#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
A2M	2	genome.wustl.edu	37	12	9229971	9229971	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:9229971C>T	ENST00000318602.7	-	27	3629	c.3322G>A	c.(3322-3324)Gcc>Acc	p.A1108T	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1108					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCCAGAAGGGCGATGGTGATA	0.468																																																	0													96.0	99.0	98.0					12																	9229971		2184	4299	6483	SO:0001583	missense	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3322G>A	12.37:g.9229971C>T	ENSP00000323929:p.Ala1108Thr		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.A1108T	ENST00000318602.7	37	c.3322	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289819	0.59976	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.57273	0.41	5.86	4.97	0.65823	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.057170	0.64402	D	0.000003	T	0.77651	0.4162	M	0.90309	3.105	0.35560	D	0.804613	D	0.76494	0.999	D	0.77004	0.989	D	0.87389	0.2362	10	0.87932	D	0	.	16.0445	0.80711	0.1356:0.8644:0.0:0.0	.	1108	P01023	A2MG_HUMAN	T	1108;1123	ENSP00000323929:A1108T	ENSP00000323929:A1108T	A	-	1	0	A2M	9121238	0.994000	0.37717	0.996000	0.52242	0.189000	0.23516	3.186000	0.50942	1.476000	0.48215	0.585000	0.79938	GCC	A2M	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000175899		0.468	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	-	0.00	40	0	C	NM_000014		9229971	-1	tier1	-	no_errors	ENST00000318602	ensembl	human	known	74_37	missense	39.53	26	17	SNP	0.996	T
ABCA5	23461	genome.wustl.edu	37	17	67300826	67300827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:67300826_67300827insG	ENST00000392676.3	-	7	977_978	c.913_914insC	c.(913-915)cttfs	p.L305fs	ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.L305fs|ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.L305fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	305					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TAATCCATAAAGGAAAAAAAGC	0.302																																																	0																																										SO:0001589	frameshift_variant	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.914dupC	17.37:g.67300828_67300828dupG	ENSP00000376443:p.Leu305fs		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L305fs	ENST00000392676.3	37	c.914_913	CCDS11685.1	17																																																																																			ABCA5	-	NULL	ENSG00000154265		0.302	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1		0.00	85	0	-	NM_018672		67300827	-1	tier1		no_errors	ENST00000392677	ensembl	human	known	74_37	frame_shift_ins	14.58	41	7	INS	0.997:1.000	G
ABCB11	8647	genome.wustl.edu	37	2	169869892	169869892	+	Nonsense_Mutation	SNP	G	G	T	rs375137002		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:169869892G>T	ENST00000263817.6	-	5	403	c.279C>A	c.(277-279)taC>taA	p.Y93*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	93	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|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)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACTCAACGTCGTAGTCAATAA	0.428																																																	0													208.0	197.0	200.0					2																	169869892		1894	4139	6033	SO:0001587	stop_gained	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.279C>A	2.37:g.169869892G>T	ENSP00000263817:p.Tyr93*		Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Y93*	ENST00000263817.6	37	c.279	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906665	0.72868	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.41	3.02	0.34903	.	0.055478	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.051	0.42216	0.8618:0.0:0.1382:0.0	.	.	.	.	X	93	.	ENSP00000263817:Y93X	Y	-	3	2	ABCB11	169578138	0.992000	0.36948	0.724000	0.30704	0.279000	0.26890	0.499000	0.22546	0.344000	0.23847	-1.472000	0.01007	TAC	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000073734		0.428	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	-	0.00	37	0	G	NM_003742		169869892	-1	tier1	-	no_errors	ENST00000263817	ensembl	human	known	74_37	nonsense	34.62	17	9	SNP	1.000	T
ACTA1	58	genome.wustl.edu	37	1	229568159	229568159	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:229568159G>A	ENST00000366684.3	-	4	576	c.474C>T	c.(472-474)ggC>ggT	p.G158G	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	158					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGACGCCGTCGCCGGAGTCCA	0.711																																																	0													30.0	29.0	30.0					1																	229568159		2202	4298	6500	SO:0001819	synonymous_variant	0			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.474C>T	1.37:g.229568159G>A			P02568|P99020|Q5T8M9	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.G158	ENST00000366684.3	37	c.474	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000143632		0.711	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1		0.00	57	0	G	NM_001100		229568159	-1			no_errors	ENST00000366684	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.707	A
ADAMTS3	9508	genome.wustl.edu	37	4	73414399	73414399	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:73414399T>G	ENST00000286657.4	-	3	336	c.300A>C	c.(298-300)caA>caC	p.Q100H	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	100					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCTACTAGTTGAGTGTTGG	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)												0													127.0	124.0	125.0					4																	73414399		2203	4300	6503	SO:0001583	missense	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.300A>C	4.37:g.73414399T>G	ENSP00000286657:p.Gln100His		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.Q100H	ENST00000286657.4	37	c.300	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616354	0.28801	.	.	ENSG00000156140	ENST00000286657	T	0.05855	3.38	5.22	-4.99	0.03010	Peptidase M12B, propeptide (1);	0.189903	0.31989	N	0.006753	T	0.02083	0.0065	N	0.05306	-0.075	0.23862	N	0.996636	B	0.02656	0.0	B	0.06405	0.002	T	0.32481	-0.9905	10	0.32370	T	0.25	.	4.4977	0.11848	0.0929:0.461:0.1948:0.2512	.	100	O15072	ATS3_HUMAN	H	100	ENSP00000286657:Q100H	ENSP00000286657:Q100H	Q	-	3	2	ADAMTS3	73633263	0.478000	0.25917	0.209000	0.23619	0.966000	0.64601	-0.229000	0.09098	-1.008000	0.03404	-0.427000	0.05922	CAA	ADAMTS3	-	pfam_Peptidase_M12B_N	ENSG00000156140		0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	-	0.00	83	0	T			73414399	-1	tier1	-	no_errors	ENST00000286657	ensembl	human	known	74_37	missense	46.30	29	25	SNP	0.658	G
ADCY4	196883	genome.wustl.edu	37	14	24802185	24802185	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:24802185A>G	ENST00000310677.4	-	3	282	c.169T>C	c.(169-171)Tca>Cca	p.S57P	RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.L123P|ADCY4_ENST00000418030.2_Missense_Mutation_p.S57P|ADCY4_ENST00000554068.2_Missense_Mutation_p.S57P|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	57					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTCGGGTCTGAGGTCAGCTCC	0.647											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													26.0	34.0	32.0					14																	24802185		2203	4300	6503	SO:0001583	missense	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.169T>C	14.37:g.24802185A>G	ENSP00000312126:p.Ser57Pro	774	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S57P	ENST00000310677.4	37	c.169	CCDS9627.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.23|15.23	2.772147|2.772147	0.49680|0.49680	.|.	.|.	ENSG00000258973|ENSG00000129467	ENST00000555591|ENST00000310677;ENST00000554068;ENST00000418030	.|T;T;T	.|0.76709	.|-1.04;-1.04;-1.04	5.93|5.93	2.15|2.15	0.27550|0.27550	.|.	.|0.571798	.|0.14699	.|N	.|0.303661	T|T	0.78842|0.78842	0.4347|0.4347	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;B	.|0.64830	.|0.994;0.023	.|D;B	.|0.66847	.|0.947;0.075	T|T	0.71283|0.71283	-0.4639|-0.4639	5|10	.|0.31617	.|T	.|0.26	.|.	11.4547|11.4547	0.50173|0.50173	0.5496:0.4504:0.0:0.0|0.5496:0.4504:0.0:0.0	.|.	.|57;57	.|G3V258;Q8NFM4	.|.;ADCY4_HUMAN	P|P	123|57	.|ENSP00000312126:S57P;ENSP00000452250:S57P;ENSP00000393177:S57P	.|ENSP00000312126:S57P	L|S	-|-	2|1	0|0	RP11-934B9.3|ADCY4	23872025|23872025	0.674000|0.674000	0.27549|0.27549	0.724000|0.724000	0.30704|0.30704	0.965000|0.965000	0.64279|0.64279	1.249000|1.249000	0.32839|0.32839	0.113000|0.113000	0.18004|0.18004	-0.478000|-0.478000	0.04885|0.04885	CTC|TCA	ADCY4	-	NULL	ENSG00000129467		0.647	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	-	0.00	48	0	A			24802185	-1	tier1	-	no_errors	ENST00000310677	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.836	G
AHCY	191	genome.wustl.edu	37	20	32868859	32868859	+	Missense_Mutation	SNP	G	G	A	rs377090568		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:32868859G>A	ENST00000217426.2	-	10	1357	c.1280C>T	c.(1279-1281)cCg>cTg	p.P427L	AHCY_ENST00000538132.1_Missense_Mutation_p.P399L|RP4-785G19.5_ENST00000512005.1_RNA|CTD-3216D2.5_ENST00000609218.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	427					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTAGTGATCCGGCTTGAAGGG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20290	0.0		0.0	False		,,,				2504	0.0																0								G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	62.0	51.0	55.0		1280,1196	4.8	1.0	20		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AHCY	NM_000687.2,NM_001161766.1	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	427/433,399/405	32868859	1,13005	2203	4300	6503	SO:0001583	missense	0			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1280C>T	20.37:g.32868859G>A	ENSP00000217426:p.Pro427Leu		A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.P427L	ENST00000217426.2	37	c.1280	CCDS13233.1	20	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626149	0.66901	0.0	1.16E-4	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.77620	-1.11;-1.11	4.8	4.8	0.61643	.	0.099681	0.64402	D	0.000001	T	0.80654	0.4664	M	0.83223	2.63	0.80722	D	1	B	0.33477	0.413	B	0.32583	0.148	T	0.83115	-0.0121	10	0.62326	D	0.03	.	18.4153	0.90567	0.0:0.0:1.0:0.0	.	427	P23526	SAHH_HUMAN	L	427;399	ENSP00000217426:P427L;ENSP00000442820:P399L	ENSP00000217426:P427L	P	-	2	0	AHCY	32332520	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.579000	0.98204	2.670000	0.90874	0.655000	0.94253	CCG	AHCY	-	pfam_Adenosylhomocysteinase	ENSG00000101444		0.582	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCY	HGNC	protein_coding	OTTHUMT00000078773.2	-	0.00	31	0	G	NM_000687		32868859	-1	tier1	-	no_errors	ENST00000217426	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	A
AIM2	9447	genome.wustl.edu	37	1	159036018	159036018	+	Silent	SNP	C	C	T	rs545837561	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:159036018C>T	ENST00000368130.4	-	4	786	c.498G>A	c.(496-498)acG>acA	p.T166T	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	166	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GGGTCTCAAACGTGAAGGGCT	0.428													C|||	2	0.000399361	0.0	0.0	5008	,	,		17509	0.0		0.0	False		,,,				2504	0.002																0													93.0	95.0	94.0					1																	159036018		2203	4300	6503	SO:0001819	synonymous_variant	0			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.498G>A	1.37:g.159036018C>T			A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x	p.T166	ENST00000368130.4	37	c.498	CCDS1181.1	1																																																																																			AIM2	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163568		0.428	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	HGNC	protein_coding	OTTHUMT00000090341.1	-	0.00	41	0	C	NM_004833		159036018	-1	tier1	-	no_errors	ENST00000368130	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.001	T
AKT2	208	genome.wustl.edu	37	19	40746174	40746174	+	Intron	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:40746174G>A	ENST00000392038.2	-	7	872				AKT2_ENST00000424901.1_Intron|AKT2_ENST00000579047.1_Intron|AKT2_ENST00000311278.6_Intron	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2						activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CAAACCCTCAGCAAATAGCAG	0.498			A		"""ovarian, pancreatic """																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0																																										SO:0001627	intron_variant	0			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.574-157C>T	19.37:g.40746174G>A			B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	RNA	SNP	-	NULL	ENST00000392038.2	37	NULL	CCDS12552.1	19																																																																																			AKT2	-	-	ENSG00000105221		0.498	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	-	0.00	30	0	G	NM_001626		40746174	-1	tier1	-	no_errors	ENST00000391845	ensembl	human	known	74_37	rna	6.67	56	4	SNP	0.000	A
ALG6	29929	genome.wustl.edu	37	1	63867955	63867955	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:63867955G>A	ENST00000371108.4	+	4	503	c.198G>A	c.(196-198)caG>caA	p.Q66Q	ALG6_ENST00000263440.4_Silent_p.Q66Q	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	66					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACAATTTACAGTATTGGGGAT	0.308																																																	0													117.0	117.0	117.0					1																	63867955		2203	4299	6502	SO:0001819	synonymous_variant	0			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.198G>A	1.37:g.63867955G>A			B3KMU2|Q5SXR9|Q9H3I0	Silent	SNP	pfam_Glyco_trans_ALG6/ALG8	p.Q66	ENST00000371108.4	37	c.198	CCDS30735.1	1																																																																																			ALG6	-	pfam_Glyco_trans_ALG6/ALG8	ENSG00000088035		0.308	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	-	0.00	71	0	G	NM_013339		63867955	+1	tier1	-	no_errors	ENST00000371108	ensembl	human	known	74_37	silent	25.00	39	13	SNP	1.000	A
ANK2	287	genome.wustl.edu	37	4	114262870	114262870	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:114262870T>A	ENST00000357077.4	+	33	3973	c.3920T>A	c.(3919-3921)aTc>aAc	p.I1307N	ANK2_ENST00000394537.3_Missense_Mutation_p.I1307N|ANK2_ENST00000506722.1_Missense_Mutation_p.I1298N|ANK2_ENST00000509550.1_Missense_Mutation_p.I483N|ANK2_ENST00000510275.2_5'Flank|ANK2_ENST00000264366.6_Missense_Mutation_p.I1274N|ANK2_ENST00000504887.1_3'UTR	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1307	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTCGACAGATCCAGGAATCC	0.338																																																	0													129.0	132.0	131.0					4																	114262870		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3920T>A	4.37:g.114262870T>A	ENSP00000349588:p.Ile1307Asn		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.I1307N	ENST00000357077.4	37	c.3920	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.97|17.97	3.517658|3.517658	0.64634|0.64634	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T	.|0.75050	.|-0.9;-0.9;-0.9;-0.9;1.62;1.62;-0.9	5.55|5.55	3.13|3.13	0.36017|0.36017	.|.	.|0.361046	.|0.22910	.|N	.|0.054144	T|T	0.79161|0.79161	0.4399|0.4399	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;P	.|0.47484	.|0.514;0.82;0.868;0.896;0.811;0.887	.|B;P;B;P;P;P	.|0.53450	.|0.199;0.467;0.381;0.66;0.726;0.595	T|T	0.77781|0.77781	-0.2459|-0.2459	5|10	.|0.87932	.|D	.|0	.|.	8.7464|8.7464	0.34589|0.34589	0.0:0.2354:0.0:0.7646|0.0:0.2354:0.0:0.7646	.|.	.|483;1274;319;1307;1307;1298	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;ANK2_HUMAN;.;.;.;.	E|N	319;1|1220;1298;353;1322;1307;1307;1274;1298;483	.|ENSP00000421011:I1220N;ENSP00000421067:I1298N;ENSP00000424722:I1322N;ENSP00000378044:I1307N;ENSP00000349588:I1307N;ENSP00000264366:I1274N;ENSP00000426944:I483N	.|ENSP00000264366:I1274N	D|I	+|+	3|2	2|0	ANK2|ANK2	114482319|114482319	0.234000|0.234000	0.23783|0.23783	0.994000|0.994000	0.49952|0.49952	0.969000|0.969000	0.65631|0.65631	0.560000|0.560000	0.23500|0.23500	0.406000|0.406000	0.25560|0.25560	0.402000|0.402000	0.26972|0.26972	GAT|ATC	ANK2	-	NULL	ENSG00000145362		0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0.00	62	0	T	NM_001148		114262870	+1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.978	A
ANKRD20A4	728747	genome.wustl.edu	37	9	69423721	69423721	+	Missense_Mutation	SNP	G	G	A	rs201112034		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:69423721G>A	ENST00000357336.3	+	15	2298	c.2017G>A	c.(2017-2019)Gcc>Acc	p.A673T		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	673										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TAAATTCAATGCCTTAAAAGA	0.333																																																	0													1.0	1.0	1.0					9																	69423721		267	802	1069	SO:0001583	missense	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.2017G>A	9.37:g.69423721G>A	ENSP00000349891:p.Ala673Thr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A673T	ENST00000357336.3	37	c.2017	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	G	2.328	-0.354086	0.05173	.	.	ENSG00000172014	ENST00000357336	T	0.13657	2.57	2.26	2.26	0.28386	.	.	.	.	.	T	0.02494	0.0076	N	0.00347	-1.61	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.43114	-0.9411	9	0.02654	T	1	.	5.6291	0.17499	0.8457:0.0:0.1543:0.0	.	673	Q4UJ75	A20A4_HUMAN	T	673	ENSP00000349891:A673T	ENSP00000349891:A673T	A	+	1	0	ANKRD20A4	68713541	0.045000	0.20229	0.014000	0.15608	0.011000	0.07611	0.690000	0.25451	0.124000	0.18369	-1.451000	0.01035	GCC	ANKRD20A4	-	NULL	ENSG00000172014		0.333	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	-	0.00	22	0	G	NM_001098805		69423721	+1	tier1	rs201112034	no_errors	ENST00000357336	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.763	A
ANKRD50	57182	genome.wustl.edu	37	4	125591791	125591791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:125591791G>A	ENST00000504087.1	-	4	3678	c.2641C>T	c.(2641-2643)Cga>Tga	p.R881*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R702*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	881										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAAGGGATTCGTCCATCATTG	0.378																																																	0													157.0	154.0	155.0					4																	125591791		2203	4300	6503	SO:0001587	stop_gained	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2641C>T	4.37:g.125591791G>A	ENSP00000425658:p.Arg881*		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R881*	ENST00000504087.1	37	c.2641	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	G	47	13.723955	0.99759	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.41	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	14.2518	0.66026	0.0:0.0:0.7053:0.2947	.	.	.	.	X	881;702	.	ENSP00000425658:R881X	R	-	1	2	ANKRD50	125811241	1.000000	0.71417	0.105000	0.21289	0.991000	0.79684	3.120000	0.50430	1.461000	0.47929	0.561000	0.74099	CGA	ANKRD50	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151458		0.378	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	-	0.00	49	0	G	NM_020337		125591791	-1	tier1	-	no_errors	ENST00000504087	ensembl	human	known	74_37	nonsense	27.27	16	6	SNP	0.901	A
