.999997	B	0.15141	0.012	B	0.08055	0.003	T	0.69359	-0.5166	10	0.25751	T	0.34	-12.2411	18.4187	0.90579	0.0:1.0:0.0:0.0	.	120	Q8N8N0	RN152_HUMAN	H	120	ENSP00000316628:R120H	ENSP00000316628:R120H	R	-	2	0	RNF152	57634318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.139000	0.58024	2.600000	0.87896	0.655000	0.94253	CGC	RNF152	-	NULL	ENSG00000176641		0.657	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF152	HGNC	protein_coding	OTTHUMT00000256180.1		0.00	48	0	C	NM_173557		59483338	-1			no_errors	ENST00000312828	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
RNF219	79596	genome.wustl.edu	37	13	79219014	79219014	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr13:79219014G>C	ENST00000282003.6	-	2	249	c.191C>G	c.(190-192)cCt>cGt	p.P64R		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	64							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTCTTTGCAAGGATTTTCAGG	0.358																																																	0													113.0	114.0	114.0					13																	79219014		2203	4300	6503	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.191C>G	13.37:g.79219014G>C	ENSP00000282003:p.Pro64Arg		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.P64R	ENST00000282003.6	37	c.191	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365173	0.82463	.	.	ENSG00000152193	ENST00000282003	T	0.17370	2.28	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06607	-1.0817	10	0.56958	D	0.05	-0.6617	19.0488	0.93034	0.0:0.0:1.0:0.0	.	64	Q5W0B1	RN219_HUMAN	R	64	ENSP00000282003:P64R	ENSP00000282003:P64R	P	-	2	0	RNF219	78117015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.230000	0.95299	2.489000	0.83994	0.655000	0.94253	CCT	RNF219	-	NULL	ENSG00000152193		0.358	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1		0.00	57	0	G	NM_024546		79219014	-1			no_errors	ENST00000282003	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	C
RNPC3	55599	genome.wustl.edu	37	1	104076467	104076467	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:104076467delA	ENST00000533099.1	+	4	583	c.347delA	c.(346-348)gaafs	p.E116fs	RNPC3_ENST00000423855.2_Frame_Shift_Del_p.E116fs|RNPC3_ENST00000524631.1_Frame_Shift_Del_p.E116fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	116	Necessary for interaction with PDCD7.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TCAGGCTCTGAAAAAAAAAAA	0.318																																																	0										85,435,1262		6,1,72,18,398,396	50.0	39.0	43.0			4.6	0.6	1		49	197,914,2651		20,3,154,16,879,809	no	codingComplex	RNPC3	NM_017619.3		26,4,226,34,1277,1205	A1A1,A1A2,A1R,A2A2,A2R,RR		29.5322,29.1807,29.4192			104076467	282,1349,3913	692	1590	2282	SO:0001589	frameshift_variant	0			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.347delA	1.37:g.104076467delA	ENSP00000432886:p.Glu116fs		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K119fs	ENST00000533099.1	37	c.347	CCDS781.1	1																																																																																			RNPC3	-	NULL	ENSG00000185946		0.318	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1		0.00	33	0	A	NM_017619		104076467	+1	tier1		no_errors	ENST00000423855	ensembl	human	known	74_37	frame_shift_del	13.51	32	5	DEL	0.784	-
S100P	6286	genome.wustl.edu	37	4	6695679	6695679	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:6695679C>A	ENST00000296370.3	+	1	884	c.20C>A	c.(19-21)gCc>gAc	p.A7D	S100P_ENST00000513778.1_Intron|AC093323.1_ENST00000596858.1_5'Flank	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	7					endothelial cell migration (GO:0043542)|response to organic substance (GO:0010033)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|magnesium ion binding (GO:0000287)			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicic acid(DB01003)	CTAGAGACAGCCATGGGCATG	0.577																																																	0													73.0	64.0	67.0					4																	6695679		2203	4300	6503	SO:0001583	missense	0			X65614	CCDS3391.1	4p16	2013-01-10	2001-11-28		ENSG00000163993	ENSG00000163993		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10504	protein-coding gene	gene with protein product		600614	"""S100 calcium-binding protein P"""			8341667, 7759097	Standard	NM_005980		Approved		uc003gjl.3	P25815	OTTHUMG00000090491	ENST00000296370.3:c.20C>A	4.37:g.6695679C>A	ENSP00000296370:p.Ala7Asp		Q5J7W2	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A7D	ENST00000296370.3	37	c.20	CCDS3391.1	4	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017276	0.54576	.	.	ENSG00000163993	ENST00000296370	T	0.15139	2.45	4.23	4.23	0.50019	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.000000	0.53938	D	0.000057	T	0.40645	0.1125	.	.	.	0.46542	D	0.999091	D	0.76494	0.999	D	0.72338	0.977	T	0.32052	-0.9921	9	0.54805	T	0.06	.	14.1049	0.65083	0.0:1.0:0.0:0.0	.	7	P25815	S100P_HUMAN	D	7	ENSP00000296370:A7D	ENSP00000296370:A7D	A	+	2	0	S100P	6746580	1.000000	0.71417	0.381000	0.26106	0.038000	0.13279	2.310000	0.43708	2.202000	0.70862	0.650000	0.86243	GCC	S100P	-	pfam_S100_Ca-bd_sub	ENSG00000163993		0.577	S100P-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100P	HGNC	protein_coding	OTTHUMT00000206979.1		0.00	52	0	C	NM_005980		6695679	+1			no_errors	ENST00000296370	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A
SBNO2	22904	genome.wustl.edu	37	19	1122178	1122178	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:1122178C>T	ENST00000361757.3	-	11	1346	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	SBNO2_ENST00000438103.2_Missense_Mutation_p.R313Q|SBNO2_ENST00000587024.1_Missense_Mutation_p.R370Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	370					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGATCTGCCGGAGGCGAGT	0.662																																																	0													19.0	23.0	21.0					19																	1122178		2142	4226	6368	SO:0001583	missense	0			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1109G>A	19.37:g.1122178C>T	ENSP00000354733:p.Arg370Gln		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R370Q	ENST00000361757.3	37	c.1109	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266806	0.59540	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.5	2.46	0.29980	.	0.185709	0.44097	N	0.000497	T	0.37839	0.1018	N	0.20445	0.575	0.37650	D	0.92237	D;B;D;D	0.63880	0.993;0.024;0.984;0.981	P;B;P;P	0.52957	0.71;0.019;0.714;0.505	T	0.38564	-0.9655	9	0.59425	D	0.04	-22.5276	4.9885	0.14202	0.0:0.6204:0.0:0.3796	.	313;370;370;313	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	Q	370;313;394	.	ENSP00000250872:R394Q	R	-	2	0	SBNO2	1073178	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	3.045000	0.49838	0.793000	0.33875	0.561000	0.74099	CGG	SBNO2	-	superfamily_P-loop_NTPase	ENSG00000064932		0.662	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	-	0.00	49	0	C	NM_014963		1122178	-1	tier1	-	no_errors	ENST00000361757	ensembl	human	known	74_37	missense	71.70	15	38	SNP	1.000	T
SCAP	22937	genome.wustl.edu	37	3	47476506	47476506	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:47476506G>T	ENST00000265565.5	-	3	656	c.244C>A	c.(244-246)Cct>Act	p.P82T	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	82					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ACCCACTCAGGCTGCTCAGTA	0.587																																					Pancreas(149;978 1908 29304 37806 46700)												0													97.0	94.0	95.0					3																	47476506		2203	4300	6503	SO:0001583	missense	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.244C>A	3.37:g.47476506G>T	ENSP00000265565:p.Pro82Thr		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P82T	ENST00000265565.5	37	c.244	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803879	0.70682	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603;ENST00000448217	D	0.82619	-1.63	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	L	0.60455	1.87	0.80722	D	1	P	0.46621	0.881	P	0.44359	0.447	T	0.78084	-0.2342	10	0.07325	T	0.83	-18.5159	18.3633	0.90382	0.0:0.0:1.0:0.0	.	82	Q12770	SCAP_HUMAN	T	82	ENSP00000265565:P82T	ENSP00000265565:P82T	P	-	1	0	SCAP	47451510	1.000000	0.71417	0.997000	0.53966	0.295000	0.27426	8.778000	0.91785	2.672000	0.90937	0.462000	0.41574	CCT	SCAP	-	NULL	ENSG00000114650		0.587	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0.00	48	0	G	NM_012235		47476506	-1	tier1	-	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
SCN1A	6323	genome.wustl.edu	37	2	166901723	166901723	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:166901723T>C	ENST00000303395.4	-	10	1491	c.1492A>G	c.(1492-1494)Aga>Gga	p.R498G	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R498G|SCN1A_ENST00000409050.1_Missense_Mutation_p.R498G|SCN1A_ENST00000423058.2_Missense_Mutation_p.R498G			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	498					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCGATTTCTTCTTTCCTTA	0.468																																																	0													198.0	204.0	202.0					2																	166901723		2203	4300	6503	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1492A>G	2.37:g.166901723T>C	ENSP00000303540:p.Arg498Gly		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.R498G	ENST00000303395.4	37	c.1492	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688200	0.68271	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	6.17	2.4	0.29515	Domain of unknown function DUF3451 (1);	0.072092	0.64402	D	0.000017	D	0.94618	0.8265	M	0.91406	3.205	0.45139	D	0.998153	P;P;P	0.43826	0.557;0.818;0.818	B;P;P	0.47864	0.234;0.559;0.559	D	0.93856	0.7149	10	0.66056	D	0.02	.	13.7464	0.62879	0.0:0.0:0.3768:0.6232	.	498;498;498	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	G	498	ENSP00000407030:R498G;ENSP00000303540:R498G;ENSP00000364554:R498G;ENSP00000386312:R498G	ENSP00000303540:R498G	R	-	1	2	SCN1A	166609969	0.998000	0.40836	0.997000	0.53966	0.998000	0.95712	1.878000	0.39608	0.171000	0.19730	0.533000	0.62120	AGA	SCN1A	-	pfam_DUF3451	ENSG00000144285		0.468	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0.00	44	0	T	NM_006920		166901723	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	42.31	30	22	SNP	1.000	C
SCN5A	6331	genome.wustl.edu	37	3	38592968	38592968	+	Missense_Mutation	SNP	C	C	T	rs199473286		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:38592968C>T	ENST00000333535.4	-	28	5044	c.4895G>A	c.(4894-4896)cGc>cAc	p.R1632H	SCN5A_ENST00000451551.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1631H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1599H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1632H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1614H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1614H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1631H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1578H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1632					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTGAGGATGCGGCCTATTCG	0.592																																																	0			GRCh37	CM033023	SCN5A	M							97.0	99.0	98.0					3																	38592968		2203	4300	6503	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4895G>A	3.37:g.38592968C>T	ENSP00000328968:p.Arg1632His		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R1632H	ENST00000333535.4	37	c.4895	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498866	0.85069	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97315	3.98	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;0.987	D;D;D;D;D;P	0.87578	0.997;0.998;0.997;0.948;0.994;0.728	D	0.96728	0.9537	10	0.87932	D	0	.	17.4903	0.87701	0.0:1.0:0.0:0.0	.	1578;1599;1614;1632;1631;1632	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1614;1631;1632;1578;1631;1614;1632;1599;1578;1578	ENSP00000398962:R1614H;ENSP00000398266:R1631H;ENSP00000410257:R1632H;ENSP00000388797:R1578H;ENSP00000397915:R1631H;ENSP00000416634:R1614H;ENSP00000328968:R1632H;ENSP00000399524:R1599H;ENSP00000403355:R1578H;ENSP00000413996:R1578H	ENSP00000328968:R1632H	R	-	2	0	SCN5A	38567972	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.835000	0.69368	2.353000	0.79882	0.561000	0.74099	CGC	SCN5A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000183873		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0.00	47	0	C	NM_198056		38592968	-1	tier1	rs199473286	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	39.13	42	27	SNP	1.000	T
SCNN1A	6337	genome.wustl.edu	37	12	6457242	6457242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:6457242G>A	ENST00000228916.2	-	13	1905	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	SCNN1A_ENST00000540037.1_Nonsense_Mutation_p.Q303*|SCNN1A_ENST00000360168.3_Nonsense_Mutation_p.Q662*|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Nonsense_Mutation_p.Q625*|SCNN1A_ENST00000543768.1_Nonsense_Mutation_p.Q626*	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	603					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	gcTACCTCCTGAGCACCCCTG	0.637																																																	0													45.0	42.0	43.0					12																	6457242		2202	4300	6502	SO:0001587	stop_gained	0			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1807C>T	12.37:g.6457242G>A	ENSP00000228916:p.Gln603*		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Nonsense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.Q625*	ENST00000228916.2	37	c.1873	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.665342	0.99233	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	.	.	.	4.38	1.09	0.20402	.	1.278690	0.05575	N	0.571766	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.909	3.1083	0.06350	0.0998:0.151:0.5226:0.2266	.	.	.	.	X	662;625;303;603;626	.	ENSP00000228916:Q603X	Q	-	1	0	SCNN1A	6327503	0.000000	0.05858	0.479000	0.27329	0.884000	0.51177	0.317000	0.19487	-0.109000	0.12044	0.555000	0.69702	CAG	SCNN1A	-	NULL	ENSG00000111319		0.637	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	-	0.00	76	0	G			6457242	-1	tier1	-	no_errors	ENST00000358945	ensembl	human	known	74_37	nonsense	27.19	83	31	SNP	0.078	A
SERTAD1	29950	genome.wustl.edu	37	19	40928746	40928746	+	Silent	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:40928746G>A	ENST00000357949.4	-	2	866	c.708C>T	c.(706-708)cgC>cgT	p.R236R		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	236					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGGGCTCAGCGCCCTGGCC	0.607																																																	0													26.0	27.0	27.0					19																	40928746		2200	4300	6500	SO:0001819	synonymous_variant	0			AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.708C>T	19.37:g.40928746G>A			Q9BUE7	Silent	SNP	pfam_SERTA,pfscan_SERTA	p.R236	ENST00000357949.4	37	c.708	CCDS12557.1	19																																																																																			SERTAD1	-	NULL	ENSG00000197019		0.607	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD1	HGNC	protein_coding	OTTHUMT00000462571.1		0.00	18	0	G	NM_013376		40928746	-1			no_errors	ENST00000357949	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.997	A
SETBP1	26040	genome.wustl.edu	37	18	42643146	42643146	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr18:42643146A>C	ENST00000282030.5	+	6	4570	c.4274A>C	c.(4273-4275)aAg>aCg	p.K1425T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1425						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCACCAAGAAGAACCTGGAC	0.557									Schinzel-Giedion syndrome																																								0													54.0	51.0	52.0					18																	42643146		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4274A>C	18.37:g.42643146A>C	ENSP00000282030:p.Lys1425Thr		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.K1425T	ENST00000282030.5	37	c.4274	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863282	0.71949	.	.	ENSG00000152217	ENST00000282030	T	0.71817	-0.6	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	L	0.29908	0.895	0.32473	N	0.542582	D	0.76494	0.999	D	0.72075	0.976	T	0.81938	-0.0704	10	0.72032	D	0.01	.	15.1602	0.72778	1.0:0.0:0.0:0.0	.	1425	Q9Y6X0	SETBP_HUMAN	T	1425	ENSP00000282030:K1425T	ENSP00000282030:K1425T	K	+	2	0	SETBP1	40897144	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.382000	0.66213	2.113000	0.64589	0.460000	0.39030	AAG	SETBP1	-	NULL	ENSG00000152217		0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0.00	38	0	A	NM_001130110		42643146	+1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	54.17	11	13	SNP	1.000	C
SGIP1	84251	genome.wustl.edu	37	1	67147757	67147757	+	Silent	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:67147757A>G	ENST00000371037.4	+	15	1097	c.1020A>G	c.(1018-1020)ccA>ccG	p.P340P	SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P344P|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	340	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGCTACACCAGACAACCCAG	0.597																																																	0													99.0	121.0	114.0					1																	67147757		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1020A>G	1.37:g.67147757A>G			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P344	ENST00000371037.4	37	c.1032	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.597	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	-	0.00	55	0	A	NM_032291		67147757	+1	tier1	-	no_errors	ENST00000237247	ensembl	human	known	74_37	silent	41.51	31	22	SNP	1.000	G
SH3GL2	6456	genome.wustl.edu	37	9	17787381	17787381	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:17787381C>T	ENST00000380607.4	+	5	455	c.335C>T	c.(334-336)cCa>cTa	p.P112L	SH3GL2_ENST00000537391.1_Missense_Mutation_p.P65L	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	112	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CTCCTAGGCCCAGCACTTGGT	0.468																																																	0													104.0	104.0	104.0					9																	17787381		2203	4300	6503	SO:0001583	missense	0			X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.335C>T	9.37:g.17787381C>T	ENSP00000369981:p.Pro112Leu		B2R618|Q9NQK5	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.P112L	ENST00000380607.4	37	c.335	CCDS6483.1	9	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028364	0.35797	.	.	ENSG00000107295	ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.63096	-0.02;-0.02	5.85	5.85	0.93711	BAR (3);	0.188998	0.47852	N	0.000213	T	0.34366	0.0895	N	0.01505	-0.83	0.52501	D	0.999955	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.29027	-1.0025	10	0.26408	T	0.33	.	13.3763	0.60741	0.0:0.9282:0.0:0.0718	.	77;112	B7Z7W3;Q99962	.;SH3G2_HUMAN	L	90;112;65	ENSP00000369981:P112L;ENSP00000443365:P65L	ENSP00000369981:P112L	P	+	2	0	SH3GL2	17777381	0.176000	0.23096	1.000000	0.80357	0.988000	0.76386	1.830000	0.39131	2.757000	0.94681	0.650000	0.86243	CCA	SH3GL2	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000107295		0.468	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL2	HGNC	protein_coding	OTTHUMT00000051796.1	-	0.00	67	0	C	NM_003026		17787381	+1	tier1	-	no_errors	ENST00000380607	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
SI	6476	genome.wustl.edu	37	3	164730810	164730810	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:164730810G>T	ENST00000264382.3	-	34	4082	c.4020C>A	c.(4018-4020)aaC>aaA	p.N1340K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1340	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTATTGTTATGTTGGGCAAAT	0.348										HNSCC(35;0.089)																																							0													123.0	121.0	122.0					3																	164730810		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4020C>A	3.37:g.164730810G>T	ENSP00000264382:p.Asn1340Lys		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.N1340K	ENST00000264382.3	37	c.4020	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541716	0.27563	.	.	ENSG00000090402	ENST00000264382	D	0.88818	-2.43	4.54	-2.46	0.06461	Glycoside hydrolase, superfamily (1);	0.168162	0.52532	N	0.000076	D	0.91600	0.7346	M	0.80183	2.485	0.41796	D	0.989893	D	0.69078	0.997	D	0.70487	0.969	D	0.87836	0.2648	10	0.72032	D	0.01	.	5.8385	0.18621	0.5726:0.1301:0.2973:0.0	.	1340	P14410	SUIS_HUMAN	K	1340	ENSP00000264382:N1340K	ENSP00000264382:N1340K	N	-	3	2	SI	166213504	0.391000	0.25221	0.023000	0.16930	0.213000	0.24496	0.883000	0.28200	-0.639000	0.05502	-2.593000	0.00164	AAC	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0.00	37	0	G	NM_001041		164730810	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.855	T
SLC12A5	57468	genome.wustl.edu	37	20	44681762	44681762	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr20:44681762C>G	ENST00000454036.2	+	19	2662	c.2613C>G	c.(2611-2613)caC>caG	p.H871Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.H848Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	871					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGGCACCACAAGGTGAGTt	0.552																																																	0													177.0	104.0	129.0					20																	44681762		2203	4300	6503	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2613C>G	20.37:g.44681762C>G	ENSP00000387694:p.His871Gln		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.H871Q	ENST00000454036.2	37	c.2613	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602961	0.46423	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.87029	-2.2;-2.2	4.5	2.51	0.30379	.	0.000000	0.85682	D	0.000000	D	0.89719	0.6796	M	0.92604	3.325	0.80722	D	1	P;B	0.38788	0.647;0.39	B;B	0.41571	0.36;0.279	D	0.89707	0.3909	10	0.54805	T	0.06	.	10.2506	0.43367	0.0:0.833:0.0:0.167	.	871;848	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	Q	871;848	ENSP00000387694:H871Q;ENSP00000243964:H848Q	ENSP00000243964:H848Q	H	+	3	2	SLC12A5	44115169	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.036000	0.41165	1.100000	0.41517	-0.254000	0.11334	CAC	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0.00	40	0	C			44681762	+1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	G
SLC22A7	10864	genome.wustl.edu	37	6	43270152	43270152	+	Splice_Site	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:43270152G>T	ENST00000372585.5	+	8	1371	c.1276G>T	c.(1276-1278)Gat>Tat	p.D426Y	SLC22A7_ENST00000372589.3_Splice_Site_p.D424Y|SLC22A7_ENST00000372574.3_Splice_Site_p.D424Y	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	426					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AGTGTCCTCCGGTGAGCCCAG	0.672																																																	0													25.0	23.0	24.0					6																	43270152		2202	4297	6499	SO:0001630	splice_region_variant	0			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1276+1G>T	6.37:g.43270152G>T			B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.D426Y	ENST00000372585.5	37	c.1276	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273646	0.80580	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.27	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.536043	0.20390	N	0.093279	T	0.65544	0.2701	M	0.78223	2.4	0.80722	D	1	P;P;P	0.48350	0.909;0.889;0.889	D;P;P	0.63488	0.915;0.862;0.862	T	0.70085	-0.4969	10	0.72032	D	0.01	.	10.1751	0.42933	0.0932:0.0:0.9068:0.0	.	426;424;424	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	Y	424;426;424;119	ENSP00000361670:D424Y;ENSP00000361666:D426Y;ENSP00000361655:D424Y;ENSP00000393836:D119Y	ENSP00000361655:D424Y	D	+	1	0	SLC22A7	43378130	1.000000	0.71417	0.822000	0.32727	0.344000	0.29017	3.495000	0.53280	1.223000	0.43536	0.462000	0.41574	GAT	SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000137204		0.672	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1		0.00	24	0	G		Missense_Mutation	43270152	+1			no_errors	ENST00000372585	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.965	T