APOB	338	genome.wustl.edu	37	2	21235441	21235441	+	Silent	SNP	C	C	T	rs376103623		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:21235441C>T	ENST00000233242.1	-	26	4426	c.4299G>A	c.(4297-4299)tcG>tcA	p.S1433S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1433					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)					ATTTGATATTCGAATCTAGAA	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		21052	0.0		0.0	False		,,,				2504	0.001																0								C		0,4404		0,0,2202	84.0	89.0	87.0		4299	-1.6	0.7	2		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1433/4564	21235441	1,13003	2202	4300	6502	SO:0001819	synonymous_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.4299G>A	2.37:g.21235441C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	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.S1433	ENST00000233242.1	37	c.4299	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0.00	52	0	C			21235441	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	39.29	34	22	SNP	0.602	T
AOX2P	344454	genome.wustl.edu	37	2	201635343	201635343	+	RNA	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:201635343C>T	ENST00000467645.1	+	0	444					NR_001557.4				aldehyde oxidase 2 pseudogene																		GAAACGAGCACAGCAACAGTG	0.478																																																	0																																												0			AI187776		2q33.2	2013-09-26	2008-05-22	2008-05-22	ENSG00000243478	ENSG00000243478			18450	pseudogene	pseudogene			"""aldehyde oxidase 2"""	AOX2		11562361	Standard	NR_001557		Approved	AOH2	uc031rqn.1		OTTHUMG00000154538		2.37:g.201635343C>T				RNA	SNP	-	NULL	ENST00000467645.1	37	NULL		2																																																																																			AOX2P	-	-	ENSG00000243478		0.478	AOX2P-001	KNOWN	basic	processed_transcript	AOX2P	HGNC	pseudogene	OTTHUMT00000335853.4	-	0.00	54	0	C	NR_001557		201635343	+1	tier1	-	no_errors	ENST00000467645	ensembl	human	known	74_37	rna	69.05	13	29	SNP	1.000	T
AQP8	343	genome.wustl.edu	37	16	25228712	25228712	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:25228712C>T	ENST00000219660.5	+	2	331	c.206C>T	c.(205-207)gCc>gTc	p.A69V	AQP8_ENST00000566125.1_Missense_Mutation_p.A63V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	69					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CTGCAGCCGGCCCTGGCCCAC	0.607																																																	0													112.0	120.0	118.0					16																	25228712		2197	4300	6497	SO:0001583	missense	0			BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.206C>T	16.37:g.25228712C>T	ENSP00000219660:p.Ala69Val		Q8IUU3|Q9UIA4	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP	p.A69V	ENST00000219660.5	37	c.206	CCDS10626.1	16	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885324	0.91814	.	.	ENSG00000103375	ENST00000219660	D	0.89617	-2.54	5.52	5.52	0.82312	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96690	0.9510	10	0.87932	D	0	-18.5842	18.0064	0.89211	0.0:1.0:0.0:0.0	.	69	O94778	AQP8_HUMAN	V	69	ENSP00000219660:A69V	ENSP00000219660:A69V	A	+	2	0	AQP8	25136213	1.000000	0.71417	0.919000	0.36401	0.517000	0.34286	7.316000	0.79007	2.595000	0.87683	0.555000	0.69702	GCC	AQP8	-	pfam_MIP,superfamily_Aquaporin-like	ENSG00000103375		0.607	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP8	HGNC	protein_coding	OTTHUMT00000214102.2	-	0.00	63	0	C	NM_001169		25228712	+1	tier1	-	no_errors	ENST00000219660	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
ARF5	381	genome.wustl.edu	37	7	127231308	127231308	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:127231308G>A	ENST00000000233.5	+	6	652	c.498G>A	c.(496-498)ctG>ctA	p.L166L	GCC1_ENST00000497650.1_Intron|FSCN3_ENST00000265825.5_5'Flank|FSCN3_ENST00000420086.2_5'Flank	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	166					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GCACAGGTCTGTACGATGGTC	0.577																																																	0													48.0	44.0	45.0					7																	127231308		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.498G>A	7.37:g.127231308G>A			P26437	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L166	ENST00000000233.5	37	c.498	CCDS34745.1	7																																																																																			ARF5	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type	ENSG00000004059		0.577	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF5	HGNC	protein_coding	OTTHUMT00000059567.2	-	0.00	50	0	G	NM_001662		127231308	+1	tier1	-	no_errors	ENST00000000233	ensembl	human	known	74_37	silent	11.11	31	4	SNP	0.984	A
ARHGAP30	257106	genome.wustl.edu	37	1	161022480	161022480	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:161022480G>T	ENST00000368013.3	-	7	1092	c.772C>A	c.(772-774)Cag>Aag	p.Q258K	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q258K|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.Q81K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	258					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCGCCAGCCTGCAGTATGCTA	0.622																																																	0													65.0	65.0	65.0					1																	161022480		2203	4300	6503	SO:0001583	missense	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.772C>A	1.37:g.161022480G>T	ENSP00000356992:p.Gln258Lys		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q258K	ENST00000368013.3	37	c.772	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149112	0.57151	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.33438	3.03;2.97;1.41	4.05	4.05	0.47172	.	0.308636	0.27816	N	0.017721	T	0.25568	0.0622	L	0.43152	1.355	0.37995	D	0.934047	P;P	0.48640	0.913;0.602	P;P	0.51918	0.684;0.491	T	0.04930	-1.0917	10	0.72032	D	0.01	.	11.6579	0.51328	0.0:0.0:1.0:0.0	.	258;258	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	K	258;258;110;81	ENSP00000356995:Q258K;ENSP00000356992:Q258K;ENSP00000356994:Q81K	ENSP00000356992:Q258K	Q	-	1	0	ARHGAP30	159289104	0.956000	0.32656	0.995000	0.50966	0.225000	0.24961	1.605000	0.36815	2.097000	0.63578	0.549000	0.68633	CAG	ARHGAP30	-	NULL	ENSG00000186517		0.622	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	-	0.00	62	0	G	NM_181720		161022480	-1	tier1	-	no_errors	ENST00000368013	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.999	T
ARMCX2	9823	genome.wustl.edu	37	X	100911645	100911645	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:100911645G>T	ENST00000328766.5	-	5	1383	c.930C>A	c.(928-930)ggC>ggA	p.G310G	ARMCX2_ENST00000330154.2_Silent_p.G310G|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Silent_p.G310G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	310						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CAGGACGGAAGCCCATCCCCA	0.597																																																	0													104.0	116.0	112.0					X																	100911645		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.930C>A	X.37:g.100911645G>T			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.G310	ENST00000328766.5	37	c.930	CCDS14490.1	X																																																																																			ARMCX2	-	NULL	ENSG00000184867		0.597	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	-	0.00	68	0	G	NM_014782		100911645	-1	tier1	-	no_errors	ENST00000328766	ensembl	human	known	74_37	silent	72.22	10	26	SNP	0.998	T
ARRB1	408	genome.wustl.edu	37	11	74977319	74977319	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:74977319C>T	ENST00000420843.2	-	16	1243		c.e16-1		ARRB1_ENST00000360025.3_Splice_Site|CTD-2562J17.9_ENST00000529304.1_RNA|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTCGTCATCACTGGTGGGAGA	0.542																																																	0													134.0	104.0	115.0					11																	74977319		2200	4293	6493	SO:0001630	splice_region_variant	0			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1146-1G>A	11.37:g.74977319C>T			B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	SNP	-	e16-1	ENST00000420843.2	37	c.1146-1	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722240	0.68959	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532447	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7292	0.62776	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARRB1	74654967	0.980000	0.34600	0.997000	0.53966	0.982000	0.71751	5.331000	0.65905	2.314000	0.78098	0.563000	0.77884	.	ARRB1	-	-	ENSG00000137486		0.542	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	-	0.00	37	0	C	NM_004041	Intron	74977319	-1	tier1	-	no_errors	ENST00000393505	ensembl	human	known	74_37	splice_site	45.71	19	16	SNP	0.981	T
ARRB1	408	genome.wustl.edu	37	11	74994330	74994330	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:74994330C>T	ENST00000420843.2	-	5	452		c.e5+1		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGTTCCTGACCTCAAAGGTG	0.632																																																	0													52.0	54.0	53.0					11																	74994330		2200	4293	6493	SO:0001630	splice_region_variant	0			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.354+1G>A	11.37:g.74994330C>T			B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	SNP	-	e5+1	ENST00000420843.2	37	c.354+1	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447207	0.63178	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	.	.	.	4.16	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0429	0.42169	0.0:0.899:0.0:0.101	.	.	.	.	.	-1	.	.	.	-	.	.	ARRB1	74671978	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	7.256000	0.78350	1.087000	0.41251	0.561000	0.74099	.	ARRB1	-	-	ENSG00000137486		0.632	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	-	0.00	29	0	C	NM_004041	Intron	74994330	-1	tier1	-	no_errors	ENST00000393505	ensembl	human	known	74_37	splice_site	30.30	23	10	SNP	1.000	T
ASXL2	55252	genome.wustl.edu	37	2	25994382	25994382	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:25994382C>A	ENST00000435504.4	-	6	724	c.431G>T	c.(430-432)tGc>tTc	p.C144F	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.C116F|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	144	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTGATGGGCAGCCTGACTG	0.438																																																	0													174.0	170.0	172.0					2																	25994382		2033	4184	6217	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.431G>T	2.37:g.25994382C>A	ENSP00000391447:p.Cys144Phe		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.C144F	ENST00000435504.4	37	c.431		2	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935560	0.52866	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.21543	2.0;2.0	5.66	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.47716	1.5	0.80722	D	1	P	0.45348	0.856	P	0.47786	0.557	T	0.03875	-1.0996	10	0.87932	D	0	-10.0933	15.5094	0.75769	0.0:0.8612:0.1388:0.0	.	144	Q76L83	ASXL2_HUMAN	F	144;116	ENSP00000391447:C144F;ENSP00000337250:C116F	ENSP00000337250:C116F	C	-	2	0	ASXL2	25847886	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.992000	0.70609	1.393000	0.46605	0.591000	0.81541	TGC	ASXL2	-	NULL	ENSG00000143970		0.438	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	-	0.00	63	0	C	NM_018263		25994382	-1	tier1	-	no_errors	ENST00000435504	ensembl	human	known	74_37	missense	16.00	84	16	SNP	1.000	A
ATP8A2	51761	genome.wustl.edu	37	13	26594034	26594034	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:26594034G>A	ENST00000381655.2	+	37	3620	c.3478G>A	c.(3478-3480)Gct>Act	p.A1160T	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A1095T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1120					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATGGGTATGCTTTTTCTCA	0.418																																																	0													109.0	102.0	105.0					13																	26594034		1917	4137	6054	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3478G>A	13.37:g.26594034G>A	ENSP00000371070:p.Ala1160Thr		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,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.A1160T	ENST00000381655.2	37	c.3478	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541224	0.85917	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.69926	0.17;-0.44	5.03	5.03	0.67393	.	0.127889	0.52532	D	0.000074	D	0.83594	0.5288	M	0.87900	2.915	0.43065	D	0.994692	D;D	0.76494	0.999;0.999	P;D	0.65010	0.899;0.931	D	0.86913	0.2062	10	0.87932	D	0	.	18.5629	0.91107	0.0:0.0:1.0:0.0	.	1095;1120	B7Z880;Q9NTI2	.;AT8A2_HUMAN	T	1160;1095;940	ENSP00000371070:A1160T;ENSP00000255283:A1095T	ENSP00000255283:A1095T	A	+	1	0	ATP8A2	25492034	1.000000	0.71417	0.973000	0.42090	0.930000	0.56654	6.910000	0.75741	2.625000	0.88918	0.555000	0.69702	GCT	ATP8A2	-	NULL	ENSG00000132932		0.418	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	-	0.00	41	0	G	NM_016529		26594034	+1	tier1	-	no_errors	ENST00000381655	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.998	A
ATP8B1	5205	genome.wustl.edu	37	18	55359150	55359150	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:55359150G>T	ENST00000283684.4	-	11	1108	c.1109C>A	c.(1108-1110)tCt>tAt	p.S370Y	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.S370Y|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	370					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S370F(2)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTACCAAGAGGAATTGCC	0.448																																																	2	Substitution - Missense(2)	lung(2)											134.0	114.0	120.0					18																	55359150		2203	4300	6503	SO:0001583	missense	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1109C>A	18.37:g.55359150G>T	ENSP00000283684:p.Ser370Tyr		Q9BTP8	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S370Y	ENST00000283684.4	37	c.1109	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642662	0.29246	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.89810	-2.57;-2.57	5.82	5.82	0.92795	ATPase, P-type, ATPase-associated domain (1);	0.220373	0.48286	N	0.000181	D	0.90082	0.6902	L	0.37750	1.13	0.54753	D	0.999984	D	0.67145	0.996	D	0.65573	0.936	D	0.84160	0.0428	10	0.02654	T	1	.	19.6904	0.95998	0.0:0.0:1.0:0.0	.	370	O43520	AT8B1_HUMAN	Y	370	ENSP00000283684:S370Y;ENSP00000445359:S370Y	ENSP00000283684:S370Y	S	-	2	0	ATP8B1	53510148	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	5.670000	0.68088	2.767000	0.95098	0.655000	0.94253	TCT	ATP8B1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.448	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1		0.00	46	0	G	NM_005603		55359150	-1			no_errors	ENST00000283684	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
ATRN	8455	genome.wustl.edu	37	20	3541331	3541331	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:3541331G>T	ENST00000262919.5	+	8	1294	c.1226G>T	c.(1225-1227)gGa>gTa	p.G409V	ATRN_ENST00000446916.2_Missense_Mutation_p.G409V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	409					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGTATGGAGGAAAAATTGAT	0.328																																																	0													92.0	82.0	85.0					20																	3541331		2203	4300	6503	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1226G>T	20.37:g.3541331G>T	ENSP00000262919:p.Gly409Val		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.G409V	ENST00000262919.5	37	c.1226	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	G	23.9	4.464987	0.84425	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	D;D	0.95622	-1.87;-3.76	5.1	5.1	0.69264	Kelch-type beta propeller (1);	0.113202	0.64402	D	0.000010	D	0.98432	0.9478	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99457	1.0942	10	0.87932	D	0	-10.2139	18.2867	0.90117	0.0:0.0:1.0:0.0	.	409;409	O75882;O75882-2	ATRN_HUMAN;.	V	409;409;335	ENSP00000262919:G409V;ENSP00000416587:G409V	ENSP00000262919:G409V	G	+	2	0	ATRN	3489331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.616000	0.98359	2.650000	0.89964	0.555000	0.69702	GGA	ATRN	-	NULL	ENSG00000088812		0.328	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	-	0.00	55	0	G	NM_139321		3541331	+1	tier1	-	no_errors	ENST00000262919	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
B4GALNT1	2583	genome.wustl.edu	37	12	58025827	58025827	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:58025827G>A	ENST00000341156.4	-	2	673	c.89C>T	c.(88-90)gCg>gTg	p.A30V	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A30V|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.A30V|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.A30V|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.A30V	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	30					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGGCCGGGCGCGTCCCGGGT	0.736																																																	0													4.0	6.0	6.0					12																	58025827		2067	4013	6080	SO:0001583	missense	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.89C>T	12.37:g.58025827G>A	ENSP00000341562:p.Ala30Val		B4DE26|Q8N636	Missense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.A30V	ENST00000341156.4	37	c.89	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	G	6.019	0.371815	0.11409	.	.	ENSG00000135454	ENST00000341156;ENST00000418555;ENST00000550764;ENST00000552350;ENST00000548888;ENST00000551220	T;T;T;T;T;T	0.46819	2.21;2.11;1.41;1.41;1.48;0.86	3.84	0.492	0.16872	.	1.042900	0.07580	N	0.920215	T	0.36799	0.0980	L	0.44542	1.39	0.09310	N	1	D;P;B;P;B	0.61080	0.989;0.593;0.203;0.944;0.203	P;B;B;B;B	0.46659	0.523;0.093;0.029;0.33;0.043	T	0.22068	-1.0227	10	0.15499	T	0.54	.	1.7789	0.03028	0.1222:0.1899:0.4634:0.2245	.	107;30;30;30;30	B7Z7U3;B4DSP5;B4DE26;Q8N636;Q00973	.;.;.;.;B4GN1_HUMAN	V	30	ENSP00000341562:A30V;ENSP00000401601:A30V;ENSP00000450303:A30V;ENSP00000448500:A30V;ENSP00000447945:A30V;ENSP00000446566:A30V	ENSP00000341562:A30V	A	-	2	0	B4GALNT1	56312094	0.000000	0.05858	0.528000	0.27938	0.067000	0.16453	0.625000	0.24477	0.283000	0.22279	-1.434000	0.01081	GCG	B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.736	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	-	0.00	51	0	G	NM_001478		58025827	-1	tier1	-	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	19.67	48	12	SNP	0.003	A
BACH1	571	genome.wustl.edu	37	21	30698924	30698924	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr21:30698924delA	ENST00000399921.1	+	3	1022	c.779delA	c.(778-780)gaafs	p.E260fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.E260fs	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAAAGGTCTGAAAATGAATGC	0.408																																																	0													44.0	46.0	45.0					21																	30698924		2203	4300	6503	SO:0001589	frameshift_variant	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.779delA	21.37:g.30698924delA	ENSP00000382805:p.Glu260fs		Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.N261fs	ENST00000399921.1	37	c.779	CCDS13585.1	21																																																																																			BACH1	-	NULL	ENSG00000156273		0.408	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1		0.00	33	0	A	NM_206866		30698924	+1	tier1		no_errors	ENST00000286800	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.056	-