SLC24A4	123041	genome.wustl.edu	37	14	92908448	92908448	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr14:92908448G>A	ENST00000532405.1	+	5	635	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	137					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCATCTGAGCGAAGATGTGGC	0.557																																					NSCLC(10;315 435 10383 28450 38798)												0													93.0	84.0	87.0					14																	92908448		2203	4300	6503	SO:0001583	missense	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.409G>A	14.37:g.92908448G>A	ENSP00000431840:p.Glu137Lys		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.E137K	ENST00000532405.1	37	c.409	CCDS9903.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.071336|5.071336	0.93950|0.93950	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079;ENST00000554461|ENST00000525557	T;T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Sodium/calcium exchanger membrane region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78130|0.78130	0.4235|0.4235	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.72338|.	0.977;0.962;0.97|.	T|T	0.77913|0.77913	-0.2410|-0.2410	10|5	0.48119|.	T|.	0.1|.	.|.	19.4129|19.4129	0.94683|0.94683	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;73;137|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	K|Q	73;137;137;120;120;28;28|21	ENSP00000376948:E73K;ENSP00000433302:E137K;ENSP00000431840:E137K;ENSP00000298877:E120K;ENSP00000337789:E120K;ENSP00000452099:E28K|.	ENSP00000298877:E120K|.	E|R	+|+	1|2	0|0	SLC24A4|SLC24A4	91978201|91978201	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.586000|0.586000	0.36452|0.36452	9.524000|9.524000	0.98036|0.98036	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GAA|CGA	SLC24A4	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	ENSG00000140090		0.557	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	-	0.00	24	0	G	NM_153646		92908448	+1	tier1	-	no_errors	ENST00000532405	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	A
SLC2A9	56606	genome.wustl.edu	37	4	10027509	10027510	+	Intron	INS	-	-	A	rs61256984	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:10027509_10027510insA	ENST00000506583.1	-	3	281				SLC2A9_ENST00000309065.3_Intron			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9						glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AAGGGAGACAGAAAAAAAAAAG	0.455																																																	0																																										SO:0001627	intron_variant	0			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.63+17->T	4.37:g.10027519_10027519dupA			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	RNA	INS	-	NULL	ENST00000506583.1	37	NULL	CCDS3406.1	4																																																																																			SLC2A9	-	-	ENSG00000109667		0.455	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207054.2		0.00	52	0	-			10027510	-1	tier1		no_errors	ENST00000509214	ensembl	human	known	74_37	rna	7.32	38	3	INS	0.000:0.000	A
SLC35C1	55343	genome.wustl.edu	37	11	45832403	45832403	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:45832403G>T	ENST00000314134.3	+	2	2008	c.612G>T	c.(610-612)ctG>ctT	p.L204L	SLC35C1_ENST00000442528.2_Silent_p.L191L|CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000456334.1_Silent_p.L191L	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	204					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TCGGCGTGCTGGCTAGCCTCT	0.642																																																	0													47.0	46.0	46.0					11																	45832403		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.612G>T	11.37:g.45832403G>T			B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	pfam_Tpt_PEP_trans_dom,pfam_UAA,pfam_DMT	p.L204	ENST00000314134.3	37	c.612	CCDS7914.1	11																																																																																			SLC35C1	-	pfam_Tpt_PEP_trans_dom,pfam_UAA	ENSG00000181830		0.642	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35C1	HGNC	protein_coding	OTTHUMT00000390139.1	-	0.00	62	0	G	NM_018389		45832403	+1	tier1	-	no_errors	ENST00000314134	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T
SLCO1B3	28234	genome.wustl.edu	37	12	21033792	21033792	+	Silent	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:21033792T>C	ENST00000381545.3	+	12	1554	c.1335T>C	c.(1333-1335)aaT>aaC	p.N445N	SLCO1B3_ENST00000261196.2_Silent_p.N445N|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.N445N|SLCO1B3_ENST00000553473.1_Silent_p.N445N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	445					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTTTCAGAAATAATTCAGTGG	0.383																																																	0													67.0	67.0	67.0					12																	21033792		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1335T>C	12.37:g.21033792T>C			E7EMT8|Q5JAR4	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.N445	ENST00000381545.3	37	c.1335	CCDS8684.1	12																																																																																			SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.383	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0.00	41	0	T	NM_019844		21033792	+1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	silent	41.30	27	19	SNP	0.096	C
SMARCA2	6595	genome.wustl.edu	37	9	2182150	2182150	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:2182150C>T	ENST00000382203.1	+	31	4578	c.4369C>T	c.(4369-4371)Cgt>Tgt	p.R1457C	SMARCA2_ENST00000302401.3_Missense_Mutation_p.R145C|SMARCA2_ENST00000324954.5_Missense_Mutation_p.R103C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1439C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1439C|SMARCA2_ENST00000382185.1_Missense_Mutation_p.R103C|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1457C|SMARCA2_ENST00000382186.1_Missense_Mutation_p.R121C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1457	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R1453C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGAAAGGATTCGTAATCATAA	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											131.0	130.0	130.0					9																	2182150		2203	4300	6503	SO:0001583	missense	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4369C>T	9.37:g.2182150C>T	ENSP00000371638:p.Arg1457Cys		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R1457C	ENST00000382203.1	37	c.4369	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168750	0.38315	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000452193;ENST00000302401;ENST00000324954;ENST00000423555;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000416751	T;T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.84	5.84	0.93424	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	M	0.67700	2.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.996;0.998	T	0.57464	-0.7807	10	0.87932	D	0	-11.9829	20.1579	0.98126	0.0:1.0:0.0:0.0	.	143;145;1439;1457	B4DNT1;B1ALF6;P51531-2;P51531	.;.;.;SMCA2_HUMAN	C	1457;1439;1457;1439;121;145;103;143;121;143;103;103;103	ENSP00000265773:R1457C;ENSP00000349788:R1439C;ENSP00000371638:R1457C;ENSP00000371629:R1439C;ENSP00000401096:R121C;ENSP00000305411:R145C;ENSP00000324770:R103C;ENSP00000413057:R143C;ENSP00000371621:R121C;ENSP00000387486:R143C;ENSP00000371620:R103C;ENSP00000371618:R103C;ENSP00000412242:R103C	ENSP00000305411:R145C	R	+	1	0	SMARCA2	2172150	0.994000	0.37717	0.961000	0.40146	0.115000	0.19883	3.196000	0.51020	2.767000	0.95098	0.555000	0.69702	CGT	SMARCA2	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000080503		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1		0.00	35	0	C	NM_003070		2182150	+1			no_errors	ENST00000349721	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.997	T
SORT1	6272	genome.wustl.edu	37	1	109856993	109856993	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:109856993G>T	ENST00000256637.6	-	19	2429	c.2371C>A	c.(2371-2373)Cga>Aga	p.R791R	SORT1_ENST00000538502.1_Silent_p.R654R	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	791	Golgi to endosome transport and interactions with GGA1 and GGA2.				endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAGAGTATCGATGCACCAGG	0.488																																																	0													70.0	67.0	68.0					1																	109856993		2203	4300	6503	SO:0001819	synonymous_variant	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.2371C>A	1.37:g.109856993G>T			B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	pfam_BNR_rpt,smart_VPS10	p.R791	ENST00000256637.6	37	c.2371	CCDS798.1	1																																																																																			SORT1	-	NULL	ENSG00000134243		0.488	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1		0.00	23	0	G	NM_002959		109856993	-1			no_errors	ENST00000256637	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.999	T
C11orf58	10944	genome.wustl.edu	37	11	16760076	16760076	+	5'UTR	SNP	T	T	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:16760076T>A	ENST00000228136.4	+	0	129				C11orf58_ENST00000422258.2_5'Flank|C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_5'Flank			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58											NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TTCCTGGGAATTGTAGTTTTA	0.582																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.-250T>A	11.37:g.16760076T>A			B2RD28	RNA	SNP	-	NULL	ENST00000228136.4	37	NULL	CCDS7822.1	11																																																																																			SOX6	-	-	ENSG00000110693		0.582	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000387023.2	-	0.00	119	0	T	NM_014267		16760076	-1	tier1	-	no_errors	ENST00000524520	ensembl	human	known	74_37	rna	69.44	22	50	SNP	0.990	A
SP100	6672	genome.wustl.edu	37	2	231404024	231404024	+	Missense_Mutation	SNP	C	C	T	rs199971910	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:231404024C>T	ENST00000340126.4	+	25	2168	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|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 transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAAATGGGGACGGCTGTTCTG	0.498													C|||	2	0.000399361	0.0	0.0	5008	,	,		21099	0.0		0.002	False		,,,				2504	0.0																0								C	TRP/ARG	1,4117		0,1,2058	129.0	133.0	132.0		2137	-8.5	0.0	2		132	28,8376		0,28,4174	yes	missense	SP100	NM_001080391.1	101	0,29,6232	TT,TC,CC		0.3332,0.0243,0.2316	possibly-damaging	713/886	231404024	29,12493	2059	4202	6261	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2137C>T	2.37:g.231404024C>T	ENSP00000343023:p.Arg713Trp		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.R713W	ENST00000340126.4	37	c.2137	CCDS42832.1	2	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	9.927|9.927	1.213851|1.213851	0.22289|0.22289	2.43E-4|2.43E-4	0.003332|0.003332	ENSG00000067066|ENSG00000067066	ENST00000340126;ENST00000414648|ENST00000431952	D|.	0.85013|.	-1.93|.	4.24|4.24	-8.48|-8.48	0.00935|0.00935	.|.	.|.	.|.	.|.	.|.	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;D|.	0.56968|.	0.296;0.978|.	B;B|.	0.43916|.	0.122;0.436|.	T|T	0.21518|0.21518	-1.0243|-1.0243	9|5	0.49607|.	T|.	0.09|.	.|.	7.2749|7.2749	0.26279|0.26279	0.1355:0.6002:0.1598:0.1045|0.1355:0.6002:0.1598:0.1045	.|.	183;713|.	E9PHN1;P23497-4|.	.;.|.	W|M	713;183|86	ENSP00000343023:R713W|.	ENSP00000343023:R713W|.	R|T	+|+	1|2	2|0	SP100|SP100	231112268|231112268	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-2.490000|-2.490000	0.00975|0.00975	-2.504000|-2.504000	0.00508|0.00508	-1.194000|-1.194000	0.01681|0.01681	CGG|ACG	SP100	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000067066		0.498	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000332246.1		0.00	36	0	C	NM_003113		231404024	+1			no_errors	ENST00000340126	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.000	T
SPATA32	124783	genome.wustl.edu	37	17	43332527	43332527	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:43332527A>G	ENST00000331780.4	-	4	1117	c.1022T>C	c.(1021-1023)cTc>cCc	p.L341P	SPATA32_ENST00000543122.1_Missense_Mutation_p.L320P|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	341					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TGGTGGCTGGAGAAGCTGGAT	0.562																																																	0													95.0	81.0	86.0					17																	43332527		2203	4300	6503	SO:0001583	missense	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.1022T>C	17.37:g.43332527A>G	ENSP00000331532:p.Leu341Pro		Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	NULL	p.L341P	ENST00000331780.4	37	c.1022	CCDS32669.1	17	.	.	.	.	.	.	.	.	.	.	A	19.33	3.807804	0.70797	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.57907	0.37;0.37	4.38	4.38	0.52667	.	0.352689	0.20920	N	0.083283	T	0.63177	0.2489	L	0.48642	1.525	0.52099	D	0.999947	D	0.89917	1.0	D	0.76575	0.988	T	0.64411	-0.6414	10	0.62326	D	0.03	-16.4966	10.144	0.42751	1.0:0.0:0.0:0.0	.	341	Q96LK8	CQ046_HUMAN	P	341;320	ENSP00000331532:L341P;ENSP00000442724:L320P	ENSP00000331532:L341P	L	-	2	0	C17orf46	40688310	0.996000	0.38824	0.894000	0.35097	0.269000	0.26545	3.945000	0.56637	1.965000	0.57142	0.418000	0.28097	CTC	SPATA32	-	NULL	ENSG00000184361		0.562	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1		0.00	68	0	A	NM_152343		43332527	-1			no_errors	ENST00000331780	ensembl	human	known	74_37	missense	5.13	111	6	SNP	0.965	G
SPATA6L	55064	genome.wustl.edu	37	9	4661989	4661989	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:4661989G>T	ENST00000454239.2	-	3	332	c.87C>A	c.(85-87)ctC>ctA	p.L29L	SPATA6L_ENST00000381895.5_5'UTR|SPATA6L_ENST00000475086.1_Silent_p.L29L|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Silent_p.L29L|PPAPDC2_ENST00000381883.2_5'Flank			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	29																	GGTAGACCCCGAGGTACACAT	0.438											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90.0	83.0	85.0					9																	4661989		1877	4114	5991	SO:0001819	synonymous_variant	0			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.87C>A	9.37:g.4661989G>T		620	B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	NULL	p.L29	ENST00000454239.2	37	c.87		9																																																																																			SPATA6L	-	NULL	ENSG00000106686		0.438	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding			0.00	23	0	G	NM_017985		4661989	-1			no_errors	ENST00000454239	ensembl	human	known	74_37	silent	16.67	10	2	SNP	0.545	T
SPON1	10418	genome.wustl.edu	37	11	14276219	14276219	+	RNA	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:14276219G>T	ENST00000310358.7	+	0	1571							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.V345L(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGTCCAGAAGGTGGTGCAAGA	0.572																																																	1	Substitution - Missense(1)	lung(1)											108.0	117.0	114.0					11																	14276219		2175	4273	6448			0			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276219G>T			A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	-	NULL	ENST00000310358.7	37	NULL		11	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447425	0.43429	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.67	4.75	0.60458	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	.	.	.	0.49582	D	0.999805	B	0.09022	0.002	B	0.06405	0.002	T	0.50013	-0.8877	7	0.23891	T	0.37	.	14.4062	0.67083	0.0:0.1488:0.8512:0.0	.	346	Q9HCB6	SPON1_HUMAN	L	345	.	ENSP00000309297:V345L	V	+	1	0	SPON1	14232795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	1.370000	0.46153	0.561000	0.74099	GTG	SPON1	-	-	ENSG00000152268		0.572	SPON1-201	KNOWN	basic	processed_transcript	SPON1	HGNC	processed_transcript		-	0.00	80	0	G	NM_145584		14276219	+1	tier1	-	no_errors	ENST00000310358	ensembl	human	known	74_37	rna	7.55	49	4	SNP	1.000	T
SRP68	6730	genome.wustl.edu	37	17	74046583	74046583	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:74046583G>A	ENST00000307877.2	-	9	1164	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.R234C|SRP68_ENST00000539137.1_Missense_Mutation_p.R297C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	335					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCAAACAGGCGCTCCTTAGTT	0.517																																																	0													110.0	94.0	100.0					17																	74046583		2203	4300	6503	SO:0001583	missense	0			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1003C>T	17.37:g.74046583G>A	ENSP00000312066:p.Arg335Cys		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	NULL	p.R335C	ENST00000307877.2	37	c.1003	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.390853	0.95988	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.87	5.87	0.94306	.	0.045759	0.85682	D	0.000000	T	0.62792	0.2457	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.49953	0.627;0.627	T	0.63808	-0.6553	9	0.56958	D	0.05	-18.7764	19.1942	0.93681	0.0:0.0:1.0:0.0	.	297;335	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	75;297;335;335;304;234	.	ENSP00000307756:R304C	R	-	1	0	SRP68	71558178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.175000	0.94831	2.785000	0.95823	0.655000	0.94253	CGC	SRP68	-	NULL	ENSG00000167881		0.517	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1		0.00	35	0	G	NM_014230		74046583	-1			no_errors	ENST00000307877	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A
SUCLG1	8802	genome.wustl.edu	37	2	84668530	84668530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:84668530delA	ENST00000393868.2	-	4	582	c.372delT	c.(370-372)tttfs	p.F124fs		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	124					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CAGCAGCAGCAAAAGGCGGAG	0.438																																					Ovarian(48;203 1101 37206 40305 50790)												0													68.0	68.0	68.0					2																	84668530		2203	4300	6503	SO:0001589	frameshift_variant	0			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.372delT	2.37:g.84668530delA	ENSP00000377446:p.Phe124fs		Q9BWB0|Q9UNP6	Frame_Shift_Del	DEL	pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha	p.F124fs	ENST00000393868.2	37	c.372	CCDS1967.2	2																																																																																			SUCLG1	-	pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha	ENSG00000163541		0.438	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG1	HGNC	protein_coding	OTTHUMT00000252298.2		0.00	29	0	A	NM_003849		84668530	-1	tier1		no_errors	ENST00000393868	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-
ST6GAL2	84620	genome.wustl.edu	37	2	107459975	107459975	+	Silent	SNP	G	G	T	rs142520495		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:107459975G>T	ENST00000409382.3	-	2	1069	c.459C>A	c.(457-459)ccC>ccA	p.P153P	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.P153P|ST6GAL2_ENST00000361686.4_Silent_p.P153P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	153					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.P153P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTGGCTCCCCGGGGGAAGGGA	0.622																																																	1	Substitution - coding silent(1)	lung(1)											82.0	99.0	93.0					2																	107459975		2203	4300	6503	SO:0001819	synonymous_variant	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.459C>A	2.37:g.107459975G>T			D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.P153	ENST00000409382.3	37	c.459	CCDS2073.1	2																																																																																			ST6GAL2	-	NULL	ENSG00000144057		0.622	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	-	0.00	33	0	G	NM_032528		107459975	-1	tier1	-	no_errors	ENST00000361686	ensembl	human	known	74_37	silent	48.00	13	12	SNP	0.000	T
SVIL	6840	genome.wustl.edu	37	10	29777621	29777621	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr10:29777621G>T	ENST00000355867.4	-	23	5009	c.4257C>A	c.(4255-4257)agC>agA	p.S1419R	SVIL_ENST00000535393.1_Missense_Mutation_p.S333R|SVIL_ENST00000375400.3_Missense_Mutation_p.S993R|SVIL_ENST00000375398.2_Missense_Mutation_p.S1419R|SVIL_ENST00000538146.1_Missense_Mutation_p.S211R|PTCHD3P1_ENST00000413405.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1419	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.S1419S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGCTGACGTTGCTGAAGTTTT	0.507																																																	1	Substitution - coding silent(1)	urinary_tract(1)											52.0	44.0	47.0					10																	29777621		2203	4297	6500	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4257C>A	10.37:g.29777621G>T	ENSP00000348128:p.Ser1419Arg		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S1419R	ENST00000355867.4	37	c.4257	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950586	0.92660	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.86297	2.57;2.58;2.58;2.48;-2.1	4.92	4.92	0.64577	.	0.036689	0.85682	D	0.000000	D	0.88284	0.6395	M	0.74881	2.28	0.58432	D	0.999998	B;B;B;B	0.34015	0.036;0.138;0.371;0.435	B;B;B;B	0.36134	0.073;0.071;0.198;0.218	D	0.88833	0.3307	10	0.59425	D	0.04	-24.3161	18.3624	0.90379	0.0:0.0:1.0:0.0	.	333;211;993;1419	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	R	993;1419;1419;333;373;211	ENSP00000364549:S993R;ENSP00000364547:S1419R;ENSP00000348128:S1419R;ENSP00000445472:S333R;ENSP00000440343:S211R	ENSP00000348128:S1419R	S	-	3	2	SVIL	29817627	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.448000	0.66612	2.577000	0.86979	0.485000	0.47835	AGC	SVIL	-	NULL	ENSG00000197321		0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1		0.00	45	0	G			29777621	-1			no_errors	ENST00000355867	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
SYP	6855	genome.wustl.edu	37	X	49050791	49050791	+	Silent	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chrX:49050791G>A	ENST00000263233.4	-	4	327	c.255C>T	c.(253-255)ccC>ccT	p.P85P	SYP_ENST00000479808.1_Silent_p.P85P|SYP_ENST00000538567.1_5'UTR	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	85	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CTCGGCAGGTGGGTGCATCAA	0.587																																																	0													58.0	47.0	50.0					X																	49050791		2203	4300	6503	SO:0001819	synonymous_variant	0			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.255C>T	X.37:g.49050791G>A			B2R7L6|B7Z359|Q6P2F7	Silent	SNP	pfam_Marvel,prints_Synaptophysin/porin	p.P85	ENST00000263233.4	37	c.255	CCDS14321.1	X																																																																																			SYP	-	pfam_Marvel	ENSG00000102003		0.587	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYP	HGNC	protein_coding	OTTHUMT00000083625.2	-	0.00	10	0	G	NM_003179		49050791	-1	tier1	-	no_errors	ENST00000263233	ensembl	human	known	74_37	silent	76.47	4	13	SNP	0.972	A
TAF5L	27097	genome.wustl.edu	37	1	229730114	229730114	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:229730114A>G	ENST00000366676.1	-	4	1699	c.1700T>C	c.(1699-1701)cTg>cCg	p.L567P	TAF5L_ENST00000258281.2_Missense_Mutation_p.L567P			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	567					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGCACGCTCAGGACGTTGCT	0.527																																																	0													77.0	70.0	72.0					1																	229730114		2203	4300	6503	SO:0001583	missense	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1700T>C	1.37:g.229730114A>G	ENSP00000355636:p.Leu567Pro		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L567P	ENST00000366676.1	37	c.1700	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274509	0.80580	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	D;D	0.82255	-1.59;-1.59	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86261	0.1655	10	0.39692	T	0.17	-16.246	16.4473	0.83942	1.0:0.0:0.0:0.0	.	567	O75529	TAF5L_HUMAN	P	567	ENSP00000355636:L567P;ENSP00000258281:L567P	ENSP00000258281:L567P	L	-	2	0	TAF5L	227796737	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.276000	0.95745	2.281000	0.76405	0.533000	0.62120	CTG	TAF5L	-	superfamily_WD40_repeat_dom	ENSG00000135801		0.527	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	-	0.00	48	0	A	NM_014409		229730114	-1	tier1	-	no_errors	ENST00000258281	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	G