BAI3	577	genome.wustl.edu	37	6	69684705	69684705	+	Silent	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:69684705A>C	ENST00000370598.1	+	9	2397	c.1576A>C	c.(1576-1578)Aga>Cga	p.R526R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	526					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTGTGGAAAAGAACTCCAGC	0.428																																																	0													115.0	110.0	112.0					6																	69684705		2203	4300	6503	SO:0001819	synonymous_variant	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1576A>C	6.37:g.69684705A>C			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R526	ENST00000370598.1	37	c.1576	CCDS4968.1	6																																																																																			BAI3	-	smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000135298		0.428	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0.00	60	0	A			69684705	+1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	50.00	7	7	SNP	1.000	C
BANK1	55024	genome.wustl.edu	37	4	102751177	102751177	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:102751177C>T	ENST00000322953.4	+	2	557	c.283C>T	c.(283-285)Cca>Tca	p.P95S	BANK1_ENST00000504592.1_Missense_Mutation_p.P80S|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.P65S	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	95	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGACCTAACTCCAAAGAAATG	0.353																																																	0													72.0	74.0	74.0					4																	102751177		2203	4300	6503	SO:0001583	missense	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.283C>T	4.37:g.102751177C>T	ENSP00000320509:p.Pro95Ser		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.P95S	ENST00000322953.4	37	c.283	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029631	0.54790	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.09163	3.01;3.01;3.01	5.18	2.5	0.30297	.	0.463335	0.18019	N	0.154307	T	0.22589	0.0545	L	0.61218	1.895	0.25602	N	0.98658	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.10245	-1.0638	10	0.56958	D	0.05	.	3.1596	0.06516	0.1279:0.4827:0.2423:0.1472	.	95;80	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	S	80;95;65	ENSP00000421443:P80S;ENSP00000320509:P95S;ENSP00000388817:P65S	ENSP00000320509:P95S	P	+	1	0	BANK1	102970200	0.035000	0.19736	0.989000	0.46669	0.997000	0.91878	1.073000	0.30691	0.196000	0.20367	0.650000	0.86243	CCA	BANK1	-	NULL	ENSG00000153064		0.353	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	-	0.00	39	0	C	NM_017935		102751177	+1	tier1	-	no_errors	ENST00000322953	ensembl	human	known	74_37	missense	50.00	15	15	SNP	0.448	T
BAZ2B	29994	genome.wustl.edu	37	2	160205671	160205671	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:160205671C>T	ENST00000392783.2	-	29	5479	c.4984G>A	c.(4984-4986)Gaa>Aaa	p.E1662K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1626K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1628K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1562K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1662					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCATTTCCTTCTGATAACCCT	0.428																																																	0													143.0	132.0	135.0					2																	160205671		1888	4118	6006	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4984G>A	2.37:g.160205671C>T	ENSP00000376534:p.Glu1662Lys		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	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,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,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.E1662K	ENST00000392783.2	37	c.4984	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581636	0.46006	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.59638	0.29;0.29;0.29;0.25	5.47	5.47	0.80525	.	0.000000	0.38058	U	0.001839	T	0.59569	0.2203	L	0.57536	1.79	0.50313	D	0.999862	P;P	0.52842	0.827;0.956	B;B	0.44133	0.442;0.275	T	0.59295	-0.7481	10	0.33940	T	0.23	-18.9064	19.6762	0.95934	0.0:1.0:0.0:0.0	.	1626;1662	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1626;1662;1628;1562	ENSP00000376533:E1626K;ENSP00000376534:E1662K;ENSP00000348087:E1628K;ENSP00000339670:E1562K	ENSP00000339670:E1562K	E	-	1	0	BAZ2B	159913917	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.317000	0.65822	2.729000	0.93468	0.591000	0.81541	GAA	BAZ2B	-	NULL	ENSG00000123636		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0.00	23	0	C			160205671	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	T
BMPR2	659	genome.wustl.edu	37	2	203383581	203383581	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:203383581G>A	ENST00000374580.4	+	6	1197	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	BMPR2_ENST00000374574.2_Missense_Mutation_p.G220S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGTATATAAAGGCTCCTTGGA	0.368																																																	0													95.0	88.0	90.0					2																	203383581		2203	4300	6503	SO:0001583	missense	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.658G>A	2.37:g.203383581G>A	ENSP00000363708:p.Gly220Ser		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G220S	ENST00000374580.4	37	c.658	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.781462	0.96929	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.94723	-3.5;-3.5	6.05	6.05	0.98169	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97779	0.9271	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	D	0.97710	1.0190	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	220;220	Q13161;Q13873	.;BMPR2_HUMAN	S	220	ENSP00000363708:G220S;ENSP00000363702:G220S	ENSP00000363702:G220S	G	+	1	0	BMPR2	203091826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.789000	0.99068	2.878000	0.98634	0.650000	0.86243	GGC	BMPR2	-	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	ENSG00000204217		0.368	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	-	0.00	65	0	G	NM_001204		203383581	+1	tier1	-	no_errors	ENST00000374580	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	A
BRINP1	1620	genome.wustl.edu	37	9	121930116	121930116	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:121930116C>T	ENST00000265922.3	-	8	1993	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	511					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGTGTCGAGGCGGATCTCGTT	0.562																																																	0													248.0	176.0	201.0					9																	121930116		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1532G>A	9.37:g.121930116C>T	ENSP00000265922:p.Arg511His		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R511H	ENST00000265922.3	37	c.1532	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637290	0.87760	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20881	2.04	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.33675	-0.9859	10	0.72032	D	0.01	-21.531	19.91	0.97023	0.0:1.0:0.0:0.0	.	511	O60477	DBC1_HUMAN	H	511	ENSP00000265922:R511H	ENSP00000265922:R511H	R	-	2	0	DBC1	120969937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.019000	0.70818	2.702000	0.92279	0.655000	0.94253	CGC	BRINP1	-	NULL	ENSG00000078725		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0.00	51	0	C	NM_014618		121930116	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	T
C14orf23	387978	genome.wustl.edu	37	14	29261230	29261230	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:29261230A>C	ENST00000399387.4	+	3	371	c.267A>C	c.(265-267)gaA>gaC	p.E89D	C14orf23_ENST00000550266.1_Intron|C14orf23_ENST00000548213.1_Intron					chromosome 14 open reading frame 23											central_nervous_system(1)	1						GGATCCAGGAAGAAAGGCATT	0.383																																																	0																																										SO:0001583	missense	0					14q11.2	2013-01-15			ENSG00000186960	ENSG00000186960			19828	other	unknown							Standard	NR_026731		Approved		uc001wqf.3	Q86U37	OTTHUMG00000029410	ENST00000399387.4:c.267A>C	14.37:g.29261230A>C	ENSP00000382318:p.Glu89Asp			Missense_Mutation	SNP	NULL	p.E89D	ENST00000399387.4	37	c.267		14	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210427	0.39003	.	.	ENSG00000186960	ENST00000399387	.	.	.	3.22	3.22	0.36961	.	.	.	.	.	T	0.27765	0.0683	.	.	.	0.23162	N	0.998195	B	0.28552	0.215	B	0.25759	0.063	T	0.12319	-1.0552	7	0.34782	T	0.22	.	8.0855	0.30769	1.0:0.0:0.0:0.0	.	89	Q86U37	CN023_HUMAN	D	89	.	ENSP00000382318:E89D	E	+	3	2	C14orf23	28330981	0.020000	0.18652	0.051000	0.19133	0.744000	0.42396	0.407000	0.21049	1.489000	0.48450	0.383000	0.25322	GAA	C14orf23	-	NULL	ENSG00000186960		0.383	C14orf23-003	KNOWN	basic|appris_candidate_longest	protein_coding	C14orf23	HGNC	protein_coding	OTTHUMT00000134019.2	-	0.00	70	0	A	NR_026731		29261230	+1	tier1	-	no_errors	ENST00000399387	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.021	C
REC114	283677	genome.wustl.edu	37	15	73843477	73843477	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:73843477C>T	ENST00000331090.6	+	4	560	c.532C>T	c.(532-534)Cca>Tca	p.P178S	C15orf60_ENST00000560581.1_Missense_Mutation_p.P150S	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		178					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						AAAGAGTGTCCCACGGCAGCC	0.507																																																	0													37.0	38.0	38.0					15																	73843477		1978	4176	6154	SO:0001583	missense	0																														ENST00000331090.6:c.532C>T	15.37:g.73843477C>T	ENSP00000328423:p.Pro178Ser			Missense_Mutation	SNP	NULL	p.P178S	ENST00000331090.6	37	c.532	CCDS45296.1	15	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433557	0.43224	.	.	ENSG00000183324	ENST00000331090	T	0.45668	0.89	5.25	2.07	0.26955	.	1.314060	0.04914	N	0.453662	T	0.44746	0.1308	L	0.60455	1.87	0.09310	N	1	D	0.59357	0.985	P	0.47827	0.558	T	0.25882	-1.0119	10	0.54805	T	0.06	-14.7971	3.4871	0.07624	0.3227:0.4508:0.1426:0.0839	.	178	Q7Z4M0	CO060_HUMAN	S	178	ENSP00000328423:P178S	ENSP00000328423:P178S	P	+	1	0	C15orf60	71630530	0.001000	0.12720	0.010000	0.14722	0.079000	0.17450	0.393000	0.20817	0.519000	0.28406	0.655000	0.94253	CCA	C15orf60	-	NULL	ENSG00000183324		0.507	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf60	HGNC	protein_coding	OTTHUMT00000419069.1	-	0.00	23	0	C			73843477	+1	tier1	-	no_errors	ENST00000331090	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.000	T
C19orf57	79173	genome.wustl.edu	37	19	14000750	14000750	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:14000750C>T	ENST00000586783.1	-	5	918	c.919G>A	c.(919-921)Ggc>Agc	p.G307S	C19orf57_ENST00000346736.2_Missense_Mutation_p.G307S|C19orf57_ENST00000454313.1_Missense_Mutation_p.G307S|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	307					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCAGGGGAGCCCTGGGCCACA	0.662																																																	0													21.0	22.0	21.0					19																	14000750		2203	4297	6500	SO:0001583	missense	0			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.919G>A	19.37:g.14000750C>T	ENSP00000465822:p.Gly307Ser		Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NULL	p.G307S	ENST00000586783.1	37	c.919		19	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825528	0.71143	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.45276	0.9;0.9	4.02	4.02	0.46733	.	0.745630	0.11051	N	0.605097	T	0.46776	0.1410	L	0.32530	0.975	0.09310	N	1	D;P	0.60160	0.987;0.939	P;P	0.56751	0.805;0.531	T	0.28038	-1.0056	10	0.33940	T	0.23	-2.6674	11.9944	0.53194	0.0:1.0:0.0:0.0	.	307;307	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	S	307	ENSP00000404382:G307S;ENSP00000254336:G307S	ENSP00000254336:G307S	G	-	1	0	C19orf57	13861750	0.012000	0.17670	0.002000	0.10522	0.371000	0.29859	1.857000	0.39399	1.937000	0.56155	0.313000	0.20887	GGC	C19orf57	-	NULL	ENSG00000132016		0.662	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	-	0.00	54	0	C	NM_024323		14000750	-1	tier1	-	no_errors	ENST00000454313	ensembl	human	known	74_37	missense	24.07	41	13	SNP	0.005	T
CFAP61	26074	genome.wustl.edu	37	20	20180504	20180504	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:20180504G>T	ENST00000245957.5	+	17	1966	c.1890G>T	c.(1888-1890)aaG>aaT	p.K630N	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		630										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCTGGAAAAGCTTGGCATAA	0.607																																																	0													139.0	125.0	130.0					20																	20180504		2203	4300	6503	SO:0001583	missense	0																														ENST00000245957.5:c.1890G>T	20.37:g.20180504G>T	ENSP00000245957:p.Lys630Asn		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.K630N	ENST00000245957.5	37	c.1890	CCDS33447.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.568445|2.568445	0.45798|0.45798	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957|ENST00000431753	T|.	0.48836|.	0.8|.	5.57|5.57	4.6|4.6	0.57074|0.57074	.|.	0.193168|.	0.45361|.	N|.	0.000364|.	T|T	0.54806|0.54806	0.1881|0.1881	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;B|.	0.26445|.	0.149;0.01|.	B;B|.	0.29440|.	0.102;0.016|.	T|T	0.51466|0.51466	-0.8702|-0.8702	10|5	0.29301|.	T|.	0.29|.	.|.	8.4432|8.4432	0.32826|0.32826	0.1171:0.0:0.7453:0.1376|0.1171:0.0:0.7453:0.1376	.|.	610;630|.	F8W6K4;Q8NHU2|.	.;CT026_HUMAN|.	N|I	570;198;610;630|170	ENSP00000245957:K630N|.	ENSP00000245957:K630N|.	K|S	+|+	3|2	2|0	C20orf26|C20orf26	20128504|20128504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.296000|4.296000	0.59055|0.59055	1.296000|1.296000	0.44742|0.44742	0.563000|0.563000	0.77884|0.77884	AAG|AGC	C20orf26	-	NULL	ENSG00000089101		0.607	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	-	0.00	34	0	G			20180504	+1	tier1	-	no_errors	ENST00000245957	ensembl	human	known	74_37	missense	54.76	19	23	SNP	1.000	T
C5orf42	65250	genome.wustl.edu	37	5	37206493	37206493	+	Silent	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:37206493A>G	ENST00000508244.1	-	16	3048	c.2955T>C	c.(2953-2955)tcT>tcC	p.S985S	C5orf42_ENST00000425232.2_Silent_p.S985S|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	985						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGCCACCTTAGAGTGTTGCA	0.398																																																	0													100.0	81.0	87.0					5																	37206493		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2955T>C	5.37:g.37206493A>G			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.S985	ENST00000508244.1	37	c.2955	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.398	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0.00	53	0	A	NM_023073		37206493	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	silent	15.28	61	11	SNP	0.901	G
CACNA2D4	93589	genome.wustl.edu	37	12	1993483	1993483	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:1993483C>T	ENST00000382722.5	-	12	1639	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.R362Q|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.R362Q|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.R426Q|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.R426Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	426	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGTGAAAACTCGGACCTAACC	0.478																																					Colon(2;101 179 21030 23310 28141)												0													78.0	85.0	82.0					12																	1993483		2017	4193	6210	SO:0001583	missense	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1277G>A	12.37:g.1993483C>T	ENSP00000372169:p.Arg426Gln		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R426Q	ENST00000382722.5	37	c.1277	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.206269	0.95033	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.09163	3.01	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.90082	3.085	0.80722	D	1	D	0.69078	0.997	P	0.59424	0.857	T	0.50118	-0.8865	10	0.87932	D	0	.	18.4934	0.90855	0.0:1.0:0.0:0.0	.	426	Q7Z3S7	CA2D4_HUMAN	Q	362;426;426	ENSP00000372169:R426Q	ENSP00000280663:R426Q	R	-	2	0	CACNA2D4	1863744	1.000000	0.71417	0.834000	0.33040	0.831000	0.47069	7.780000	0.85658	2.463000	0.83235	0.603000	0.83216	CGA	CACNA2D4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151062		0.478	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	-	0.00	38	0	C			1993483	-1	tier1	-	no_errors	ENST00000382722	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T
CAMTA1	23261	genome.wustl.edu	37	1	7700576	7700576	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:7700576G>T	ENST00000303635.7	+	7	834	c.627G>T	c.(625-627)tgG>tgT	p.W209C	CAMTA1_ENST00000439411.2_Missense_Mutation_p.W209C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGCGAAATGGACGAAAGAAG	0.632			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													159.0	127.0	138.0					1																	7700576		2203	4300	6503	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.627G>T	1.37:g.7700576G>T	ENSP00000306522:p.Trp209Cys		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.W209C	ENST00000303635.7	37	c.627	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032861	0.75504	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.38887	1.11;1.11	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59231	-0.7493	10	0.72032	D	0.01	-10.4182	19.0961	0.93251	0.0:0.0:1.0:0.0	.	209	Q9Y6Y1	CMTA1_HUMAN	C	209	ENSP00000306522:W209C;ENSP00000402561:W209C	ENSP00000306522:W209C	W	+	3	0	CAMTA1	7623163	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	9.764000	0.98949	2.506000	0.84524	0.462000	0.41574	TGG	CAMTA1	-	NULL	ENSG00000171735		0.632	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3		0.00	45	0	G	NM_015215		7700576	+1			no_errors	ENST00000303635	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
CAMTA1	23261	genome.wustl.edu	37	1	7700578	7700578	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:7700578C>T	ENST00000303635.7	+	7	836	c.629C>T	c.(628-630)aCg>aTg	p.T210M	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T210M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGAAATGGACGAAAGAAGAG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													157.0	125.0	136.0					1																	7700578		2203	4300	6503	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.629C>T	1.37:g.7700578C>T	ENSP00000306522:p.Thr210Met		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.T210M	ENST00000303635.7	37	c.629	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268486	0.80469	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.27890	1.65;1.64	5.36	5.36	0.76844	.	0.058220	0.64402	D	0.000002	T	0.41880	0.1178	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.50415	-0.8831	10	0.87932	D	0	-13.1403	19.0961	0.93251	0.0:1.0:0.0:0.0	.	210	Q9Y6Y1	CMTA1_HUMAN	M	210	ENSP00000306522:T210M;ENSP00000402561:T210M	ENSP00000306522:T210M	T	+	2	0	CAMTA1	7623165	1.000000	0.71417	0.936000	0.37596	0.532000	0.34746	4.837000	0.62796	2.506000	0.84524	0.462000	0.41574	ACG	CAMTA1	-	NULL	ENSG00000171735		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	-	0.00	46	0	C	NM_015215		7700578	+1	tier1	-	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T
CASQ2	845	genome.wustl.edu	37	1	116283355	116283355	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:116283355G>T	ENST00000261448.5	-	3	653	c.414C>A	c.(412-414)ctC>ctA	p.L138L	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	138					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTACATCCAAGAGGAACTCCA	0.443																																																	0													113.0	94.0	101.0					1																	116283355		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.414C>A	1.37:g.116283355G>T			B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Silent	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.L138	ENST00000261448.5	37	c.414	CCDS884.1	1																																																																																			CASQ2	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000118729		0.443	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	HGNC	protein_coding	OTTHUMT00000033091.1	-	0.00	49	0	G	NM_001232		116283355	-1	tier1	-	no_errors	ENST00000261448	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.935	T