TBC1D32	221322	genome.wustl.edu	37	6	121642778	121642778	+	Splice_Site	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:121642778C>T	ENST00000398212.2	-	2	367		c.e2+1		TBC1D32_ENST00000275159.6_Splice_Site	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32						cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										GCCATACTCACTCTTTAGATT	0.408																																																	0													230.0	215.0	220.0					6																	121642778		1914	4120	6034	SO:0001630	splice_region_variant	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.317+1G>A	6.37:g.121642778C>T			Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Splice_Site	SNP	-	e2+1	ENST00000398212.2	37	c.317+1	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620161	0.66787	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7751	0.91908	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf170	121684477	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.807000	0.75201	2.456000	0.83038	0.609000	0.83330	.	TBC1D32	-	-	ENSG00000146350		0.408	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0.00	47	0	C	NM_152730	Intron	121642778	-1	tier1	-	no_errors	ENST00000464622	ensembl	human	known	74_37	splice_site	75.00	10	30	SNP	1.000	T
TBL3	10607	genome.wustl.edu	37	16	2024606	2024606	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:2024606G>A	ENST00000568546.1	+	5	433	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	102					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGCGTTACCCGCCTGTGGAAG	0.677																																					Melanoma(118;616 1651 35077 38081 48633)												0													29.0	32.0	31.0					16																	2024606		2198	4296	6494	SO:0001583	missense	0			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.305G>A	16.37:g.2024606G>A	ENSP00000454836:p.Arg102His		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R102H	ENST00000568546.1	37	c.305	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887188	0.72410	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.237542	0.39146	N	0.001458	T	0.80412	0.4618	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.83293	-0.0032	9	0.49607	T	0.09	-15.7473	17.2223	0.86961	0.0:0.0:1.0:0.0	.	102	Q12788	TBL3_HUMAN	H	102	.	ENSP00000331815:R102H	R	+	2	0	TBL3	1964607	1.000000	0.71417	0.945000	0.38365	0.697000	0.40408	9.375000	0.97178	2.301000	0.77427	0.561000	0.74099	CGC	TBL3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000183751		0.677	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	-	0.00	64	0	G	NM_006453		2024606	+1	tier1	-	no_errors	ENST00000568546	ensembl	human	known	74_37	missense	24.53	40	13	SNP	1.000	A
TDRD6	221400	genome.wustl.edu	37	6	46656622	46656622	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:46656622G>A	ENST00000316081.6	+	1	757	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.A253T	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	253					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGTGACGGAGGCCGTGGTCAT	0.642																																																	0													25.0	22.0	23.0					6																	46656622		2200	4297	6497	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.757G>A	6.37:g.46656622G>A	ENSP00000346065:p.Ala253Thr		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.A253T	ENST00000316081.6	37	c.757	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524830	0.27299	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10099	2.91;2.91	6.07	4.28	0.50868	Maternal tudor protein (1);	0.700942	0.14851	N	0.294674	T	0.01421	0.0046	N	0.02011	-0.69	0.20563	N	0.999882	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47947	-0.9077	10	0.26408	T	0.33	-5.4964	13.348	0.60584	0.1261:0.752:0.1218:0.0	.	253;253	F5H5M3;O60522	.;TDRD6_HUMAN	T	253	ENSP00000443299:A253T;ENSP00000346065:A253T	ENSP00000346065:A253T	A	+	1	0	TDRD6	46764581	1.000000	0.71417	0.987000	0.45799	0.758000	0.43043	1.897000	0.39799	0.875000	0.35847	-0.128000	0.14901	GCC	TDRD6	-	pfam_Tudor	ENSG00000180113		0.642	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0.00	83	0	G	XM_166443		46656622	+1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.991	A
TECTA	7007	genome.wustl.edu	37	11	120976651	120976651	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:120976651G>T	ENST00000392793.1	+	3	447	c.176G>T	c.(175-177)gGc>gTc	p.G59V	TECTA_ENST00000264037.2_Missense_Mutation_p.G59V			O75443	TECTA_HUMAN	tectorin alpha	59					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTCTTCTTTGGCGTTCCTTAC	0.433																																																	0													261.0	252.0	255.0					11																	120976651		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.176G>T	11.37:g.120976651G>T	ENSP00000376543:p.Gly59Val			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.G59V	ENST00000392793.1	37	c.176	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669329	0.67814	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76316	-1.01;-1.01	5.78	5.78	0.91487	.	0.222920	0.46758	D	0.000273	D	0.88760	0.6524	M	0.91300	3.195	0.58432	D	0.999999	D	0.64830	0.994	P	0.54100	0.742	D	0.90803	0.4695	10	0.87932	D	0	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	59	O75443	TECTA_HUMAN	V	59	ENSP00000376543:G59V;ENSP00000264037:G59V	ENSP00000264037:G59V	G	+	2	0	TECTA	120481861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.801000	0.69115	2.729000	0.93468	0.650000	0.86243	GGC	TECTA	-	NULL	ENSG00000109927		0.433	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0.00	65	0	G	NM_005422		120976651	+1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
TENM3	55714	genome.wustl.edu	37	4	183721070	183721070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr4:183721070delG	ENST00000511685.1	+	28	7789	c.7666delG	c.(7666-7668)gagfs	p.E2556fs	TENM3_ENST00000406950.2_Frame_Shift_Del_p.E2556fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2556					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CACCACGCCCGAGAGCGACCT	0.632																																																	0													31.0	36.0	34.0					4																	183721070		2181	4269	6450	SO:0001589	frameshift_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7666delG	4.37:g.183721070delG	ENSP00000424226:p.Glu2556fs		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E2556fs	ENST00000511685.1	37	c.7666	CCDS47165.1	4																																																																																			TENM3	-	NULL	ENSG00000218336		0.632	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1		0.00	17	0	G			183721070	+1	tier1		no_errors	ENST00000406950	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	1.000	-
TICRR	90381	genome.wustl.edu	37	15	90127587	90127587	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:90127587G>T	ENST00000268138.7	+	3	1110	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	RP11-429B14.3_ENST00000560477.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.Q334H|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	335					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GACATTTTCAGAAACCAGTCA	0.473																																																	0													74.0	72.0	72.0					15																	90127587		1839	4088	5927	SO:0001583	missense	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1005G>T	15.37:g.90127587G>T	ENSP00000268138:p.Gln335His		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.Q335H	ENST00000268138.7	37	c.1005	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	G	2.950	-0.216937	0.06101	.	.	ENSG00000140534	ENST00000268138	T	0.15256	2.44	5.02	0.236	0.15471	.	0.447210	0.24461	N	0.038331	T	0.12987	0.0315	L	0.46157	1.445	0.09310	N	1	B	0.28208	0.203	B	0.31337	0.128	T	0.20140	-1.0284	10	0.33940	T	0.23	-7.5398	5.1512	0.15011	0.4827:0.0:0.3806:0.1366	.	335	Q7Z2Z1	TICRR_HUMAN	H	335	ENSP00000268138:Q335H	ENSP00000268138:Q335H	Q	+	3	2	C15orf42	87928591	0.710000	0.27896	0.837000	0.33122	0.087000	0.18053	0.751000	0.26348	-0.150000	0.11195	-0.157000	0.13467	CAG	TICRR	-	NULL	ENSG00000140534		0.473	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	-	0.00	52	0	G	NM_152259		90127587	+1	tier1	-	no_errors	ENST00000268138	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.133	T
TMEM214	54867	genome.wustl.edu	37	2	27261402	27261402	+	Splice_Site	SNP	T	T	C			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:27261402T>C	ENST00000238788.9	+	11	1355		c.e11+2		TMEM214_ENST00000404032.3_Splice_Site	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214						apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCCAAGAAGGTGAGGAGCTGG	0.612																																																	0													65.0	77.0	73.0					2																	27261402		2011	4161	6172	SO:0001630	splice_region_variant	0				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1293+2T>C	2.37:g.27261402T>C			A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Splice_Site	SNP	-	e11+2	ENST00000238788.9	37	c.1293+2	CCDS42664.1	2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180404	0.78677	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000425720;ENST00000444135	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4782	0.61320	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM214	27114906	0.969000	0.33509	0.990000	0.47175	0.977000	0.68977	2.012000	0.40932	2.181000	0.69327	0.459000	0.35465	.	TMEM214	-	-	ENSG00000119777		0.612	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1		0.00	45	0	T	NM_017727	Intron	27261402	+1			no_errors	ENST00000238788	ensembl	human	known	74_37	splice_site	11.43	31	4	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	GMAF=0.0005	0.00	32	0	C	NM_000546		7577120	-1	tier1	rs28934576	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	73.68	5	14	SNP	0.864	T
TRIM42	287015	genome.wustl.edu	37	3	140397334	140397334	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:140397334G>T	ENST00000286349.3	+	1	454	c.263G>T	c.(262-264)tGc>tTc	p.C88F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	88	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AATCTCAACTGCTACTACTAT	0.547																																																	0													63.0	55.0	57.0					3																	140397334		2203	4300	6503	SO:0001583	missense	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.263G>T	3.37:g.140397334G>T	ENSP00000286349:p.Cys88Phe		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.C88F	ENST00000286349.3	37	c.263	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	8.833	0.940419	0.18281	.	.	ENSG00000155890	ENST00000286349	T	0.16897	2.31	5.15	4.27	0.50696	.	0.099160	0.44902	D	0.000405	T	0.20700	0.0498	N	0.14661	0.345	0.37827	D	0.928581	D	0.65815	0.995	P	0.60886	0.88	T	0.13656	-1.0501	10	0.72032	D	0.01	-37.3557	11.3219	0.49428	0.0:0.0:0.8178:0.1822	.	88	Q8IWZ5	TRI42_HUMAN	F	88	ENSP00000286349:C88F	ENSP00000286349:C88F	C	+	2	0	TRIM42	141880024	1.000000	0.71417	0.987000	0.45799	0.317000	0.28152	5.577000	0.67444	1.286000	0.44565	-0.181000	0.13052	TGC	TRIM42	-	NULL	ENSG00000155890		0.547	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2		0.00	25	0	G	NM_152616		140397334	+1			no_errors	ENST00000286349	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.996	T
TRIP10	9322	genome.wustl.edu	37	19	6743039	6743039	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:6743039C>T	ENST00000313244.9	+	4	294	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000313285.8_Missense_Mutation_p.R87W|TRIP10_ENST00000596758.1_Missense_Mutation_p.R87W			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	87	F-BAR domain.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TGCAGGCCAGCGGGAGCTGGT	0.552																																																	0													88.0	84.0	86.0					19																	6743039		2203	4300	6503	SO:0001583	missense	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.259C>T	19.37:g.6743039C>T	ENSP00000320117:p.Arg87Trp		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.R87W	ENST00000313244.9	37	c.259		19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010137	0.75046	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.19669	2.13;2.13	4.21	3.15	0.36227	Fps/Fes/Fer/CIP4 homology (2);	0.138825	0.44688	D	0.000435	T	0.44993	0.1320	M	0.77313	2.365	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	T	0.46569	-0.9182	10	0.87932	D	0	-23.5468	11.2609	0.49083	0.1829:0.8171:0.0:0.0	.	87;87;87	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	W	87	ENSP00000320493:R87W;ENSP00000320117:R87W	ENSP00000320117:R87W	R	+	1	2	TRIP10	6694039	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	0.819000	0.27308	0.976000	0.38417	0.555000	0.69702	CGG	TRIP10	-	pfam_FCH_dom,smart_FCH_dom	ENSG00000125733		0.552	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2		0.00	26	0	C			6743039	+1			no_errors	ENST00000313244	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T
TSTA3	7264	genome.wustl.edu	37	8	144697055	144697055	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr8:144697055G>T	ENST00000425753.2	-	4	395	c.292C>A	c.(292-294)Ctg>Atg	p.L98M	TSTA3_ENST00000529064.1_Missense_Mutation_p.L98M	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	98					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCGAGTGCAGGACGTTGTCG	0.602																																																	0													124.0	100.0	108.0					8																	144697055		2203	4300	6503	SO:0001583	missense	0			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.292C>A	8.37:g.144697055G>T	ENSP00000398803:p.Leu98Met		B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	p.L98M	ENST00000425753.2	37	c.292	CCDS6408.1	8	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698958	0.68501	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817;ENST00000526290	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.03	4.16	0.48862	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	M	0.80616	2.505	0.80722	D	1	D;D	0.60575	0.988;0.976	D;P	0.65323	0.934;0.817	D	0.97090	0.9790	10	0.72032	D	0.01	-14.9114	11.9213	0.52793	0.0853:0.0:0.9147:0.0	.	98;98	B4DZW9;Q13630	.;FCL_HUMAN	M	98	ENSP00000435386:L98M;ENSP00000398803:L98M;ENSP00000431587:L98M;ENSP00000437012:L98M;ENSP00000433331:L98M	ENSP00000398803:L98M	L	-	1	2	TSTA3	144768198	1.000000	0.71417	0.991000	0.47740	0.463000	0.32649	5.353000	0.66034	1.120000	0.41904	0.467000	0.42956	CTG	TSTA3	-	pfam_Epimerase_deHydtase	ENSG00000104522		0.602	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTA3	HGNC	protein_coding	OTTHUMT00000382263.1	-	0.00	42	0	G	NM_003313		144697055	-1	tier1	-	no_errors	ENST00000425753	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179431188	179431188	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:179431188T>G	ENST00000591111.1	-	276	74972	c.74748A>C	c.(74746-74748)caA>caC	p.Q24916H	TTN_ENST00000342175.6_Missense_Mutation_p.Q17684H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q17617H|TTN_ENST00000460472.2_Missense_Mutation_p.Q17492H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q26557H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23989H|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24916	Fibronectin type-III 81. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTATACTCTTGGTGTTCAG	0.408																																																	0													139.0	140.0	139.0					2																	179431188		1891	4117	6008	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74748A>C	2.37:g.179431188T>G	ENSP00000465570:p.Gln24916His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q23989H	ENST00000591111.1	37	c.71967		2	.	.	.	.	.	.	.	.	.	.	T	9.866	1.197527	0.22037	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.92	-0.864	0.10666	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57651	0.2068	L	0.37750	1.13	0.42393	D	0.992532	D;D;D;D	0.65815	0.995;0.995;0.995;0.995	D;D;D;D	0.66716	0.946;0.946;0.946;0.946	T	0.59241	-0.7491	9	0.87932	D	0	.	11.6572	0.51325	0.0:0.4735:0.0:0.5265	.	17492;17617;17684;24916	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	23989;17492;17684;17617;17490	ENSP00000343764:Q23989H;ENSP00000434586:Q17492H;ENSP00000340554:Q17684H;ENSP00000352154:Q17617H	ENSP00000340554:Q17684H	Q	-	3	2	TTN	179139434	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	2.019000	0.41001	-0.092000	0.12417	-0.441000	0.05720	CAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	65	0	T	NM_133378		179431188	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	30.65	43	19	SNP	0.994	G
UBE2QL1	134111	genome.wustl.edu	37	5	6449066	6449066	+	Silent	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:6449066G>A	ENST00000399816.3	+	1	331	c.60G>A	c.(58-60)gtG>gtA	p.V20V		NM_001145161.2	NP_001138633.1	A1L167	U2QL1_HUMAN	ubiquitin-conjugating enzyme E2Q family-like 1	20					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			breast(1)|endometrium(1)	2						TGGAGCTGGTGGACGAGAGCC	0.627																																																	0													197.0	189.0	191.0					5																	6449066		692	1591	2283	SO:0001819	synonymous_variant	0			AK057805	CCDS47189.1	5p15.31	2010-02-17			ENSG00000215218	ENSG00000215218			37269	protein-coding gene	gene with protein product		615832					Standard	NM_001145161		Approved	FLJ25076	uc003jdp.4	A1L167	OTTHUMG00000161683	ENST00000399816.3:c.60G>A	5.37:g.6449066G>A				Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.V20	ENST00000399816.3	37	c.60	CCDS47189.1	5																																																																																			UBE2QL1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000215218		0.627	UBE2QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2QL1	HGNC	protein_coding	OTTHUMT00000365717.1	-	0.00	18	0	G	NM_001145161		6449066	+1	tier1	-	no_errors	ENST00000399816	ensembl	human	known	74_37	silent	40.00	9	6	SNP	1.000	A
UBR1	197131	genome.wustl.edu	37	15	43339472	43339472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr15:43339472G>A	ENST00000290650.4	-	14	1633	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.R519*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	519					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R519*(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCTGTCTTCGGATTTCTTCC	0.423																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											243.0	219.0	227.0					15																	43339472		2203	4299	6502	SO:0001587	stop_gained	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1555C>T	15.37:g.43339472G>A	ENSP00000290650:p.Arg519*		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Nonsense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R519*	ENST00000290650.4	37	c.1555	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.761605	0.96906	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	.	.	.	4.61	3.49	0.39957	.	0.171941	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-4.193	11.5884	0.50931	0.0:0.0:0.1566:0.8434	.	.	.	.	X	519	.	ENSP00000290650:R519X	R	-	1	2	UBR1	41126764	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.830000	0.55768	0.912000	0.36772	-0.474000	0.04947	CGA	UBR1	-	NULL	ENSG00000159459		0.423	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1		0.00	48	0	G	NM_174916		43339472	-1			no_errors	ENST00000290650	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	A
ULK4	54986	genome.wustl.edu	37	3	41497036	41497036	+	Silent	SNP	C	C	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:41497036C>A	ENST00000301831.4	-	34	3906	c.3444G>T	c.(3442-3444)ctG>ctT	p.L1148L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1148	Poly-Leu.				cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGTTGAGCAGCAGCAGGTCTT	0.493																																																	0													104.0	106.0	106.0					3																	41497036		1922	4140	6062	SO:0001819	synonymous_variant	0			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3444G>T	3.37:g.41497036C>A			A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L1148	ENST00000301831.4	37	c.3444	CCDS43071.1	3																																																																																			ULK4	-	superfamily_ARM-type_fold	ENSG00000168038		0.493	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	-	0.00	54	0	C	XM_929989		41497036	-1	tier1	-	no_errors	ENST00000301831	ensembl	human	known	74_37	silent	22.64	41	12	SNP	1.000	A
UNC13A	23025	genome.wustl.edu	37	19	17750295	17750295	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:17750295G>T	ENST00000519716.2	-	24	2895	c.2896C>A	c.(2896-2898)Ctc>Atc	p.L966I	UNC13A_ENST00000428389.2_Missense_Mutation_p.L1054I|UNC13A_ENST00000550896.1_Missense_Mutation_p.L964I|UNC13A_ENST00000252773.7_Missense_Mutation_p.L966I|UNC13A_ENST00000552293.1_Missense_Mutation_p.L966I|UNC13A_ENST00000551649.1_Missense_Mutation_p.L966I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	966					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTGGATTTGAGGTCCTGGAGT	0.537																																																	0													79.0	79.0	79.0					19																	17750295		1957	4149	6106	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2896C>A	19.37:g.17750295G>T	ENSP00000429562:p.Leu966Ile		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1054I	ENST00000519716.2	37	c.3160	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976844	0.74360	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.89196	-2.43;-2.48;-2.4;-2.27;-2.32;-2.44	3.79	2.71	0.32032	.	0.165377	0.40818	U	0.001020	D	0.92211	0.7530	M	0.80847	2.515	0.46901	D	0.999249	D	0.61080	0.989	P	0.58013	0.831	D	0.91802	0.5452	10	0.87932	D	0	-13.7941	10.4401	0.44460	0.0:0.0:0.8029:0.1971	.	966	Q9UPW8	UN13A_HUMAN	I	966;1054;966;966;966;964	ENSP00000429562:L966I;ENSP00000400409:L1054I;ENSP00000252773:L966I;ENSP00000447236:L966I;ENSP00000447572:L966I;ENSP00000446831:L964I	ENSP00000252773:L966I	L	-	1	0	UNC13A	17611295	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.569000	0.67391	0.677000	0.31305	0.298000	0.19748	CTC	UNC13A	-	NULL	ENSG00000130477		0.537	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0.00	92	0	G	XM_038604		17750295	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
UPK2	7379	genome.wustl.edu	37	11	118828379	118828379	+	Splice_Site	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr11:118828379G>A	ENST00000264031.2	+	4	453		c.e4+1		UPK2_ENST00000534788.1_Splice_Site	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2						epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		ACActccctcgtaagtaacac	0.557											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													118.0	112.0	114.0					11																	118828379		2200	4295	6495	SO:0001630	splice_region_variant	0			Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"""uroplakin II"", ""uroplakin-2"""	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.418+1G>A	11.37:g.118828379G>A		1491	B0YJ92|O00457|Q53YV0	Splice_Site	SNP	-	e4+1	ENST00000264031.2	37	c.418+1	CCDS8404.1	11																																																																																			UPK2	-	-	ENSG00000110375		0.557	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK2	HGNC	protein_coding	OTTHUMT00000389311.1		0.00	32	0	G	NM_006760	Intron	118828379	+1			no_errors	ENST00000264031	ensembl	human	known	74_37	splice_site	7.41	25	2	SNP	1.000	A
USP13	8975	genome.wustl.edu	37	3	179474859	179474859	+	Silent	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr3:179474859G>A	ENST00000263966.3	+	16	2412	c.1941G>A	c.(1939-1941)ttG>ttA	p.L647L	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.L582L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	647	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGAACCAATTGATAGACCGTA	0.363																																																	0													265.0	259.0	261.0					3																	179474859		2203	4300	6503	SO:0001819	synonymous_variant	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1941G>A	3.37:g.179474859G>A			A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L647	ENST00000263966.3	37	c.1941	CCDS3235.1	3																																																																																			USP13	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67	ENSG00000058056		0.363	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	-	0.00	127	0	G			179474859	+1	tier1	-	no_errors	ENST00000263966	ensembl	human	known	74_37	silent	45.52	79	66	SNP	0.604	A