CCDC114	93233	genome.wustl.edu	37	19	48821779	48821779	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:48821779G>A	ENST00000315396.7	-	3	796	c.114C>T	c.(112-114)agC>agT	p.S38S	CCDC114_ENST00000497803.1_5'UTR	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	38					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTGGGCTGCGCTGATCTGCA	0.662																																																	0													28.0	30.0	30.0					19																	48821779		692	1591	2283	SO:0001819	synonymous_variant	0			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.114C>T	19.37:g.48821779G>A			Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	NULL	p.S38	ENST00000315396.7	37	c.114	CCDS12714.2	19																																																																																			CCDC114	-	NULL	ENSG00000105479		0.662	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	-	0.00	46	0	G	NM_144577		48821779	-1	tier1	-	no_errors	ENST00000315396	ensembl	human	known	74_37	silent	19.72	57	14	SNP	0.000	A
CCDC127	133957	genome.wustl.edu	37	5	216926	216926	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:216926C>T	ENST00000296824.3	-	2	171	c.39G>A	c.(37-39)cgG>cgA	p.R13R	CTD-2083E4.4_ENST00000565521.1_RNA|SDHA_ENST00000504309.1_5'Flank|SDHA_ENST00000510361.1_5'Flank|SDHA_ENST00000264932.6_5'Flank	NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	13										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TGGAATTAGGCCGGATATTCC	0.393																																																	0													28.0	26.0	26.0					5																	216926		2200	4275	6475	SO:0001819	synonymous_variant	0			AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.39G>A	5.37:g.216926C>T				Silent	SNP	NULL	p.R13	ENST00000296824.3	37	c.39	CCDS3852.1	5																																																																																			CCDC127	-	NULL	ENSG00000164366		0.393	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC127	HGNC	protein_coding	OTTHUMT00000365459.2	-	0.00	49	0	C	NM_145265		216926	-1	tier1	-	no_errors	ENST00000296824	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.978	T
DRC7	84229	genome.wustl.edu	37	16	57741507	57741507	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:57741507G>A	ENST00000360716.3	+	8	1215	c.994G>A	c.(994-996)Gat>Aat	p.D332N	CCDC135_ENST00000394337.4_Missense_Mutation_p.D332N|CCDC135_ENST00000336825.8_Missense_Mutation_p.D267N			Q8IY82	CC135_HUMAN		332					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CAGCACCCAGGATGAGCACTT	0.567																																																	0													84.0	69.0	74.0					16																	57741507		2196	4300	6496	SO:0001583	missense	0																														ENST00000360716.3:c.994G>A	16.37:g.57741507G>A	ENSP00000353942:p.Asp332Asn		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.D332N	ENST00000360716.3	37	c.994	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	.	13.29	2.191785	0.38707	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.74002	-0.8;-0.8;-0.8	5.03	5.03	0.67393	.	0.285520	0.38111	N	0.001802	T	0.81735	0.4885	L	0.60067	1.865	0.09310	N	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.963	T	0.72418	-0.4300	10	0.37606	T	0.19	-31.5988	10.9142	0.47126	0.086:0.0:0.914:0.0	.	267;332	Q8IY82-2;Q8IY82	.;CC135_HUMAN	N	332;267;332	ENSP00000377869:D332N;ENSP00000338938:D267N;ENSP00000353942:D332N	ENSP00000338938:D267N	D	+	1	0	CCDC135	56299008	0.978000	0.34361	0.968000	0.41197	0.090000	0.18270	2.920000	0.48844	2.332000	0.79248	0.637000	0.83480	GAT	CCDC135	-	NULL	ENSG00000159625		0.567	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2		0.00	33	0	G			57741507	+1			no_errors	ENST00000360716	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.156	A
CCDC175	729665	genome.wustl.edu	37	14	59992099	59992100	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:59992099_59992100insT	ENST00000537690.2	-	16	1950_1951	c.1895_1896insA	c.(1894-1896)aacfs	p.N632fs	CCDC175_ENST00000281581.4_Frame_Shift_Ins_p.N632fs|RP11-701B16.2_ENST00000554253.1_RNA	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	632																	AATGATCTTTGTTTTTTTTGCT	0.307																																																	0																																										SO:0001589	frameshift_variant	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.1896dupA	14.37:g.59992107_59992107dupT	ENSP00000453940:p.Asn632fs		G3V5J7	Frame_Shift_Ins	INS	superfamily_Prefoldin	p.N632fs	ENST00000537690.2	37	c.1896_1895	CCDS53898.1	14																																																																																			CCDC175	-	NULL	ENSG00000151838		0.307	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1		0.00	75	0	-	NM_001164399		59992100	-1	tier1		no_errors	ENST00000281581	ensembl	human	known	74_37	frame_shift_ins	24.53	40	13	INS	0.000:0.000	T
CCSER1	401145	genome.wustl.edu	37	4	92520052	92520052	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:92520052A>C	ENST00000509176.1	+	11	2835	c.2547A>C	c.(2545-2547)caA>caC	p.Q849H	CCSER1_ENST00000333691.8_Missense_Mutation_p.Q849H	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	849																	CAAAGGACCAAGTTGCTACGG	0.517																																																	0													93.0	83.0	86.0					4																	92520052		692	1591	2283	SO:0001583	missense	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2547A>C	4.37:g.92520052A>C	ENSP00000425040:p.Gln849His		Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.Q849H	ENST00000509176.1	37	c.2547	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	A	6.744	0.506002	0.12883	.	.	ENSG00000184305	ENST00000509176;ENST00000333691	T;T	0.32515	1.45;1.45	5.49	-5.12	0.02893	.	.	.	.	.	T	0.11067	0.0270	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22417	-1.0217	9	0.32370	T	0.25	-0.332	2.3982	0.04394	0.3461:0.2206:0.3261:0.1072	.	849	Q9C0I3	F190A_HUMAN	H	849	ENSP00000425040:Q849H;ENSP00000329482:Q849H	ENSP00000329482:Q849H	Q	+	3	2	FAM190A	92739075	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.064000	0.14437	-0.781000	0.04548	0.528000	0.53228	CAA	CCSER1	-	NULL	ENSG00000184305		0.517	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0.00	47	0	A	NM_001145065		92520052	+1	tier1	-	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	44.44	15	12	SNP	0.000	C
CDH9	1007	genome.wustl.edu	37	5	26881552	26881552	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:26881552A>C	ENST00000231021.4	-	12	2235	c.2063T>G	c.(2062-2064)cTt>cGt	p.L688R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	688					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCCCGTCTAAGTTTACTGTC	0.408																																					Melanoma(8;187 585 15745 40864 52829)												0													192.0	184.0	187.0					5																	26881552		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2063T>G	5.37:g.26881552A>C	ENSP00000231021:p.Leu688Arg		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L688R	ENST00000231021.4	37	c.2063	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024784	0.35701	.	.	ENSG00000113100	ENST00000231021	T	0.76839	-1.05	4.96	3.76	0.43208	Cadherin, cytoplasmic domain (1);	0.334872	0.32357	N	0.006216	T	0.75317	0.3833	L	0.42632	1.34	0.40977	D	0.984746	B;B	0.28783	0.222;0.003	B;B	0.42593	0.392;0.05	T	0.68739	-0.5329	9	.	.	.	.	10.9095	0.47099	0.842:0.1579:0.0:0.0	.	281;688	B4DFP0;Q9ULB4	.;CADH9_HUMAN	R	688	ENSP00000231021:L688R	.	L	-	2	0	CDH9	26917309	1.000000	0.71417	0.953000	0.39169	0.966000	0.64601	5.823000	0.69272	0.800000	0.34041	0.455000	0.32223	CTT	CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0.00	52	0	A	NM_016279		26881552	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	28.00	54	21	SNP	0.998	C
CENPK	64105	genome.wustl.edu	37	5	64814371	64814371	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:64814371C>T	ENST00000396679.1	-	11	955	c.741G>A	c.(739-741)ctG>ctA	p.L247L	CENPK_ENST00000508421.1_Silent_p.L217L|CENPK_ENST00000510693.1_Silent_p.L184L|CENPK_ENST00000242872.3_Silent_p.L247L|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000514814.1_Silent_p.L247L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	247					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TTCCATTACGCAGCAGCAGCT	0.353																																																	0													109.0	107.0	107.0					5																	64814371		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.741G>A	5.37:g.64814371C>T			Q9H4L0	Silent	SNP	pfam_Centromere_CenpK,superfamily_Prefoldin	p.L247	ENST00000396679.1	37	c.741	CCDS3984.1	5																																																																																			CENPK	-	pfam_Centromere_CenpK	ENSG00000123219		0.353	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPK	HGNC	protein_coding	OTTHUMT00000253971.2	-	0.00	50	0	C	NM_022145		64814371	-1	tier1	-	no_errors	ENST00000242872	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.998	T
CES1	1066	genome.wustl.edu	37	16	55855374	55855374	+	Missense_Mutation	SNP	C	C	A	rs2307243	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:55855374C>A	ENST00000361503.4	-	5	726	c.596G>T	c.(595-597)cGc>cTc	p.R199L	CES1_ENST00000422046.2_Missense_Mutation_p.R199L|CES1_ENST00000360526.3_Missense_Mutation_p.R200L|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	199			R -> H (in dbSNP:rs2307243).		epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CTGGACCCAGCGCAGGGCAGC	0.587																																					NSCLC(162;1801 2756 42904 52896)												0													51.0	53.0	53.0					16																	55855374		2198	4300	6498	SO:0001583	missense	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.596G>T	16.37:g.55855374C>A	ENSP00000355193:p.Arg199Leu		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.R200L	ENST00000361503.4	37	c.599	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	13.61	2.289262	0.40494	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.70869	-0.52;-0.52;-0.52	4.18	-6.68	0.01778	Carboxylesterase, type B (1);	0.736535	0.12828	N	0.435838	T	0.69468	0.3114	M	0.83223	2.63	0.23978	N	0.996287	B;B;P	0.35050	0.249;0.249;0.482	B;B;B	0.37731	0.192;0.192;0.257	T	0.65384	-0.6181	10	0.72032	D	0.01	.	12.5112	0.56007	0.0:0.1933:0.0:0.8067	.	199;199;200	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	L	200;199;199;64	ENSP00000353720:R200L;ENSP00000355193:R199L;ENSP00000390492:R199L	ENSP00000353720:R200L	R	-	2	0	CES1	54412875	0.000000	0.05858	0.512000	0.27736	0.535000	0.34838	-2.000000	0.01466	-1.466000	0.01897	-1.355000	0.01225	CGC	CES1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000198848		0.587	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	-	0.00	59	0	C	NM_001266		55855374	-1	tier1	-	no_errors	ENST00000360526	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.938	A
CFHR3	10878	genome.wustl.edu	37	1	196757398	196757398	+	Silent	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:196757398T>A	ENST00000367425.4	+	4	575	c.483T>A	c.(481-483)tcT>tcA	p.S161S	CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000471440.2_Silent_p.S161S	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	161	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TTTCCGAATCTTCCTCtattt	0.264																																																	0													8.0	13.0	12.0					1																	196757398		1459	3832	5291	SO:0001819	synonymous_variant	0			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.483T>A	1.37:g.196757398T>A			B4DPR0|Q9UJ16	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S161	ENST00000367425.4	37	c.483	CCDS30958.1	1																																																																																			CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116785		0.264	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	-	0.00	102	0	T	NM_021023		196757398	+1	tier1	-	no_errors	ENST00000367425	ensembl	human	known	74_37	silent	17.33	62	13	SNP	0.003	A
CFHR5	81494	genome.wustl.edu	37	1	196953134	196953134	+	Silent	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:196953134T>C	ENST00000256785.4	+	3	406	c.297T>C	c.(295-297)tcT>tcC	p.S99S	CFHR5_ENST00000367414.5_Silent_p.S123S			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	99	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATTCTGAATCTTCAGGACTAA	0.343																																																	0													99.0	88.0	92.0					1																	196953134		2203	4300	6503	SO:0001819	synonymous_variant	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.297T>C	1.37:g.196953134T>C			Q2NKK2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S123	ENST00000256785.4	37	c.369	CCDS1387.1	1																																																																																			CFHR5	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.343	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2		0.00	50	0	T	NM_030787		196953134	+1			no_errors	ENST00000367414	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.037	C
CHD9	80205	genome.wustl.edu	37	16	53340292	53340292	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:53340292G>T	ENST00000398510.3	+	31	6850	c.6763G>T	c.(6763-6765)Gcc>Tcc	p.A2255S	CHD9_ENST00000566029.1_Missense_Mutation_p.A2255S|CHD9_ENST00000447540.1_Missense_Mutation_p.A2256S|CHD9_ENST00000564845.1_Missense_Mutation_p.A2255S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2255					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TATGCTGGCAGCCTCGTATTG	0.378																																																	0													76.0	74.0	75.0					16																	53340292		1873	4099	5972	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6763G>T	16.37:g.53340292G>T	ENSP00000381522:p.Ala2255Ser		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A2255S	ENST00000398510.3	37	c.6763		16	.	.	.	.	.	.	.	.	.	.	G	18.27	3.585877	0.66105	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.86562	-2.08;-2.14	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000017	D	0.89385	0.6700	L	0.36672	1.1	0.58432	D	0.99999	D;D;P;D;D	0.67145	0.983;0.993;0.827;0.995;0.996	P;P;B;P;D	0.65233	0.679;0.858;0.359;0.894;0.933	D	0.85187	0.1007	10	0.14656	T	0.56	-12.4407	19.7167	0.96124	0.0:0.0:1.0:0.0	.	321;2255;2256;2255;2255	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	S	2256;2255;321	ENSP00000396345:A2256S;ENSP00000381522:A2255S	ENSP00000381522:A2255S	A	+	1	0	CHD9	51897793	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.562000	0.82300	2.673000	0.90976	0.650000	0.86243	GCC	CHD9	-	NULL	ENSG00000177200		0.378	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0.00	64	0	G	NM_025134		53340292	+1			no_errors	ENST00000398510	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
CHRD	8646	genome.wustl.edu	37	3	184104327	184104327	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:184104327G>A	ENST00000204604.1	+	16	2226	c.1980G>A	c.(1978-1980)gcG>gcA	p.A660A	CHRD_ENST00000348986.3_Silent_p.A620A|CHRD_ENST00000450923.1_Silent_p.A660A|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	660					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTGGAGGCGGCCGGGGCCG	0.711																																																	0													3.0	3.0	3.0					3																	184104327		1606	3301	4907	SO:0001819	synonymous_variant	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1980G>A	3.37:g.184104327G>A			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.A660	ENST00000204604.1	37	c.1980	CCDS3266.1	3																																																																																			CHRD	-	pirsf_Chordin	ENSG00000090539		0.711	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0.00	12	0	G	NM_003741		184104327	+1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	silent	60.00	4	6	SNP	0.000	A
CHRNB1	1140	genome.wustl.edu	37	17	7348709	7348709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:7348709delT	ENST00000306071.2	+	2	246	c.179delT	c.(178-180)ctgfs	p.L60fs	CHRNB1_ENST00000576360.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|CHRNB1_ENST00000536404.2_5'Flank	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	60					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GGTCTCATCCTGGCGCAACTC	0.677																																																	0													16.0	17.0	17.0					17																	7348709		2201	4297	6498	SO:0001589	frameshift_variant	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.179delT	17.37:g.7348709delT	ENSP00000304290:p.Leu60fs		B7Z5H1|Q8IZ46|Q96FB8	Frame_Shift_Del	DEL	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L60fs	ENST00000306071.2	37	c.179	CCDS11106.1	17																																																																																			CHRNB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000170175		0.677	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3		0.00	17	0	T			7348709	+1	tier1		no_errors	ENST00000306071	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.984	-
CHST9	83539	genome.wustl.edu	37	18	24496706	24496706	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:24496706C>T	ENST00000284224.8	-	6	1126	c.849G>A	c.(847-849)atG>atA	p.M283I	CHST9_ENST00000581714.1_Missense_Mutation_p.M283I|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	283					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTAATCTTTCCATGGGATCAC	0.383																																																	0													146.0	135.0	139.0					18																	24496706		1847	4089	5936	SO:0001583	missense	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.849G>A	18.37:g.24496706C>T	ENSP00000284224:p.Met283Ile		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	pfam_Sulfotransferase	p.M283I	ENST00000284224.8	37	c.849	CCDS42422.1	18	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454377	0.26161	.	.	ENSG00000154080	ENST00000284224	T	0.71461	-0.57	6.17	5.3	0.74995	.	0.119337	0.64402	N	0.000012	T	0.56790	0.2009	N	0.20986	0.625	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.55055	-0.8200	10	0.59425	D	0.04	-16.6392	10.6281	0.45519	0.1317:0.8019:0.0:0.0664	.	283	Q7L1S5	CHST9_HUMAN	I	283	ENSP00000284224:M283I	ENSP00000284224:M283I	M	-	3	0	CHST9	22750704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.091000	0.30915	1.602000	0.50124	0.655000	0.94253	ATG	CHST9	-	pfam_Sulfotransferase	ENSG00000154080		0.383	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1	-	0.00	48	0	C	NM_031422		24496706	-1	tier1	-	no_errors	ENST00000284224	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	T