USP6	9098	genome.wustl.edu	37	17	5037241	5037241	+	Silent	SNP	G	G	A	rs117611547		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:5037241G>A	ENST00000574788.1	+	15	2674	c.444G>A	c.(442-444)gtG>gtA	p.V148V	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.V148V|USP6_ENST00000332776.4_Silent_p.V148V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	148	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.V148V(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACCTGGACGTGAGGACGACTC	0.557			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	3	Substitution - coding silent(3)	ovary(2)|skin(1)											220.0	174.0	189.0					17																	5037241		2203	4300	6503	SO:0001819	synonymous_variant	0			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.444G>A	17.37:g.5037241G>A			Q15634|Q86WP6|Q8IWT4	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67	p.V148	ENST00000574788.1	37	c.444	CCDS11069.2	17																																																																																			USP6	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000129204		0.557	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	-	0.00	119	0	G	NM_004505		5037241	+1	tier1	rs117611547	no_errors	ENST00000250066	ensembl	human	known	74_37	silent	8.64	74	7	SNP	1.000	A
VASP	7408	genome.wustl.edu	37	19	46029233	46029233	+	Silent	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:46029233G>A	ENST00000245932.6	+	12	1433	c.1077G>A	c.(1075-1077)ttG>ttA	p.L359L		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	359	2 X 15 AA tandem repeats of L-[EQ]-[KR]- [MV]-K-[EQ]-E-[IL]-[IL]-E-[AEV]-[FV]- [KRV]-[KQ]-E.|EVH2 block C.|EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		AGAAGGAATTGCAGAAAGTGA	0.423																																																	0													169.0	171.0	170.0					19																	46029233		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.1077G>A	19.37:g.46029233G>A			B2RBT9|Q6PIZ1|Q93035	Silent	SNP	pirsf_Vasodilator_phosphoprotein,pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.L359	ENST00000245932.6	37	c.1077	CCDS33051.1	19																																																																																			VASP	-	pirsf_Vasodilator_phosphoprotein,pfam_VASP_tetra	ENSG00000125753		0.423	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASP	HGNC	protein_coding	OTTHUMT00000459589.1	-	0.00	47	0	G			46029233	+1	tier1	-	no_errors	ENST00000245932	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.549	A
VAT1L	57687	genome.wustl.edu	37	16	77822749	77822749	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:77822749G>A	ENST00000302536.2	+	1	323	c.170G>A	c.(169-171)cGg>cAg	p.R57Q		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	57							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AACAAGCTGCGGCTCTTCAGG	0.682																																																	0													22.0	27.0	25.0					16																	77822749		2179	4265	6444	SO:0001583	missense	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.170G>A	16.37:g.77822749G>A	ENSP00000303129:p.Arg57Gln		Q8IYW8	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.R57Q	ENST00000302536.2	37	c.170	CCDS32492.1	16	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325314	0.60743	.	.	ENSG00000171724	ENST00000302536	T	0.43688	0.94	4.79	4.79	0.61399	GroES-like (1);	0.102345	0.64402	D	0.000008	T	0.27063	0.0663	L	0.34521	1.04	0.53688	D	0.999978	P	0.39782	0.688	B	0.23018	0.043	T	0.09885	-1.0654	10	0.22706	T	0.39	-11.2125	16.5741	0.84632	0.0:0.0:1.0:0.0	.	57	Q9HCJ6	VAT1L_HUMAN	Q	57	ENSP00000303129:R57Q	ENSP00000303129:R57Q	R	+	2	0	VAT1L	76380250	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.337000	0.65941	2.489000	0.83994	0.555000	0.69702	CGG	VAT1L	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000171724		0.682	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	-	0.00	160	0	G	NM_020927		77822749	+1	tier1	-	no_errors	ENST00000302536	ensembl	human	known	74_37	missense	36.36	63	36	SNP	1.000	A
VCAN	1462	genome.wustl.edu	37	5	82815321	82815321	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:82815321G>T	ENST00000265077.3	+	7	1761	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G399V|VCAN_ENST00000512590.2_Missense_Mutation_p.G351V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	399	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCTCCCGTGGGAAATATTGTC	0.423																																																	0													119.0	119.0	119.0					5																	82815321		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1196G>T	5.37:g.82815321G>T	ENSP00000265077:p.Gly399Val		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G399V	ENST00000265077.3	37	c.1196	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325060	0.41197	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86627	-2.05;-2.12;-2.15	5.92	4.13	0.48395	.	0.102260	0.43579	D	0.000543	D	0.89114	0.6623	M	0.64997	1.995	0.52501	D	0.999955	P;D	0.64830	0.899;0.994	P;P	0.58780	0.475;0.845	D	0.85660	0.1288	10	0.23891	T	0.37	.	10.2383	0.43297	0.0731:0.1432:0.7837:0.0	.	399;399	P13611-3;P13611	.;CSPG2_HUMAN	V	399;399;351	ENSP00000265077:G399V;ENSP00000342768:G399V;ENSP00000425959:G351V	ENSP00000265077:G399V	G	+	2	0	VCAN	82851077	1.000000	0.71417	0.962000	0.40283	0.385000	0.30292	1.334000	0.33827	0.816000	0.34421	0.655000	0.94253	GGA	VCAN	-	NULL	ENSG00000038427		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0.00	30	0	G	NM_004385		82815321	+1			no_errors	ENST00000265077	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.973	T
WDR54	84058	genome.wustl.edu	37	2	74650443	74650443	+	Intron	SNP	C	C	A	rs550911420	byFrequency	TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:74650443C>A	ENST00000348227.4	+	4	373				WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CCCGGTCTTCCAGATGTACGA	0.537																																																	0													160.0	154.0	156.0					2																	74650443		2203	4300	6503	SO:0001627	intron_variant	0			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.286-3C>A	2.37:g.74650443C>A			D6W5I3|Q53H85|Q86V45	RNA	SNP	-	NULL	ENST00000348227.4	37	NULL	CCDS1940.1	2																																																																																			WDR54	-	-	ENSG00000005448		0.537	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR54	HGNC	protein_coding	OTTHUMT00000252213.1	-	0.00	42	0	C	NM_032118		74650443	+1	tier1	-	no_errors	ENST00000461531	ensembl	human	known	74_37	rna	5.97	63	4	SNP	0.975	A
WDR66	144406	genome.wustl.edu	37	12	122398616	122398616	+	Silent	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr12:122398616G>T	ENST00000288912.4	+	14	3113	c.2259G>T	c.(2257-2259)ctG>ctT	p.L753L	WDR66_ENST00000397454.2_Silent_p.L753L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	753							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGGTTTACCTGGACAGCAATG	0.507																																					Esophageal Squamous(85;849 1794 49757 52143)												0													106.0	103.0	104.0					12																	122398616		1959	4151	6110	SO:0001819	synonymous_variant	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2259G>T	12.37:g.122398616G>T			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L753	ENST00000288912.4	37	c.2259	CCDS41853.1	12																																																																																			WDR66	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000158023		0.507	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	-	0.00	51	0	G	NM_144668		122398616	+1	tier1	-	no_errors	ENST00000288912	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.999	T
WWOX	51741	genome.wustl.edu	37	16	78133583	78133583	+	5'UTR	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr16:78133583C>T	ENST00000566780.1	+	0	274				WWOX_ENST00000408984.3_5'Flank|WWOX_ENST00000402655.2_5'UTR|WWOX_ENST00000569818.1_5'UTR|WWOX_ENST00000355860.3_5'UTR|WWOX_ENST00000539474.2_5'UTR|WWOX_ENST00000406884.2_5'UTR	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase						cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CGGGCCCCGACGCGCGCGGGT	0.711																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.-93C>T	16.37:g.78133583C>T			A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	RNA	SNP	-	NULL	ENST00000566780.1	37	NULL	CCDS42196.1	16																																																																																			WWOX	-	-	ENSG00000186153		0.711	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	-	0.00	20	0	C			78133583	+1	tier1	-	no_errors	ENST00000562214	ensembl	human	putative	74_37	rna	35.71	9	5	SNP	0.051	T
ZACN	353174	genome.wustl.edu	37	17	74076366	74076366	+	Silent	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr17:74076366C>T	ENST00000334586.5	+	5	488	c.405C>T	c.(403-405)ccC>ccT	p.P135P	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	135					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						ACCAGAGCCCCCAGGCTCGAG	0.667																																																	0													56.0	54.0	55.0					17																	74076366		2203	4300	6503	SO:0001819	synonymous_variant	0			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.405C>T	17.37:g.74076366C>T			Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM	p.P135	ENST00000334586.5	37	c.405	CCDS11740.2	17																																																																																			ZACN	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000186919		0.667	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2	-	0.00	74	0	C	NM_180990		74076366	+1	tier1	-	no_errors	ENST00000334586	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.000	T
ZBTB6	10773	genome.wustl.edu	37	9	125674188	125674188	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr9:125674188G>T	ENST00000373659.3	-	2	252	c.164C>A	c.(163-165)tCc>tAc	p.S55Y		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	55	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S55C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CATAAAAGTGGAGCAAGCAGC	0.373																																																	1	Substitution - Missense(1)	breast(1)											113.0	119.0	117.0					9																	125674188		2203	4300	6503	SO:0001583	missense	0			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.164C>A	9.37:g.125674188G>T	ENSP00000362763:p.Ser55Tyr		A8K8N6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S55Y	ENST00000373659.3	37	c.164	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076092	0.76415	.	.	ENSG00000186130	ENST00000373659	D	0.85955	-2.05	6.17	6.17	0.99709	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96399	0.9295	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	55	Q15916	ZBTB6_HUMAN	Y	55	ENSP00000362763:S55Y	ENSP00000362763:S55Y	S	-	2	0	ZBTB6	124714009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TCC	ZBTB6	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000186130		0.373	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1		0.00	30	0	G	NM_006626		125674188	-1			no_errors	ENST00000373659	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	T