CLDN17	26285	genome.wustl.edu	37	21	31538467	31538467	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr21:31538467G>T	ENST00000286808.3	-	1	504	c.469C>A	c.(469-471)Cag>Aag	p.Q157K		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	157					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TCTCGTTTCTGACCTATGTGG	0.517																																																	0													77.0	74.0	75.0					21																	31538467		2203	4300	6503	SO:0001583	missense	0			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.469C>A	21.37:g.31538467G>T	ENSP00000286808:p.Gln157Lys		Q3MJB5|Q6UY37	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8	p.Q157K	ENST00000286808.3	37	c.469	CCDS13586.1	21	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268853	0.59540	.	.	ENSG00000156282	ENST00000286808	D	0.88586	-2.4	4.63	4.63	0.57726	.	0.060432	0.64402	D	0.000002	D	0.91858	0.7423	M	0.84326	2.69	0.58432	D	0.999998	B	0.31026	0.304	B	0.40982	0.345	D	0.90493	0.4468	10	0.39692	T	0.17	.	18.4009	0.90515	0.0:0.0:1.0:0.0	.	157	P56750	CLD17_HUMAN	K	157	ENSP00000286808:Q157K	ENSP00000286808:Q157K	Q	-	1	0	CLDN17	30460338	1.000000	0.71417	0.985000	0.45067	0.540000	0.34992	6.342000	0.72982	2.865000	0.98341	0.655000	0.94253	CAG	CLDN17	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000156282		0.517	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN17	HGNC	protein_coding	OTTHUMT00000182261.1	-	0.00	30	0	G	NM_012131		31538467	-1	tier1	-	no_errors	ENST00000286808	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	T
CLEC16A	23274	genome.wustl.edu	37	16	11214478	11214478	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:11214478G>T	ENST00000409790.1	+	20	2353	c.2123G>T	c.(2122-2124)aGc>aTc	p.S708I	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S690I|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAGATAACAGCGACTTGATT	0.517																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											116.0	114.0	115.0					16																	11214478		2126	4240	6366	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2123G>T	16.37:g.11214478G>T	ENSP00000387122:p.Ser708Ile			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.S708I	ENST00000409790.1	37	c.2123	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872148	0.91587	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.53857	0.6	5.82	5.82	0.92795	.	0.080102	0.85682	D	0.000000	T	0.73361	0.3577	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.83275	0.724;0.996	T	0.73662	-0.3912	10	0.59425	D	0.04	-19.153	19.0811	0.93182	0.0:0.0:1.0:0.0	.	708;690	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	I	708;708;690	ENSP00000387122:S708I	ENSP00000386495:S690I	S	+	2	0	CLEC16A	11121979	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	9.238000	0.95380	2.756000	0.94617	0.561000	0.74099	AGC	CLEC16A	-	NULL	ENSG00000038532		0.517	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	-	0.00	72	0	G	NM_015226		11214478	+1	tier1	-	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
CLK3	1198	genome.wustl.edu	37	15	74912501	74912501	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:74912501C>T	ENST00000395066.3	+	3	1209	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	CLK3_ENST00000345005.4_Missense_Mutation_p.R102W|CLK3_ENST00000352989.5_Missense_Mutation_p.R102W|CLK3_ENST00000348245.3_Missense_Mutation_p.R102W	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	250	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GGGGCCATACCGGACCCGCAA	0.612																																					Ovarian(133;694 1754 28950 29027 31859)												0													145.0	153.0	150.0					15																	74912501		2197	4296	6493	SO:0001583	missense	0			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.748C>T	15.37:g.74912501C>T	ENSP00000378505:p.Arg250Trp		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	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.R250W	ENST00000395066.3	37	c.748	CCDS45304.1	15	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762526	0.89932	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.54071	0.59;0.61	5.95	5.95	0.96441	.	0.349238	0.26470	N	0.024191	T	0.60689	0.2288	L	0.39898	1.24	0.40560	D	0.981206	D;D;D	0.89917	0.999;1.0;0.983	P;D;P	0.71184	0.719;0.972;0.483	T	0.61715	-0.7006	10	0.52906	T	0.07	.	9.4396	0.38659	0.1446:0.7825:0.0:0.0729	.	250;250;102	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	W	102;102;250;102;102	ENSP00000344112:R102W;ENSP00000323106:R102W	ENSP00000344112:R102W	R	+	1	2	CLK3	72699554	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.142000	0.50601	2.824000	0.97209	0.655000	0.94253	CGG	CLK3	-	NULL	ENSG00000179335		0.612	CLK3-003	KNOWN	basic|CCDS	protein_coding	CLK3	HGNC	protein_coding	OTTHUMT00000390442.3	-	0.00	29	0	C			74912501	+1	tier1	-	no_errors	ENST00000395066	ensembl	human	known	74_37	missense	72.00	7	18	SNP	1.000	T
CNTROB	116840	genome.wustl.edu	37	17	7851960	7851960	+	Intron	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:7851960G>A	ENST00000563694.1	+	17	3438				CNTROB_ENST00000380262.3_Missense_Mutation_p.E846K|CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000565740.1_Intron	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein						centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GAGGAAGGAGGAAGGATTCTC	0.557																																																	0													109.0	108.0	108.0					17																	7851960		2203	4300	6503	SO:0001627	intron_variant	0			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2513+23G>A	17.37:g.7851960G>A			A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	NULL	p.E846K	ENST00000563694.1	37	c.2536	CCDS11126.1	17	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639896	0.29157	.	.	ENSG00000170037	ENST00000380262	T	0.42131	0.98	5.05	1.89	0.25635	.	2.031230	0.02308	N	0.071842	T	0.22666	0.0547	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15521	-1.0434	9	0.12430	T	0.62	4.2334	3.4486	0.07490	0.0916:0.1602:0.5622:0.1859	.	846	Q8N137-2	.	K	846	ENSP00000369614:E846K	ENSP00000369614:E846K	E	+	1	0	CNTROB	7792685	0.006000	0.16342	0.000000	0.03702	0.010000	0.07245	0.876000	0.28092	0.266000	0.21894	-0.137000	0.14449	GAA	CNTROB	-	NULL	ENSG00000170037		0.557	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNTROB	HGNC	protein_coding	OTTHUMT00000421372.1	-	0.00	46	0	G	NM_053051		7851960	+1	tier1	-	no_errors	ENST00000380262	ensembl	human	known	74_37	missense	22.00	39	11	SNP	0.000	A
COL12A1	1303	genome.wustl.edu	37	6	75825618	75825618	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:75825618A>G	ENST00000322507.8	-	49	7888	c.7579T>C	c.(7579-7581)Tac>Cac	p.Y2527H	COL12A1_ENST00000345356.6_Missense_Mutation_p.Y1363H|COL12A1_ENST00000483888.2_Missense_Mutation_p.Y2527H|COL12A1_ENST00000416123.2_Missense_Mutation_p.Y2527H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2527	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTCAGGTTGTATGCTTCAAGC	0.343																																																	0													84.0	80.0	81.0					6																	75825618		1859	4095	5954	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7579T>C	6.37:g.75825618A>G	ENSP00000325146:p.Tyr2527His		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.Y2527H	ENST00000322507.8	37	c.7579	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087667	0.55968	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42;4.42	4.84	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.067113	0.64402	D	0.000013	T	0.04318	0.0119	L	0.44542	1.39	0.45733	D	0.998639	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.909	T	0.44267	-0.9339	10	0.87932	D	0	.	14.4469	0.67356	1.0:0.0:0.0:0.0	.	1363;2527	Q99715-2;Q99715	.;COCA1_HUMAN	H	2527;165;2527;1363;2527;2527;81	ENSP00000325146:Y2527H;ENSP00000399812:Y165H;ENSP00000305147:Y1363H;ENSP00000412864:Y2527H;ENSP00000421216:Y2527H;ENSP00000423423:Y81H	ENSP00000325146:Y2527H	Y	-	1	0	COL12A1	75882338	1.000000	0.71417	0.989000	0.46669	0.278000	0.26855	8.887000	0.92456	1.798000	0.52647	0.533000	0.62120	TAC	COL12A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000111799		0.343	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0.00	39	0	A	NM_004370		75825618	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.997	G
CPNE4	131034	genome.wustl.edu	37	3	131268922	131268922	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:131268922T>G	ENST00000512055.1	-	18	3297	c.1171A>C	c.(1171-1173)Att>Ctt	p.I391L	CPNE4_ENST00000512332.1_Missense_Mutation_p.I409L|CPNE4_ENST00000502818.1_Missense_Mutation_p.I409L|CPNE4_ENST00000429747.1_Missense_Mutation_p.I391L|CPNE4_ENST00000511604.1_Missense_Mutation_p.I391L			Q96A23	CPNE4_HUMAN	copine IV	391	VWFA.					extracellular vesicular exosome (GO:0070062)				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						ACTCCTTGAATTCCTGAGGTG	0.438																																																	0													96.0	95.0	95.0					3																	131268922		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.1171A>C	3.37:g.131268922T>G	ENSP00000421705:p.Ile391Leu		D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.I409L	ENST00000512055.1	37	c.1225	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597635	0.66332	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.33	5.33	0.75918	von Willebrand factor, type A (1);Copine (1);	0.185327	0.56097	D	0.000039	T	0.28699	0.0711	L	0.53617	1.68	0.80722	D	1	B;P	0.37663	0.395;0.604	B;B	0.42653	0.382;0.394	T	0.03898	-1.0994	10	0.62326	D	0.03	-16.1244	15.2967	0.73913	0.0:0.0:0.0:1.0	.	409;391	Q96A23-2;Q96A23	.;CPNE4_HUMAN	L	391;391;409;391;409	ENSP00000421705:I391L;ENSP00000411904:I391L;ENSP00000424853:I409L;ENSP00000423811:I391L;ENSP00000421646:I409L	ENSP00000411904:I391L	I	-	1	0	CPNE4	132751612	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.141000	0.64814	2.028000	0.59812	0.379000	0.24179	ATT	CPNE4	-	pfam_Copine,smart_VWF_A	ENSG00000196353		0.438	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	-	0.00	35	0	T	NM_130808		131268922	-1	tier1	-	no_errors	ENST00000502818	ensembl	human	known	74_37	missense	84.62	4	22	SNP	1.000	G
CREBRF	153222	genome.wustl.edu	37	5	172537685	172537685	+	Silent	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:172537685A>G	ENST00000296953.2	+	6	1897	c.1578A>G	c.(1576-1578)tcA>tcG	p.S526S	CREBRF_ENST00000540014.1_Silent_p.S528S	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	526	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GACCAAGGTCAAGGAAGGAAA	0.418																																																	0													50.0	50.0	50.0					5																	172537685		2203	4300	6503	SO:0001819	synonymous_variant	0			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1578A>G	5.37:g.172537685A>G			B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Silent	SNP	NULL	p.S528	ENST00000296953.2	37	c.1584	CCDS34293.1	5																																																																																			CREBRF	-	NULL	ENSG00000164463		0.418	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	-	0.00	39	0	A	NM_153607		172537685	+1	tier1	-	no_errors	ENST00000540014	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	G
CRISPLD1	83690	genome.wustl.edu	37	8	75924743	75924743	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:75924743T>A	ENST00000262207.4	+	3	802	c.334T>A	c.(334-336)Ttg>Atg	p.L112M	CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	112	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ACCTGCAAGCTTGCTTCCATC	0.393																																																	0													146.0	133.0	137.0					8																	75924743		2203	4300	6503	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.334T>A	8.37:g.75924743T>A	ENSP00000262207:p.Leu112Met		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.L112M	ENST00000262207.4	37	c.334	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277134	0.59758	.	.	ENSG00000121005	ENST00000262207	T	0.08546	3.08	5.26	-1.15	0.09709	CAP domain (3);	0.000000	0.64402	D	0.000003	T	0.14830	0.0358	M	0.85462	2.755	0.58432	D	0.999999	P	0.49185	0.92	P	0.48368	0.575	T	0.02498	-1.1150	10	0.48119	T	0.1	.	6.3072	0.21145	0.1261:0.5453:0.0:0.3287	.	112	Q9H336	CRLD1_HUMAN	M	112	ENSP00000262207:L112M	ENSP00000262207:L112M	L	+	1	2	CRISPLD1	76087298	0.090000	0.21635	0.068000	0.19968	0.840000	0.47671	0.477000	0.22196	-0.409000	0.07553	-0.379000	0.06801	TTG	CRISPLD1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000121005		0.393	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	-	0.00	40	0	T	NM_031461		75924743	+1	tier1	-	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	14.49	59	10	SNP	0.629	A
CROCCP2	84809	genome.wustl.edu	37	1	16945227	16945227	+	lincRNA	SNP	G	G	T	rs9728628	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:16945227G>T	ENST00000412962.1	-	0	2292				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CATTCTTACAGGCATTACCTT	0.373																																																	0																																												0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945227G>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.373	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1		0.00	25	0	G	NR_026752.1		16945227	-1			no_errors	ENST00000412962	ensembl	human	known	74_37	rna	21.05	15	4	SNP	0.004	T
CROCCP2	84809	genome.wustl.edu	37	1	16946112	16946112	+	lincRNA	SNP	C	C	T	rs375927660		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:16946112C>T	ENST00000412962.1	-	0	1407				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGGTGTCACGACTGTCAct	0.582																																																	0																																												0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946112C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.582	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1		0.00	8	0	C	NR_026752.1		16946112	-1			no_errors	ENST00000412962	ensembl	human	known	74_37	rna	36.36	7	4	SNP	0.000	T
CSN1S1	1446	genome.wustl.edu	37	4	70799939	70799939	+	Missense_Mutation	SNP	C	C	A	rs34698344	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:70799939C>A	ENST00000246891.4	+	3	110	c.61C>A	c.(61-63)Ctt>Att	p.L21I	CSN1S1_ENST00000507772.1_Missense_Mutation_p.L21I|CSN1S1_ENST00000444405.3_Missense_Mutation_p.L21I|CSN1S1_ENST00000507763.1_Missense_Mutation_p.L21I|CSN1S1_ENST00000505782.1_Missense_Mutation_p.L21I	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	21						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)	p.L21V(1)		lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						GAAACTTCCTCTTAGATACCC	0.323																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											125.0	114.0	118.0					4																	70799939		1819	4072	5891	SO:0001583	missense	0			X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.61C>A	4.37:g.70799939C>A	ENSP00000246891:p.Leu21Ile		A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	NULL	p.L21I	ENST00000246891.4	37	c.61	CCDS47067.1	4	.	.	.	.	.	.	.	.	.	.	C	1.226	-0.625479	0.03610	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	3.48	-6.01	0.02199	.	2.547120	0.01427	N	0.014603	T	0.21801	0.0525	N	0.14661	0.345	0.09310	N	1.0	B;B;B	0.29432	0.244;0.244;0.244	B;B;B	0.24848	0.056;0.056;0.056	T	0.11421	-1.0588	9	0.14252	T	0.57	0.217	0.6676	0.00853	0.2455:0.2459:0.1221:0.3865	.	21;21;21	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	I	21	ENSP00000246891:L21I;ENSP00000413157:L21I;ENSP00000422611:L21I;ENSP00000427490:L21I;ENSP00000426684:L21I	ENSP00000246891:L21I	L	+	1	0	CSN1S1	70834528	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.020000	0.01441	-1.683000	0.01444	-1.054000	0.02325	CTT	CSN1S1	-	NULL	ENSG00000126545		0.323	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSN1S1	HGNC	protein_coding	OTTHUMT00000362629.1		0.00	43	0	C			70799939	+1			no_errors	ENST00000246891	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.000	A
CSPP1	79848	genome.wustl.edu	37	8	68044184	68044184	+	Splice_Site	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:68044184A>G	ENST00000262210.5	+	14	1713		c.e14-1		CSPP1_ENST00000412460.1_Splice_Site	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1						positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TATTTGATGTAGGAATACGGT	0.299																																																	0													118.0	110.0	113.0					8																	68044184		1819	4083	5902	SO:0001630	splice_region_variant	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1683-1A>G	8.37:g.68044184A>G			A6ND63|Q70F00|Q8TBC1	Splice_Site	SNP	-	e14-2	ENST00000262210.5	37	c.1683-2	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073700	0.76415	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9637	0.71174	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSPP1	68206738	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.868000	0.69605	2.018000	0.59344	0.383000	0.25322	.	CSPP1	-	-	ENSG00000104218		0.299	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	-	0.00	82	0	A	NM_024790	Intron	68044184	+1	tier1	-	no_errors	ENST00000262210	ensembl	human	known	74_37	splice_site	34.04	62	32	SNP	0.997	G
CTTNBP2NL	55917	genome.wustl.edu	37	1	112958899	112958899	+	Intron	DEL	A	A	-	rs370406156		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:112958899delA	ENST00000271277.6	+	3	324					NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like						negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTAAAAGAAAAAAAAAAA	0.323																																																	0													38.0	42.0	40.0					1																	112958899		2199	4299	6498	SO:0001627	intron_variant	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.99+13A>-	1.37:g.112958899delA			B3KMS5|Q96B40	RNA	DEL	-	NULL	ENST00000271277.6	37	NULL	CCDS845.1	1																																																																																			CTTNBP2NL	-	-	ENSG00000143079		0.323	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1		0.00	42	0	A	NM_018704		112958899	+1	tier1		no_errors	ENST00000502356	ensembl	human	known	74_37	rna	28.00	18	7	DEL	0.000	-
CWC22	57703	genome.wustl.edu	37	2	180809975	180809975	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:180809975T>C	ENST00000410053.3	-	20	2907	c.2608A>G	c.(2608-2610)Aga>Gga	p.R870G	CWC22_ENST00000295749.6_Missense_Mutation_p.R870G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	870					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R870*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTTTGATATCTATCTTCATCA	0.378																																																	1	Substitution - Nonsense(1)	endometrium(1)											170.0	150.0	157.0					2																	180809975		1837	4092	5929	SO:0001583	missense	0				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2608A>G	2.37:g.180809975T>C	ENSP00000387006:p.Arg870Gly		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.R870G	ENST00000410053.3	37	c.2608	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	T	6.605	0.479998	0.12581	.	.	ENSG00000163510	ENST00000410053;ENST00000295749	T;T	0.18810	2.19;2.19	5.23	2.58	0.30949	.	0.259771	0.38217	N	0.001770	T	0.17789	0.0427	L	0.58101	1.795	0.22562	N	0.998989	B	0.27498	0.18	B	0.21917	0.037	T	0.20874	-1.0262	10	0.72032	D	0.01	-10.3762	5.0416	0.14462	0.0:0.0982:0.37:0.5317	.	870	Q9HCG8	CWC22_HUMAN	G	870	ENSP00000387006:R870G;ENSP00000295749:R870G	ENSP00000295749:R870G	R	-	1	2	CWC22	180518220	0.001000	0.12720	0.466000	0.27168	0.283000	0.27025	0.095000	0.15127	0.887000	0.36136	0.533000	0.62120	AGA	CWC22	-	NULL	ENSG00000163510		0.378	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	-	0.00	68	0	T	NM_020943		180809975	-1	tier1	-	no_errors	ENST00000295749	ensembl	human	known	74_37	missense	57.14	18	24	SNP	0.008	C
CYFIP2	26999	genome.wustl.edu	37	5	156734794	156734794	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:156734794T>C	ENST00000521420.1	+	8	834	c.743T>C	c.(742-744)aTg>aCg	p.M248T	CYFIP2_ENST00000522463.1_Missense_Mutation_p.M78T|CYFIP2_ENST00000347377.6_Missense_Mutation_p.M274T|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M274T|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M199T|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M274T|CYFIP2_ENST00000442283.2_5'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTACCTAATGGATGGAAAT	0.398																																																	0													56.0	54.0	55.0					5																	156734794		1860	4102	5962	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.743T>C	5.37:g.156734794T>C	ENSP00000430904:p.Met248Thr			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.M274T	ENST00000521420.1	37	c.821		5	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178420	0.57692	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T;T	0.40476	1.03;1.98;1.03;1.03;1.03;1.03	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	M	0.62723	1.935	0.80722	D	1	B;B;B;P;B;B	0.48764	0.452;0.415;0.04;0.915;0.409;0.018	B;B;B;B;B;B	0.39971	0.315;0.206;0.021;0.3;0.287;0.184	T	0.50866	-0.8777	10	0.66056	D	0.02	-34.2025	15.6034	0.76642	0.0:0.0:0.0:1.0	.	138;78;248;274;274;274	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	T	274;78;248;274;274;199	ENSP00000325817:M274T;ENSP00000428009:M78T;ENSP00000430904:M248T;ENSP00000313567:M274T;ENSP00000366799:M274T;ENSP00000444645:M199T	ENSP00000325817:M274T	M	+	2	0	CYFIP2	156667372	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	ATG	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000055163		0.398	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	-	0.00	76	0	T	NM_001037332		156734794	+1	tier1	-	no_errors	ENST00000318218	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C
DFFA	1676	genome.wustl.edu	37	1	10523661	10523661	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:10523661G>T	ENST00000377038.3	-	4	525	c.458C>A	c.(457-459)cCc>cAc	p.P153H	DFFA_ENST00000377036.2_Missense_Mutation_p.P153H	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	153					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GTCTGAGCAGGGAGCGTCAAC	0.493																																																	0													79.0	71.0	74.0					1																	10523661		2203	4300	6503	SO:0001583	missense	0			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.458C>A	1.37:g.10523661G>T	ENSP00000366237:p.Pro153His		Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	pfam_DNA_fragmentation_mid_dom,pfam_CIDE-N_dom,smart_CIDE-N_dom,pirsf_DNA_fragmentation_factor_asu,pfscan_CIDE-N_dom	p.P153H	ENST00000377038.3	37	c.458	CCDS118.1	1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391042	0.62066	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	4.82	4.82	0.62117	DNA fragmentation factor 45kDa, C-terminal (2);	0.048523	0.85682	D	0.000000	T	0.77432	0.4129	M	0.68952	2.095	0.47245	D	0.999368	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	T	0.80139	-0.1507	9	0.72032	D	0.01	-24.4146	16.4397	0.83896	0.0:0.0:1.0:0.0	.	153;153	O00273-2;O00273	.;DFFA_HUMAN	H	153	.	ENSP00000366235:P153H	P	-	2	0	DFFA	10446248	1.000000	0.71417	0.062000	0.19696	0.028000	0.11728	6.604000	0.74150	2.374000	0.81015	0.650000	0.86243	CCC	DFFA	-	pfam_DNA_fragmentation_mid_dom,pirsf_DNA_fragmentation_factor_asu	ENSG00000160049		0.493	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFA	HGNC	protein_coding	OTTHUMT00000005418.1	-	0.00	39	0	G	NM_004401		10523661	-1	tier1	-	no_errors	ENST00000377038	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.672	T
ACKR1	2532	genome.wustl.edu	37	1	159176175	159176175	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:159176175T>G	ENST00000368122.2	+	2	1625	c.946T>G	c.(946-948)Ttg>Gtg	p.L316V	DARC_ENST00000537147.1_Missense_Mutation_p.L316V|DARC_ENST00000368121.2_Missense_Mutation_p.L318V|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		316					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCGCACCCTCTTGCCCTCTCT	0.567																																																	0													210.0	229.0	223.0					1																	159176175		2203	4300	6503	SO:0001583	missense	0																														ENST00000368122.2:c.946T>G	1.37:g.159176175T>G	ENSP00000357104:p.Leu316Val		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	prints_Duffy_chemokine_rcpt	p.L318V	ENST00000368122.2	37	c.952	CCDS1183.1	1	.	.	.	.	.	.	.	.	.	.	T	7.095	0.572994	0.13623	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.38560	1.13;1.13;1.13	5.27	-5.16	0.02857	.	.	.	.	.	T	0.11623	0.0283	L	0.38175	1.15	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.005	T	0.42481	-0.9449	9	0.59425	D	0.04	0.0233	6.2781	0.20991	0.0:0.3304:0.3725:0.2972	.	318;316	Q5Y7A1;Q16570	.;DUFFY_HUMAN	V	316;316;316;318	ENSP00000357104:L316V;ENSP00000441985:L316V;ENSP00000357103:L318V	ENSP00000352341:L316V	L	+	1	2	DARC	157442799	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.789000	0.04609	-0.842000	0.04195	-0.418000	0.06021	TTG	DARC	-	NULL	ENSG00000213088		0.567	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARC	HGNC	protein_coding	OTTHUMT00000090338.2	-	0.00	74	0	T			159176175	+1	tier1	-	no_errors	ENST00000368121	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.000	G
DGKH	160851	genome.wustl.edu	37	13	42764662	42764662	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:42764662G>T	ENST00000337343.4	+	16	2056		c.e16+1		DGKH_ENST00000379274.2_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000261491.5_Splice_Site|DGKH_ENST00000538674.1_Splice_Site	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TCAATAACTGGTGAGGAAACT	0.333																																																	0													81.0	79.0	80.0					13																	42764662		2203	4300	6503	SO:0001630	splice_region_variant	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2035+1G>T	13.37:g.42764662G>T			A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Splice_Site	SNP	-	e16+1	ENST00000337343.4	37	c.2035+1	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857706	0.32791	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKH	41662662	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.994000	0.70623	2.831000	0.97527	0.650000	0.86243	.	DGKH	-	-	ENSG00000102780		0.333	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	-	0.00	63	0	G	NM_178009	Intron	42764662	+1	tier1	-	no_errors	ENST00000337343	ensembl	human	known	74_37	splice_site	7.02	53	4	SNP	1.000	T
DGKH	160851	genome.wustl.edu	37	13	42780261	42780261	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:42780261G>T	ENST00000337343.4	+	21	2601	c.2580G>T	c.(2578-2580)tgG>tgT	p.W860C	DGKH_ENST00000379274.2_Missense_Mutation_p.W724C|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.W860C|DGKH_ENST00000536612.1_Missense_Mutation_p.W724C|DGKH_ENST00000261491.5_Missense_Mutation_p.W860C|DGKH_ENST00000538674.1_Missense_Mutation_p.W615C	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	860					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTAACTTTTGGGGTGGAACTA	0.393																																																	0													110.0	103.0	105.0					13																	42780261		2203	4300	6503	SO:0001583	missense	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2580G>T	13.37:g.42780261G>T	ENSP00000337572:p.Trp860Cys		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.W860C	ENST00000337343.4	37	c.2580	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380814	0.82792	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.43	5.43	0.79202	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	H	0.94847	3.59	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;1.0;1.0;1.0	D	0.84613	0.0679	10	0.87932	D	0	.	19.5914	0.95514	0.0:0.0:1.0:0.0	.	615;724;860;860	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	C	860;860;860;724;724;615	ENSP00000440823:W860C;ENSP00000337572:W860C;ENSP00000261491:W860C;ENSP00000368576:W724C;ENSP00000445114:W724C;ENSP00000441308:W615C	ENSP00000261491:W860C	W	+	3	0	DGKH	41678261	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.720000	0.93068	0.591000	0.81541	TGG	DGKH	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000102780		0.393	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	-	0.00	80	0	G	NM_178009		42780261	+1	tier1	-	no_errors	ENST00000337343	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
DHCR7	1717	genome.wustl.edu	37	11	71155200	71155200	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:71155200C>T	ENST00000355527.3	-	4	436	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	DHCR7_ENST00000407721.2_Missense_Mutation_p.V54I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	54					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.V54I(1)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AAGTAGTAGACGATGAAGGGG	0.602									Smith-Lemli-Opitz syndrome																																								1	Substitution - Missense(1)	large_intestine(1)											59.0	47.0	51.0					11																	71155200		2200	4294	6494	SO:0001583	missense	0	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.160G>A	11.37:g.71155200C>T	ENSP00000347717:p.Val54Ile		B2R6Z2|O60492|O60717	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24	p.V54I	ENST00000355527.3	37	c.160	CCDS8200.1	11	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031339	0.54790	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000526780;ENST00000525346;ENST00000531364;ENST00000529990;ENST00000527452	D;D;D;D;D;D;D	0.97811	-4.55;-4.55;-4.01;-3.37;-3.21;-3.82;-2.99	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.96537	0.8870	L	0.39397	1.21	0.80722	D	1	D	0.64830	0.994	P	0.52031	0.688	D	0.95491	0.8569	10	0.30078	T	0.28	-35.7044	15.0473	0.71838	0.0:1.0:0.0:0.0	.	54	Q9UBM7	DHCR7_HUMAN	I	54;54;54;54;54;54;34;54	ENSP00000384739:V54I;ENSP00000347717:V54I;ENSP00000435668:V54I;ENSP00000435707:V54I;ENSP00000432589:V54I;ENSP00000435058:V34I;ENSP00000436007:V54I	ENSP00000347717:V54I	V	-	1	0	DHCR7	70832848	0.997000	0.39634	1.000000	0.80357	0.180000	0.23129	3.818000	0.55678	2.209000	0.71365	0.462000	0.41574	GTC	DHCR7	-	NULL	ENSG00000172893		0.602	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR7	HGNC	protein_coding	OTTHUMT00000394243.1		0.00	36	0	C	NM_001360		71155200	-1			no_errors	ENST00000355527	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T
DHX34	9704	genome.wustl.edu	37	19	47861291	47861291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:47861291G>T	ENST00000328771.4	+	4	1535	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	396	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCCGTGCTGGAGGCTGCCCA	0.647																																																	0													42.0	35.0	37.0					19																	47861291		2203	4300	6503	SO:0001587	stop_gained	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1186G>T	19.37:g.47861291G>T	ENSP00000331907:p.Glu396*		B4DMY8	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E396*	ENST00000328771.4	37	c.1186	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	G	40	8.138452	0.98672	.	.	ENSG00000134815	ENST00000328771	.	.	.	5.28	4.25	0.50352	.	0.328474	0.24238	N	0.040295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.3632	13.124	0.59342	0.0798:0.0:0.9202:0.0	.	.	.	.	X	396	.	ENSP00000331907:E396X	E	+	1	0	DHX34	52553129	1.000000	0.71417	0.996000	0.52242	0.016000	0.09150	7.462000	0.80851	1.220000	0.43490	-0.232000	0.12228	GAG	DHX34	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000134815		0.647	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3		0.00	46	0	G	NM_014681		47861291	+1			no_errors	ENST00000328771	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	1.000	T
DIP2C	22982	genome.wustl.edu	37	10	355976	355976	+	Silent	SNP	G	G	A	rs200561296	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:355976G>A	ENST00000280886.6	-	32	4068	c.3981C>T	c.(3979-3981)caC>caT	p.H1327H		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1327						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGTACCTGTCGTGTCTCAGGG	0.478													G|||	2	0.000399361	0.0	0.0	5008	,	,		19411	0.001		0.0	False		,,,				2504	0.001																0								G		1,4405	2.1+/-5.4	0,1,2202	168.0	146.0	153.0		3981	-10.0	0.2	10		153	0,8600		0,0,4300	no	coding-synonymous	DIP2C	NM_014974.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1327/1557	355976	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3981C>T	10.37:g.355976G>A			B4DPI5|Q5SS78	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.H1327	ENST00000280886.6	37	c.3981	CCDS7054.1	10																																																																																			DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.478	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1		0.00	44	0	G	NM_014974		355976	-1			no_errors	ENST00000280886	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.617	A
DMD	1756	genome.wustl.edu	37	X	31152222	31152222	+	Silent	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:31152222T>G	ENST00000357033.4	-	77	11217	c.11011A>C	c.(11011-11013)Aga>Cga	p.R3671R	DMD_ENST00000378723.3_Silent_p.R603R|DMD_ENST00000343523.2_Silent_p.R1101R|DMD_ENST00000378702.4_Silent_p.R603R|DMD_ENST00000378680.2_Silent_p.R493R|DMD_ENST00000361471.4_Silent_p.R590R|DMD_ENST00000378677.2_Silent_p.R3667R|DMD_ENST00000359836.1_Silent_p.R1198R|DMD_ENST00000541735.1_Silent_p.R1101R|DMD_ENST00000474231.1_Silent_p.R1211R|DMD_ENST00000378707.3_Silent_p.R1211R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3671					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCTTACCTCTTGAACTAGGG	0.488																																																	0													193.0	120.0	145.0					X																	31152222		2202	4300	6502	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.11011A>C	X.37:g.31152222T>G			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R3671	ENST00000357033.4	37	c.11011	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287105	0.23478	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	T	0.70228	0.3200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69892	-0.5022	4	.	.	.	.	14.0965	0.65027	0.0:0.0:0.0:1.0	.	.	.	.	T	1399	.	.	K	-	2	0	DMD	31062143	0.998000	0.40836	0.904000	0.35570	0.978000	0.69477	3.120000	0.50430	1.973000	0.57446	0.486000	0.48141	AAG	DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.488	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0.00	18	0	T	NM_004006		31152222	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	80.00	3	16	SNP	0.956	G
DOCK2	1794	genome.wustl.edu	37	5	169097602	169097602	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:169097602G>T	ENST00000256935.8	+	4	304		c.e4+1			NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAAGAAGGTATTTGCCAT	0.378																																																	0													103.0	98.0	100.0					5																	169097602		2203	4300	6503	SO:0001630	splice_region_variant	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.224+1G>T	5.37:g.169097602G>T			Q2M3I0|Q96AK7	Splice_Site	SNP	-	e4+1	ENST00000256935.8	37	c.224+1	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654126	0.88056	.	.	ENSG00000134516	ENST00000256935	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5905	0.95508	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK2	169030180	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.472000	0.90407	2.627000	0.88993	0.563000	0.77884	.	DOCK2	-	-	ENSG00000134516		0.378	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0.00	54	0	G	NM_004946	Intron	169097602	+1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	splice_site	10.00	27	3	SNP	1.000	T
DOCK2	1794	genome.wustl.edu	37	5	169506071	169506071	+	Missense_Mutation	SNP	G	G	A	rs371229305		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:169506071G>A	ENST00000256935.8	+	49	5167	c.5087G>A	c.(5086-5088)cGg>cAg	p.R1696Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.R1188Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R757Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1696					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAAGCTGCGGAGGTCCAAG	0.572																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	88.0	88.0		5087	4.7	0.9	5		88	0,8600		0,0,4300	no	missense	DOCK2	NM_004946.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1696/1831	169506071	1,13005	2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5087G>A	5.37:g.169506071G>A	ENSP00000256935:p.Arg1696Gln		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.R1696Q	ENST00000256935.8	37	c.5087	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925589	0.92319	2.27E-4	0.0	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09723	3.65;3.26;2.95	4.72	4.72	0.59763	.	0.114391	0.56097	D	0.000024	T	0.19446	0.0467	L	0.27053	0.805	0.37226	D	0.905457	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.992;0.994;0.978	T	0.15578	-1.0432	10	0.14656	T	0.56	.	16.8865	0.86077	0.0:0.0:1.0:0.0	.	1188;252;1696	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Q	1696;1188;757	ENSP00000256935:R1696Q;ENSP00000429283:R1188Q;ENSP00000438827:R757Q	ENSP00000256935:R1696Q	R	+	2	0	DOCK2	169438649	1.000000	0.71417	0.937000	0.37676	0.893000	0.52053	6.631000	0.74277	2.341000	0.79615	0.585000	0.79938	CGG	DOCK2	-	NULL	ENSG00000134516		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0.00	46	0	G	NM_004946		169506071	+1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	21.95	32	9	SNP	0.999	A
DOPEY1	23033	genome.wustl.edu	37	6	83878105	83878105	+	3'UTR	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:83878105A>T	ENST00000349129.2	+	0	7877				DOPEY1_ENST00000237163.5_3'UTR|PGM3_ENST00000512866.1_Intron|DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000513973.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TAAGAGAGCTATATATATACA	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.*219A>T	6.37:g.83878105A>T			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	RNA	SNP	-	NULL	ENST00000349129.2	37	NULL	CCDS4996.1	6																																																																																			DOPEY1	-	-	ENSG00000083097		0.303	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	-	0.00	40	0	A	NM_015018		83878105	+1	tier1	-	no_errors	ENST00000484282	ensembl	human	known	74_37	rna	13.33	26	4	SNP	0.002	T
DPP4	1803	genome.wustl.edu	37	2	162881326	162881326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:162881326C>T	ENST00000360534.3	-	11	1571	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	337					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CTAAGCAGTTCCATCTTCCAC	0.468																																																	0													224.0	200.0	208.0					2																	162881326		2203	4300	6503	SO:0001587	stop_gained	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1011G>A	2.37:g.162881326C>T	ENSP00000353731:p.Trp337*		Q53TN1	Nonsense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.W337*	ENST00000360534.3	37	c.1011	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	C	44	10.895569	0.99484	.	.	ENSG00000197635	ENST00000360534	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.1528	17.0959	0.86635	0.0:1.0:0.0:0.0	.	.	.	.	X	337	.	ENSP00000353731:W337X	W	-	3	0	DPP4	162589572	0.993000	0.37304	0.784000	0.31847	0.951000	0.60555	3.400000	0.52594	2.563000	0.86464	0.655000	0.94253	TGG	DPP4	-	pfam_Peptidase_S9B	ENSG00000197635		0.468	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2		0.00	47	0	C			162881326	-1			no_errors	ENST00000360534	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.994	T