ZFP62	643836	genome.wustl.edu	37	5	180276223	180276223	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr5:180276223C>T	ENST00000502412.1	-	2	2329	c.2272G>A	c.(2272-2274)Gtg>Atg	p.V758M	ZFP62_ENST00000512132.1_Missense_Mutation_p.V725M|ZFP62_ENST00000359141.6_Missense_Mutation_p.V698M|ZFP62_ENST00000506377.1_Intron	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATCACACACATAGGGTTTC	0.493																																																	0													87.0	82.0	83.0					5																	180276223		692	1591	2283	SO:0001583	missense	0			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.2272G>A	5.37:g.180276223C>T	ENSP00000423820:p.Val758Met		B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V725M	ENST00000502412.1	37	c.2173	CCDS54955.1	5	.	.	.	.	.	.	.	.	.	.	.	10.17	1.277408	0.23307	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412;ENST00000405851	T;T;T	0.34472	1.36;1.36;1.36	4.45	-1.8	0.07907	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21509	0.0518	N	0.19112	0.55	0.09310	N	1	B	0.33826	0.427	B	0.36418	0.224	T	0.23013	-1.0200	9	0.59425	D	0.04	.	5.5472	0.17071	0.1427:0.316:0.0:0.5412	.	758	Q8NB50	ZFP62_HUMAN	M	725;698;758;356	ENSP00000426193:V725M;ENSP00000352053:V698M;ENSP00000423820:V758M	ENSP00000352053:V698M	V	-	1	0	ZFP62	180208829	0.000000	0.05858	0.035000	0.18076	0.932000	0.56968	-3.012000	0.00647	-0.393000	0.07739	0.563000	0.77884	GTG	ZFP62	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196670		0.493	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	-	0.00	50	0	C	NM_152283		180276223	-1	tier1	-	no_errors	ENST00000512132	ensembl	human	known	74_37	missense	30.00	28	12	SNP	0.003	T
ZNF479	90827	genome.wustl.edu	37	7	57193732	57193732	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:57193732T>G	ENST00000331162.4	-	4	525	c.255A>C	c.(253-255)aaA>aaC	p.K85N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	85	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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TACCTGGGTGTTTGGCTACCA	0.448																																																	0													76.0	82.0	80.0					7																	57193732		2053	4103	6156	SO:0001583	missense	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.255A>C	7.37:g.57193732T>G	ENSP00000333776:p.Lys85Asn			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.K85N	ENST00000331162.4	37	c.255	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	8.776	0.927188	0.18056	.	.	ENSG00000185177	ENST00000331162	T	0.06608	3.28	0.699	-0.561	0.11785	Krueppel-associated box (1);	.	.	.	.	T	0.09247	0.0228	N	0.17278	0.47	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.33548	-0.9864	8	0.39692	T	0.17	.	.	.	.	.	85	Q96JC4	ZN479_HUMAN	N	85	ENSP00000333776:K85N	ENSP00000333776:K85N	K	-	3	2	ZNF479	57197674	0.017000	0.18338	0.011000	0.14972	0.028000	0.11728	-0.114000	0.10757	-0.213000	0.10094	0.324000	0.21423	AAA	ZNF479	-	pfscan_Krueppel-associated_box	ENSG00000185177		0.448	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	-	0.00	87	0	T	XM_291202		57193732	-1	tier1	-	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	29.17	85	35	SNP	0.056	G
ZNF425	155054	genome.wustl.edu	37	7	148802201	148802201	+	Silent	SNP	G	G	A	rs202176145		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:148802201G>A	ENST00000378061.2	-	4	894	c.762C>T	c.(760-762)agC>agT	p.S254S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	254					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCAGGAAGTAGCTCTTCTCAC	0.582																																																	0													97.0	96.0	96.0					7																	148802201		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.762C>T	7.37:g.148802201G>A			B3KPM1|Q08AG3	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,pfscan_Krueppel-associated_box-rel	p.S254	ENST00000378061.2	37	c.762	CCDS34773.1	7																																																																																			ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.582	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0.00	47	0	G	XM_088140		148802201	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	silent	51.52	16	17	SNP	0.894	A
ZNF536	9745	genome.wustl.edu	37	19	31039199	31039199	+	Silent	SNP	T	T	G			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:31039199T>G	ENST00000355537.3	+	4	2820	c.2673T>G	c.(2671-2673)ccT>ccG	p.P891P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	891					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGACCTTCCTTCCAAAAGCA	0.527																																																	0													125.0	127.0	126.0					19																	31039199		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2673T>G	19.37:g.31039199T>G			A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P891	ENST00000355537.3	37	c.2673	CCDS32984.1	19																																																																																			ZNF536	-	NULL	ENSG00000198597		0.527	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0.00	40	0	T	NM_014717		31039199	+1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	silent	42.22	26	19	SNP	0.991	G
ZNF684	127396	genome.wustl.edu	37	1	41012489	41012489	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr1:41012489G>T	ENST00000372699.3	+	5	745	c.494G>T	c.(493-495)gGg>gTg	p.G165V	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AGTGAATGCGGGAAAGCCTTC	0.323																																																	0													38.0	41.0	40.0					1																	41012489		2201	4299	6500	SO:0001583	missense	0				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.494G>T	1.37:g.41012489G>T	ENSP00000361784:p.Gly165Val		Q2NKY4	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.G165V	ENST00000372699.3	37	c.494	CCDS454.1	1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982510	0.34942	.	.	ENSG00000117010	ENST00000372699	T	0.07567	3.18	4.05	3.09	0.35607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35970	N	0.002876	T	0.36744	0.0978	H	0.95328	3.655	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.47522	-0.9111	10	0.66056	D	0.02	.	10.6552	0.45671	0.0:0.0:0.8068:0.1932	.	165	Q5T5D7	ZN684_HUMAN	V	165	ENSP00000361784:G165V	ENSP00000361784:G165V	G	+	2	0	ZNF684	40785076	0.937000	0.31787	0.424000	0.26647	0.096000	0.18686	1.455000	0.35190	0.994000	0.38892	0.591000	0.81541	GGG	ZNF684	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000117010		0.323	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF684	HGNC	protein_coding	OTTHUMT00000019260.3	-	0.00	28	0	G	NM_152373		41012489	+1	tier1	-	no_errors	ENST00000372699	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.998	T
ZNF775	285971	genome.wustl.edu	37	7	150094126	150094126	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr7:150094126C>T	ENST00000329630.5	+	3	664	c.557C>T	c.(556-558)tCc>tTc	p.S186F		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S186Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACCCACTCCCGGCCCGCC	0.731																																																	1	Substitution - Missense(1)	lung(1)											7.0	10.0	9.0					7																	150094126		2059	4150	6209	SO:0001583	missense	0			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.557C>T	7.37:g.150094126C>T	ENSP00000330838:p.Ser186Phe		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S186F	ENST00000329630.5	37	c.557	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907351	0.33628	.	.	ENSG00000196456	ENST00000329630	T	0.61274	0.12	4.73	3.85	0.44370	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55130	0.1901	L	0.48935	1.535	0.09310	N	1	P	0.45011	0.848	P	0.46275	0.51	T	0.43327	-0.9398	8	.	.	.	.	10.5101	0.44857	0.0:0.9052:0.0:0.0948	.	186	Q96BV0	ZN775_HUMAN	F	186	ENSP00000330838:S186F	.	S	+	2	0	ZNF775	149725059	0.000000	0.05858	0.069000	0.20011	0.183000	0.23260	0.244000	0.18124	1.227000	0.43598	0.555000	0.69702	TCC	ZNF775	-	pfscan_Znf_C2H2	ENSG00000196456		0.731	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	-	0.00	13	0	C	NM_173680		150094126	+1	tier1	-	no_errors	ENST00000329630	ensembl	human	known	74_37	missense	46.15	7	6	SNP	0.165	T
ZNF804A	91752	genome.wustl.edu	37	2	185803450	185803450	+	Silent	SNP	T	T	C	rs376180864		TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr2:185803450T>C	ENST00000302277.6	+	4	3921	c.3327T>C	c.(3325-3327)gcT>gcC	p.A1109A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1109							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						acgctgcagctgctgcagctg	0.532																																																	0								T		0,4406		0,0,2203	51.0	58.0	55.0		3327	-6.8	0.4	2		55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF804A	NM_194250.1		0,2,6501	CC,CT,TT		0.0233,0.0,0.0154		1109/1210	185803450	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3327T>C	2.37:g.185803450T>C			A7E253|Q6ZN26	Silent	SNP	pfam_Znf_C2H2_jaz	p.A1109	ENST00000302277.6	37	c.3327	CCDS2291.1	2																																																																																			ZNF804A	-	NULL	ENSG00000170396		0.532	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0.00	21	0	T	NM_194250		185803450	+1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	silent	17.86	22	5	SNP	0.175	C
ZNF99	7652	genome.wustl.edu	37	19	22940886	22940886	+	Nonsense_Mutation	SNP	T	T	A			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr19:22940886T>A	ENST00000596209.1	-	4	1915	c.1825A>T	c.(1825-1827)Aga>Tga	p.R609*	ZNF99_ENST00000397104.3_Nonsense_Mutation_p.R518*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGATGTTTTCTAAGGGCTGAG	0.378																																																	0													37.0	42.0	40.0					19																	22940886		1975	4198	6173	SO:0001587	stop_gained	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1825A>T	19.37:g.22940886T>A	ENSP00000472969:p.Arg609*		M0R335	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.R518*	ENST00000596209.1	37	c.1552	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	t	18.09	3.545931	0.65198	.	.	ENSG00000213973	ENST00000397104	.	.	.	1.16	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.2703	0.26252	0.0:0.0:0.0:1.0	.	.	.	.	X	518	.	ENSP00000380293:R518X	R	-	1	2	ZNF99	22732726	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-4.245000	0.00267	0.501000	0.28013	0.163000	0.16589	AGA	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0.00	57	0	T	XM_065124		22940886	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	nonsense	31.43	48	22	SNP	0.020	A
ZSCAN9	7746	genome.wustl.edu	37	6	28195038	28195038	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WG-01A-11D-A37C-09	TCGA-R6-A8WG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	953942ba-2e1d-4b5b-9cd8-65cb545a9fd1	cc398bf5-3f02-4e56-9433-4658701389fe	g.chr6:28195038G>T	ENST00000252207.5	+	2	324	c.176G>T	c.(175-177)tGc>tTc	p.C59F	ZSCAN9_ENST00000531981.1_Missense_Mutation_p.C59F|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.C59F|ZSCAN9_ENST00000527436.1_Missense_Mutation_p.C59F|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.C59F	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	59	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)										CGACAGCTGTGCTACCAAGAG	0.502																																																	0													76.0	71.0	72.0					6																	28195038		2203	4300	6503	SO:0001583	missense	0			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.176G>T	6.37:g.28195038G>T	ENSP00000252207:p.Cys59Phe		B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C59F	ENST00000252207.5	37	c.176	CCDS4646.1	6	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438755	0.43326	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	3.07	2.18	0.27775	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.11665	0.0284	H	0.95114	3.625	0.27494	N	0.952191	D;D	0.65815	0.995;0.995	D;D	0.78314	0.991;0.96	T	0.35375	-0.9791	9	0.10111	T	0.7	.	8.1308	0.31027	0.0:0.2494:0.7506:0.0	.	59;59	E7EVQ2;O15535	.;ZN193_HUMAN	F	59	ENSP00000404074:C59F;ENSP00000252207:C59F;ENSP00000433402:C59F;ENSP00000433468:C59F;ENSP00000436166:C59F	ENSP00000252207:C59F	C	+	2	0	ZNF193	28303017	0.362000	0.24980	0.822000	0.32727	0.778000	0.44026	3.119000	0.50422	0.825000	0.34637	0.561000	0.74099	TGC	ZSCAN9	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000137185		0.502	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZSCAN9	HGNC	protein_coding	OTTHUMT00000040183.2	-	0.00	38	0	G	NM_006299		28195038	+1	tier1	-	no_errors	ENST00000252207	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.854	T