DSCAML1	57453	genome.wustl.edu	37	11	117321308	117321308	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:117321308C>T	ENST00000321322.6	-	20	3846	c.3845G>A	c.(3844-3846)cGc>cAc	p.R1282H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1012H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1222	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Ig-like C2-type 10.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGTACTTGCGGATCACCCC	0.567																																																	0													60.0	56.0	57.0					11																	117321308		2201	4296	6497	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3845G>A	11.37:g.117321308C>T	ENSP00000315465:p.Arg1282His		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1282H	ENST00000321322.6	37	c.3845	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.307632	0.95629	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.57752	0.38;0.38	4.42	4.42	0.53409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71685	0.3369	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.74262	-0.3722	9	0.54805	T	0.06	.	18.3455	0.90321	0.0:1.0:0.0:0.0	.	1222	Q8TD84	DSCL1_HUMAN	H	1012;1282;989	ENSP00000434335:R1012H;ENSP00000315465:R1282H	ENSP00000315465:R1282H	R	-	2	0	DSCAML1	116826518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.805000	0.69143	2.741000	0.93983	0.585000	0.79938	CGC	DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000177103		0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0.00	80	0	C	NM_020693		117321308	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
DUSP13	51207	genome.wustl.edu	37	10	76854632	76854632	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:76854632G>T	ENST00000472493.2	-	4	477	c.399C>A	c.(397-399)cgC>cgA	p.R133R	DUSP13_ENST00000491677.2_Silent_p.R262R|DUSP13_ENST00000372700.3_Silent_p.R183R|DUSP13_ENST00000607131.1_Silent_p.R226R|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000464872.1_Silent_p.R82R|DUSP13_ENST00000478873.2_Silent_p.R269R|DUSP13_ENST00000605915.1_Silent_p.R155R|DUSP13_ENST00000372702.3_3'UTR	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	133	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R262R(1)|p.R133R(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTACCAGCACGCGGCCTGTAG	0.562																																					NSCLC(174;1655 2059 12324 40663 42963)												2	Substitution - coding silent(2)	large_intestine(2)											86.0	65.0	72.0					10																	76854632		2203	4300	6503	SO:0001819	synonymous_variant	0			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.399C>A	10.37:g.76854632G>T			A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.R262	ENST00000472493.2	37	c.786	CCDS7346.1	10																																																																																			DUSP13	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000079393		0.562	DUSP13-004	KNOWN	basic|CCDS	protein_coding	DUSP13	HGNC	protein_coding	OTTHUMT00000048786.3		0.00	16	0	G			76854632	-1			no_errors	ENST00000491677	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.325	T
ECM2	1842	genome.wustl.edu	37	9	95263199	95263199	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:95263199G>T	ENST00000344604.5	-	9	1890	c.1741C>A	c.(1741-1743)Cca>Aca	p.P581T	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.P559T	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	581					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCCAGGCCTGGTTCCATGTGG	0.478																																																	0													158.0	138.0	145.0					9																	95263199		2203	4300	6503	SO:0001583	missense	0			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1741C>A	9.37:g.95263199G>T	ENSP00000344758:p.Pro581Thr		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.P581T	ENST00000344604.5	37	c.1741	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749608	0.89753	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.60299	0.2;0.2	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.48877	1.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.91635	0.993;0.999;0.914	T	0.73720	-0.3894	10	0.72032	D	0.01	.	19.4519	0.94871	0.0:0.0:1.0:0.0	.	581;559;559	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	T	559;581	ENSP00000393971:P559T;ENSP00000344758:P581T	ENSP00000344758:P581T	P	-	1	0	ECM2	94303020	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.581000	0.82535	2.676000	0.91093	0.591000	0.81541	CCA	ECM2	-	NULL	ENSG00000106823		0.478	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1		0.00	48	0	G	NM_001393		95263199	-1			no_errors	ENST00000344604	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
EDEM3	80267	genome.wustl.edu	37	1	184681718	184681721	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	AAGA	AAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:184681718_184681721delAAGA	ENST00000318130.8	-	14	1648_1651	c.1382_1385delTCTT	c.(1381-1386)ttcttcfs	p.FF461fs	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Frame_Shift_Del_p.FF418fs	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	461					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCAGCCAAGAAGAAAGAATCCAT	0.265																																																	0																																										SO:0001589	frameshift_variant	0			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1382_1385delTCTT	1.37:g.184681722_184681725delAAGA	ENSP00000318147:p.Phe461fs		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Frame_Shift_Del	DEL	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.F461fs	ENST00000318130.8	37	c.1385_1382	CCDS1363.2	1																																																																																			EDEM3	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000116406		0.265	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3		0.00	98	0	AAGA	NM_025191		184681721	-1	tier1		no_errors	ENST00000318130	ensembl	human	known	74_37	frame_shift_del	20.29	55	14	DEL	1.000:1.000:1.000:1.000	-
EFR3B	22979	genome.wustl.edu	37	2	25344633	25344633	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:25344633C>G	ENST00000403714.3	+	5	638	c.455C>G	c.(454-456)tCg>tGg	p.S152W	EFR3B_ENST00000405108.1_Missense_Mutation_p.S4W|EFR3B_ENST00000401432.3_Missense_Mutation_p.S152W|EFR3B_ENST00000402191.1_Missense_Mutation_p.S117W	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	152										endometrium(1)	1						ATGTGCCACTCGAGCCATGAT	0.493																																																	0													81.0	67.0	71.0					2																	25344633		692	1591	2283	SO:0001583	missense	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.455C>G	2.37:g.25344633C>G	ENSP00000384081:p.Ser152Trp		B7WPL8|Q86XU6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S152W	ENST00000403714.3	37	c.455	CCDS46231.1	2	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532862	0.64972	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169;ENST00000405108;ENST00000264719	T;T;T;T;T	0.71461	-0.32;-0.32;-0.57;1.17;2.15	4.47	3.58	0.41010	Armadillo-like helical (1);Armadillo-type fold (1);	0.061993	0.64402	D	0.000002	D	0.82986	0.5156	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85133	0.0976	10	0.87932	D	0	-15.8965	13.2419	0.60002	0.0:0.8391:0.1609:0.0	.	152;152	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	W	152;152;117;117;4;31	ENSP00000386082:S152W;ENSP00000384081:S152W;ENSP00000385832:S117W;ENSP00000384454:S4W;ENSP00000264719:S31W	ENSP00000264719:S31W	S	+	2	0	EFR3B	25198137	1.000000	0.71417	0.979000	0.43373	0.945000	0.59286	4.533000	0.60615	1.086000	0.41228	0.561000	0.74099	TCG	EFR3B	-	superfamily_ARM-type_fold	ENSG00000084710		0.493	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1		0.00	48	0	C	NM_014971		25344633	+1			no_errors	ENST00000403714	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.996	G
EIF3A	8661	genome.wustl.edu	37	10	120817707	120817707	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:120817707C>T	ENST00000369144.3	-	12	1865	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.E546K	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCAAGGCGCTCTTTTCTCTCC	0.498																																																	0													54.0	48.0	50.0					10																	120817707		2203	4300	6503	SO:0001583	missense	0			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1738G>A	10.37:g.120817707C>T	ENSP00000358140:p.Glu580Lys		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.E580K	ENST00000369144.3	37	c.1738	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748130	0.89663	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.51071	0.72;0.72	5.5	5.5	0.81552	.	0.000000	0.39475	N	0.001344	T	0.73353	0.3576	M	0.85197	2.74	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.75642	-0.3247	10	0.54805	T	0.06	-23.456	19.775	0.96388	0.0:1.0:0.0:0.0	.	580	Q14152	EIF3A_HUMAN	K	580;546	ENSP00000358140:E580K;ENSP00000438178:E546K	ENSP00000358140:E580K	E	-	1	0	EIF3A	120807697	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.741000	0.84997	2.741000	0.93983	0.585000	0.79938	GAG	EIF3A	-	NULL	ENSG00000107581		0.498	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	-	0.00	49	0	C	NM_003750		120817707	-1	tier1	-	no_errors	ENST00000369144	ensembl	human	known	74_37	missense	42.59	31	23	SNP	1.000	T
EIF5B	9669	genome.wustl.edu	37	2	99978108	99978108	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:99978108G>T	ENST00000289371.6	+	4	946	c.744G>T	c.(742-744)gcG>gcT	p.A248A		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	248					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGAAAAAGCGAAACTGCGGA	0.388																																					Colon(162;2388 2567 2705 3444)												0													57.0	58.0	58.0					2																	99978108		1821	4081	5902	SO:0001819	synonymous_variant	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.744G>T	2.37:g.99978108G>T			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.A248	ENST00000289371.6	37	c.744	CCDS42721.1	2																																																																																			EIF5B	-	NULL	ENSG00000158417		0.388	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2		0.00	36	0	G	NM_015904		99978108	+1			no_errors	ENST00000289371	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.976	T
ELMSAN1	91748	genome.wustl.edu	37	14	74205351	74205351	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:74205351G>A	ENST00000286523.5	-	2	2143	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.T454M|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCTCCGTCGCGTGCTCTGGAT	0.662																																																	0													52.0	48.0	49.0					14																	74205351		2203	4299	6502	SO:0001583	missense	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1361C>T	14.37:g.74205351G>A	ENSP00000286523:p.Thr454Met		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.T454M	ENST00000286523.5	37	c.1361	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269256	0.59540	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.19105	2.18;2.18;2.18;2.17	4.69	4.69	0.59074	.	0.081565	0.51477	D	0.000084	T	0.32526	0.0832	L	0.32530	0.975	0.51233	D	0.999916	D;D	0.89917	0.997;1.0	P;D	0.71656	0.664;0.974	T	0.05517	-1.0880	10	0.87932	D	0	-12.4349	11.1738	0.48588	0.0851:0.0:0.9149:0.0	.	454;454	A0PJD3;Q6PJG2	.;CN043_HUMAN	M	454	ENSP00000377634:T454M;ENSP00000286523:T454M;ENSP00000407767:T454M;ENSP00000402380:T454M	ENSP00000286523:T454M	T	-	2	0	C14orf43	73275104	1.000000	0.71417	0.914000	0.36105	0.760000	0.43138	7.674000	0.83992	2.163000	0.67991	0.491000	0.48974	ACG	ELMSAN1	-	NULL	ENSG00000156030		0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	-	0.00	18	0	G	NM_194278		74205351	-1	tier1	-	no_errors	ENST00000286523	ensembl	human	known	74_37	missense	47.37	10	9	SNP	0.997	A
ENC1	8507	genome.wustl.edu	37	5	73930815	73930815	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:73930815C>T	ENST00000302351.4	-	2	2626	c.1496G>A	c.(1495-1497)gGt>gAt	p.G499D	ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000510316.1_Missense_Mutation_p.G426D|ENC1_ENST00000537006.1_Missense_Mutation_p.G499D	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	499				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TTCTGTATCACCCCCCATAAT	0.517																																																	0													68.0	76.0	73.0					5																	73930815		2203	4300	6503	SO:0001583	missense	0			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1496G>A	5.37:g.73930815C>T	ENSP00000306356:p.Gly499Asp		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G499D	ENST00000302351.4	37	c.1496	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026400	0.75390	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	D;D;D	0.99494	-6.01;-6.01;-6.01	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98292	1.0514	10	0.87932	D	0	.	20.0212	0.97504	0.0:1.0:0.0:0.0	.	499	O14682	ENC1_HUMAN	D	499;426;499	ENSP00000306356:G499D;ENSP00000423804:G426D;ENSP00000446289:G499D	ENSP00000306356:G499D	G	-	2	0	ENC1	73966571	1.000000	0.71417	0.778000	0.31720	0.933000	0.57130	7.818000	0.86416	2.735000	0.93741	0.561000	0.74099	GGT	ENC1	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000171617		0.517	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	HGNC	protein_coding	OTTHUMT00000219862.2	-	0.00	31	0	C	NM_003633		73930815	-1	tier1	-	no_errors	ENST00000302351	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T
AC099552.4	0	genome.wustl.edu	37	7	154988635	154988635	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:154988635G>T	ENST00000404289.1	-	3	343	c.208C>A	c.(208-210)Ctt>Att	p.L70I																								tttcatcaaagtttcagggct	0.498																																																	0																																										SO:0001583	missense	0																														ENST00000404289.1:c.208C>A	7.37:g.154988635G>T	ENSP00000386035:p.Leu70Ile			Missense_Mutation	SNP	NULL	p.L70I	ENST00000404289.1	37	c.208		7	.	.	.	.	.	.	.	.	.	.	G	7.266	0.606189	0.14002	.	.	ENSG00000217825	ENST00000404289	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.53077	0.1774	.	.	.	.	.	.	.	.	.	.	.	.	T	0.62358	-0.6871	3	0.87932	D	0	.	.	.	.	.	.	.	.	I	70	.	ENSP00000386035:L70I	L	-	1	0	AC099552.4	154619568	0.824000	0.29247	0.576000	0.28549	0.578000	0.36192	0.251000	0.18257	0.192000	0.20272	0.195000	0.17529	CTT	AC099552.4	-	NULL	ENSG00000217825		0.498	AC099552.4-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000217825	Clone_based_vega_gene	protein_coding	OTTHUMT00000322236.1	-	0.00	42	0	G			154988635	-1	tier1	-	no_errors	ENST00000404289	ensembl	human	putative	74_37	missense	10.81	33	4	SNP	0.643	T
EPN2	22905	genome.wustl.edu	37	17	19238487	19238488	+	3'UTR	INS	-	-	A	rs140366250	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:19238487_19238488insA	ENST00000314728.5	+	0	3330_3331				EPN2_ENST00000395618.3_3'UTR|RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395620.2_3'UTR|EPN2_ENST00000347697.2_3'UTR	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2						embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GATGTTTATTTAAAAAAAAAAC	0.307																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.*921->A	17.37:g.19238497_19238497dupA			A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	RNA	INS	-	NULL	ENST00000314728.5	37	NULL	CCDS11203.1	17																																																																																			RP11-135L13.4	-	-	ENSG00000265263		0.307	EPN2-001	KNOWN	basic|CCDS	protein_coding	ENSG00000265263	Clone_based_vega_gene	protein_coding	OTTHUMT00000132283.3		0.00	80	0	-	NM_014964		19238488	-1	tier1		no_errors	ENST00000581122	ensembl	human	known	74_37	rna	11.63	38	5	INS	0.043:0.039	A
ASIC2	40	genome.wustl.edu	37	17	31439098	31439099	+	Intron	DEL	AG	AG	-	rs140895516		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:31439098_31439099delAG	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_Intron|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000225823.2_Intron	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GAAGGAGAGAAGAGAGAGAGAG	0.53																																																	0																																										SO:0001627	intron_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-13CT>-	17.37:g.31439108_31439109delAG			E9PBX2|Q13553|Q6DJU1|Q8N3E2	RNA	DEL	-	NULL	ENST00000359872.6	37	NULL	CCDS42296.1	17																																																																																			RP11-40A13.1	-	-	ENSG00000266535		0.530	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266535	Clone_based_vega_gene	protein_coding	OTTHUMT00000447552.1		0.00	24	0	AG	NM_183377, NM_001094		31439099	+1	tier1		no_errors	ENST00000584688	ensembl	human	known	74_37	rna	16.00	21	4	DEL	0.563:0.970	-
UCKL1	54963	genome.wustl.edu	37	20	62585043	62585044	+	Intron	INS	-	-	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:62585043_62585044insA	ENST00000354216.6	-	1	156				UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000369892.3_Intron|UCKL1_ENST00000369908.5_5'Flank|AL118506.1_ENST00000595604.1_Frame_Shift_Ins_p.Q13fs	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1						CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					actctatctccaaaaaaaaaag	0.545																																																	0																																										SO:0001627	intron_variant	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.113+2568->T	20.37:g.62585053_62585053dupA			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Frame_Shift_Ins	INS	NULL	p.K17fs	ENST00000354216.6	37	c.37_38	CCDS13547.1	20																																																																																			AL118506.1	-	NULL	ENSG00000267848		0.545	UCKL1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000267848	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000080236.1		0.00	17	0	-	NM_017859		62585044	+1	tier1		no_errors	ENST00000595604	ensembl	human	known	74_37	frame_shift_ins	9.68	28	3	INS	0.023:0.024	A
UCKL1	54963	genome.wustl.edu	37	20	62585044	62585044	+	Intron	DEL	A	A	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:62585044delA	ENST00000354216.6	-	1	156				UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000369892.3_Intron|UCKL1_ENST00000369908.5_5'Flank|AL118506.1_ENST00000595604.1_Frame_Shift_Del_p.Q13fs	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1						CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ctctatctccaaaaaaaaaag	0.547																																																	0																																										SO:0001627	intron_variant	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.113+2568T>-	20.37:g.62585044delA			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Frame_Shift_Del	DEL	NULL	p.K16fs	ENST00000354216.6	37	c.38	CCDS13547.1	20																																																																																			AL118506.1	-	NULL	ENSG00000267848		0.547	UCKL1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000267848	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000080236.1		0.00	17	0	A	NM_017859		62585044	+1	tier1		no_errors	ENST00000595604	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.024	-
DPH5	51611	genome.wustl.edu	37	1	101456192	101456193	+	Intron	INS	-	-	A	rs375338713		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:101456192_101456193insA	ENST00000370109.3	-	8	747				DPH5_ENST00000370105.3_Intron|AC093157.1_ENST00000593496.1_Frame_Shift_Ins_p.K63fs|DPH5_ENST00000427040.2_Intron|DPH5_ENST00000342173.7_Intron|DPH5_ENST00000488176.1_Intron	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TAACTGCTATTAAAAAAAAAAG	0.416																																																	0																																										SO:0001627	intron_variant	0			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.635-5->T	1.37:g.101456202_101456202dupA			A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Frame_Shift_Ins	INS	NULL	p.R65fs	ENST00000370109.3	37	c.186_187	CCDS41358.1	1																																																																																			AC093157.1	-	NULL	ENSG00000269175		0.416	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000269175	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000029881.1		0.00	44	0	-	NM_015958		101456193	+1	tier1		no_errors	ENST00000593496	ensembl	human	known	74_37	frame_shift_ins	15.38	22	4	INS	0.576:0.002	A
WASH6P	653440	genome.wustl.edu	37	X	155250796	155250796	+	RNA	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:155250796C>T	ENST00000461007.1	+	0	0				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										caccccgcaccagggaggatg	0.587																																																	0																																												0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155250796C>T			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X	.	.	.	.	.	.	.	.	.	.	c	10.32	1.318673	0.23994	.	.	ENSG00000182484	ENST00000285718	.	.	.	0.379	0.379	0.16213	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	.	.	.	.	.	.	.	X	31	.	ENSP00000285718:Q31X	Q	+	1	0	WASH6P	154903990	0.002000	0.14202	0.006000	0.13384	0.037000	0.13140	-0.610000	0.05629	0.418000	0.25898	0.171000	0.16805	CAG	AJ271736.10	-	-	ENSG00000270726		0.587	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	Clone_based_vega_gene	pseudogene	OTTHUMT00000058840.1	-	0.00	23	0	C	NG_008380		155250796	+1	tier1	-	no_errors	ENST00000285718	ensembl	human	known	74_37	rna	54.55	10	12	SNP	0.006	T
ENTPD2	954	genome.wustl.edu	37	9	139944964	139944964	+	Silent	SNP	C	C	T	rs371567979		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:139944964C>T	ENST00000355097.2	-	6	848	c.801G>A	c.(799-801)ccG>ccA	p.P267P	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Silent_p.P267P	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	267					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AAAAGCCCCTCGGCCAGCAGG	0.647											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		17177	0.001		0.0	False		,,,				2504	0.0																0								C	,	0,4394		0,0,2197	29.0	27.0	28.0		801,801	-8.3	0.1	9		28	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	ENTPD2	NM_001246.2,NM_203468.1	,	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	,	267/473,267/496	139944964	1,12987	2197	4297	6494	SO:0001819	synonymous_variant	0			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.801G>A	9.37:g.139944964C>T		1652	O15464|Q5SPY6|Q5SPY7	Silent	SNP	pfam_GDA1_CD39_NTPase	p.P267	ENST00000355097.2	37	c.801	CCDS7026.1	9																																																																																			ENTPD2	-	pfam_GDA1_CD39_NTPase	ENSG00000054179		0.647	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD2	HGNC	protein_coding	OTTHUMT00000055169.1	-	0.00	80	0	C	NM_203468		139944964	-1	tier1	-	no_errors	ENST00000355097	ensembl	human	known	74_37	silent	51.79	27	29	SNP	0.000	T
EPB41L3	23136	genome.wustl.edu	37	18	5398072	5398072	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:5398072T>G	ENST00000341928.2	-	17	2760	c.2420A>C	c.(2419-2421)aAa>aCa	p.K807T	EPB41L3_ENST00000427684.2_Missense_Mutation_p.K104T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K807T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K638T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.K112T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	807	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCTGTTGGTTTTCGCGCAGA	0.463																																																	0													226.0	231.0	229.0					18																	5398072		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2420A>C	18.37:g.5398072T>G	ENSP00000343158:p.Lys807Thr		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.K807T	ENST00000341928.2	37	c.2420	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168951	0.78339	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	D;D;T;T;D	0.83075	-1.52;-1.68;-0.77;-0.73;-1.52	6.17	6.17	0.99709	.	0.325584	0.35739	N	0.003004	D	0.89945	0.6862	M	0.70595	2.14	0.58432	D	0.999991	D;P;P;P;D	0.89917	1.0;0.605;0.912;0.469;0.999	D;B;P;B;D	0.83275	0.996;0.154;0.628;0.118;0.94	D	0.87358	0.2342	10	0.21014	T	0.42	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	638;104;112;199;807	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	T	807;638;104;112;807	ENSP00000343158:K807T;ENSP00000441174:K638T;ENSP00000392195:K104T;ENSP00000442233:K112T;ENSP00000341138:K807T	ENSP00000343158:K807T	K	-	2	0	EPB41L3	5388072	1.000000	0.71417	0.906000	0.35671	0.993000	0.82548	5.753000	0.68736	2.371000	0.80710	0.533000	0.62120	AAA	EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.463	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0.00	33	0	T	NM_012307		5398072	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	56.00	11	14	SNP	1.000	G
EPHA3	2042	genome.wustl.edu	37	3	89445011	89445011	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:89445011A>G	ENST00000336596.2	+	6	1556	c.1331A>G	c.(1330-1332)aAg>aGg	p.K444R	EPHA3_ENST00000494014.1_Missense_Mutation_p.K444R|EPHA3_ENST00000452448.2_Missense_Mutation_p.K444R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	444	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGACGATTAAGAAAGATCGG	0.443										TSP Lung(6;0.00050)																																							0													159.0	152.0	154.0					3																	89445011		2203	4300	6503	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1331A>G	3.37:g.89445011A>G	ENSP00000337451:p.Lys444Arg		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K444R	ENST00000336596.2	37	c.1331	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	4.691	0.128574	0.08981	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.57436	0.4;0.4;0.4	5.66	3.01	0.34805	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.141333	0.64402	N	0.000009	T	0.26122	0.0637	N	0.11313	0.125	0.33912	D	0.639762	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.16305	-1.0407	9	.	.	.	.	4.7347	0.12982	0.5735:0.0:0.4265:0.0	.	444;444	P29320;P29320-2	EPHA3_HUMAN;.	R	444	ENSP00000337451:K444R;ENSP00000399926:K444R;ENSP00000419190:K444R	.	K	+	2	0	EPHA3	89527701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.423000	0.52756	1.075000	0.40932	0.533000	0.62120	AAG	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000044524		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	-	0.00	38	0	A	NM_005233		89445011	+1	tier1	-	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	54.55	15	18	SNP	1.000	G
EPHA6	285220	genome.wustl.edu	37	3	97194249	97194249	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:97194249G>A	ENST00000514100.1	+	5	366	c.124G>A	c.(124-126)Gtt>Att	p.V42I	EPHA6_ENST00000389672.5_Missense_Mutation_p.V650I|EPHA6_ENST00000442602.2_Missense_Mutation_p.V16I|EPHA6_ENST00000502694.1_Missense_Mutation_p.V42I	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	556	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACCGCCGCTGTTGGCGGATT	0.428																																																	0													83.0	85.0	84.0					3																	97194249		1914	4128	6042	SO:0001583	missense	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.124G>A	3.37:g.97194249G>A	ENSP00000421711:p.Val42Ile		D6RAL5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V650I	ENST00000514100.1	37	c.1948		3	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904778	0.72868	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	6.07	6.07	0.98685	.	.	.	.	.	T	0.32496	0.0831	L	0.48174	1.505	0.58432	D	0.999993	D;P;D;D	0.67145	0.995;0.677;0.996;0.995	D;B;D;D	0.76071	0.984;0.272;0.987;0.985	T	0.00216	-1.1910	9	0.24483	T	0.36	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	16;555;42;42	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	I	650;42;42;16	ENSP00000374323:V650I;ENSP00000421711:V42I;ENSP00000423950:V42I;ENSP00000403100:V16I	ENSP00000374323:V650I	V	+	1	0	EPHA6	98676939	1.000000	0.71417	0.399000	0.26333	0.188000	0.23474	8.689000	0.91265	2.885000	0.99019	0.655000	0.94253	GTT	EPHA6	-	NULL	ENSG00000080224		0.428	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	-	0.00	52	0	G	NM_001080448		97194249	+1	tier1	-	no_errors	ENST00000389672	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.997	A
ERAP2	64167	genome.wustl.edu	37	5	96222452	96222452	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:96222452G>A	ENST00000437043.3	+	4	1519	c.808G>A	c.(808-810)Gat>Aat	p.D270N	ERAP2_ENST00000510309.1_Missense_Mutation_p.D270N|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	270					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CATAGTTTGTGATTTCCACTC	0.413																																																	0													144.0	141.0	142.0					5																	96222452		2203	4300	6503	SO:0001583	missense	0			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.808G>A	5.37:g.96222452G>A	ENSP00000400376:p.Asp270Asn		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D270N	ENST00000437043.3	37	c.808	CCDS4086.1	5	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612641	0.87258	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000510309	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	5.1	5.1	0.69264	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	M	0.66560	2.04	0.45515	D	0.998475	P	0.45212	0.853	P	0.58266	0.836	T	0.00045	-1.2218	10	0.51188	T	0.08	.	9.9945	0.41891	0.0931:0.0:0.9069:0.0	.	270	Q6P179	ERAP2_HUMAN	N	270	ENSP00000400376:D270N;ENSP00000421175:D270N;ENSP00000421849:D270N;ENSP00000425758:D270N	ENSP00000400376:D270N	D	+	1	0	ERAP2	96248208	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.499000	0.60380	2.542000	0.85734	0.563000	0.77884	GAT	ERAP2	-	pfam_Peptidase_M1_N	ENSG00000164308		0.413	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2	-	0.00	50	0	G	NM_022350		96222452	+1	tier1	-	no_errors	ENST00000437043	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	A
ETAA1	54465	genome.wustl.edu	37	2	67630382	67630382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:67630382G>T	ENST00000272342.5	+	5	698	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	190						cytoplasm (GO:0005737)		p.E190*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TCAAGAAGAAGAACTTATGAA	0.264																																																	1	Substitution - Nonsense(1)	large_intestine(1)											24.0	29.0	27.0					2																	67630382		2133	4253	6386	SO:0001587	stop_gained	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.568G>T	2.37:g.67630382G>T	ENSP00000272342:p.Glu190*		Q05BT7|Q53SC4	Nonsense_Mutation	SNP	NULL	p.E190*	ENST00000272342.5	37	c.568	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.653235	0.97739	.	.	ENSG00000143971	ENST00000272342	.	.	.	6.16	6.16	0.99307	.	0.110694	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7163	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000272342:E190X	E	+	1	0	ETAA1	67483886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.096000	0.76960	2.937000	0.99478	0.650000	0.86243	GAA	ETAA1	-	NULL	ENSG00000143971		0.264	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0.00	60	0	G	NM_019002		67630382	+1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	1.000	T
EVPL	2125	genome.wustl.edu	37	17	74005674	74005674	+	Silent	SNP	C	C	T	rs370565249		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:74005674C>T	ENST00000301607.3	-	22	3865	c.3612G>A	c.(3610-3612)ccG>ccA	p.P1204P	EVPL_ENST00000586740.1_Silent_p.P1226P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1204	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						GCTCTGTCTCCGGATCCACCT	0.627																																																	0													87.0	72.0	77.0					17																	74005674		2203	4300	6503	SO:0001819	synonymous_variant	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.3612G>A	17.37:g.74005674C>T			A0AUV5	Silent	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.P1204	ENST00000301607.3	37	c.3612	CCDS11737.1	17																																																																																			EVPL	-	superfamily_Ferritin-like_SF,smart_Plectin_repeat	ENSG00000167880		0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	-	0.00	28	0	C	NM_001988		74005674	-1	tier1	-	no_errors	ENST00000301607	ensembl	human	known	74_37	silent	66.67	2	4	SNP	0.008	T
FAAH	2166	genome.wustl.edu	37	1	46876041	46876041	+	Intron	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:46876041G>T	ENST00000243167.8	+	10	1259					NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase						fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGGGATGGGAGTGCCTGGACC	0.577																																																	0													195.0	200.0	198.0					1																	46876041		2203	4300	6503	SO:0001627	intron_variant	0			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1176-29G>T	1.37:g.46876041G>T			D3DQ19|Q52M86|Q5TDF8	RNA	SNP	-	NULL	ENST00000243167.8	37	NULL	CCDS535.1	1																																																																																			FAAH	-	-	ENSG00000117480		0.577	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	-	0.00	74	0	G	NM_001441		46876041	+1	tier1	-	no_errors	ENST00000493636	ensembl	human	known	74_37	rna	5.63	67	4	SNP	0.000	T
FAM111A	63901	genome.wustl.edu	37	11	58919796	58919796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:58919796G>T	ENST00000528737.1	+	5	3473	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	FAM111A_ENST00000420244.1_Nonsense_Mutation_p.E219*|FAM111A_ENST00000531147.1_Nonsense_Mutation_p.E219*|FAM111A_ENST00000361723.3_Nonsense_Mutation_p.E219*|FAM111A_ENST00000533703.1_Nonsense_Mutation_p.E219*			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	219					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTCAAAGGAGAAACCATCAA	0.388																																																	0													119.0	120.0	120.0					11																	58919796		2201	4295	6496	SO:0001587	stop_gained	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.655G>T	11.37:g.58919796G>T	ENSP00000434435:p.Glu219*		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Nonsense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.E219*	ENST00000528737.1	37	c.655	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.605233	0.97701	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	.	.	.	5.8	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.7998	14.4194	0.67173	0.0:0.1478:0.8522:0.0	.	.	.	.	X	219	.	ENSP00000355264:E219X	E	+	1	0	FAM111A	58676372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.214000	0.58527	1.570000	0.49709	0.650000	0.86243	GAA	FAM111A	-	NULL	ENSG00000166801		0.388	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1		0.00	69	0	G	NM_022074		58919796	+1			no_errors	ENST00000361723	ensembl	human	known	74_37	nonsense	6.82	41	3	SNP	1.000	T
FAM111A	63901	genome.wustl.edu	37	11	58919900	58919900	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:58919900C>T	ENST00000528737.1	+	5	3577	c.759C>T	c.(757-759)acC>acT	p.T253T	FAM111A_ENST00000420244.1_Silent_p.T253T|FAM111A_ENST00000531147.1_Silent_p.T253T|FAM111A_ENST00000361723.3_Silent_p.T253T|FAM111A_ENST00000533703.1_Silent_p.T253T			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	253					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TAGAAAGCACCCAGCCAGTTG	0.428																																																	0													97.0	96.0	97.0					11																	58919900		2201	4295	6496	SO:0001819	synonymous_variant	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.759C>T	11.37:g.58919900C>T			A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.T253	ENST00000528737.1	37	c.759	CCDS7973.1	11																																																																																			FAM111A	-	NULL	ENSG00000166801		0.428	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1		0.00	26	0	C	NM_022074		58919900	+1			no_errors	ENST00000361723	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.025	T
FAM160B1	57700	genome.wustl.edu	37	10	116602761	116602761	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:116602761G>T	ENST00000369248.4	+	6	927	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	FAM160B1_ENST00000369250.3_Missense_Mutation_p.D198Y	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	198								p.D198Y(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AAAAGGTCAGGATTCCTTGTC	0.378																																																	2	Substitution - Missense(2)	lung(2)											91.0	79.0	83.0					10																	116602761		2203	4300	6503	SO:0001583	missense	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.592G>T	10.37:g.116602761G>T	ENSP00000358251:p.Asp198Tyr		Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.D198Y	ENST00000369248.4	37	c.592	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373241	0.61624	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.15372	2.43;2.43	5.75	5.75	0.90469	.	0.395239	0.33253	N	0.005106	T	0.30947	0.0781	L	0.50333	1.59	0.80722	D	1	B;B	0.30193	0.203;0.272	P;B	0.44732	0.459;0.235	T	0.04840	-1.0923	10	0.72032	D	0.01	-10.6485	18.1307	0.89600	0.0:0.0:1.0:0.0	.	198;198	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	Y	198	ENSP00000358251:D198Y;ENSP00000358253:D198Y	ENSP00000358251:D198Y	D	+	1	0	FAM160B1	116592751	0.982000	0.34865	0.710000	0.30468	0.977000	0.68977	4.336000	0.59304	2.732000	0.93576	0.655000	0.94253	GAT	FAM160B1	-	pfam_RetinoicA-induced_16-like	ENSG00000151553		0.378	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1		0.00	51	0	G	XM_049351		116602761	+1			no_errors	ENST00000369248	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.998	T
FAM179B	23116	genome.wustl.edu	37	14	45433174	45433174	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:45433174C>T	ENST00000361577.3	+	1	1764	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L	KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.P517L|KLHL28_ENST00000553817.1_5'UTR|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.P517L	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	517										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GATCTTGCCCCAGCTCTTGTA	0.483																																																	0													127.0	114.0	118.0					14																	45433174		2203	4300	6503	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1550C>T	14.37:g.45433174C>T	ENSP00000355045:p.Pro517Leu		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P517L	ENST00000361577.3	37	c.1550	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118495	0.77323	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.73789	-0.78;-0.78;-0.78	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	D	0.84437	0.5472	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.978;1.0;0.999;0.978	P;D;D;P	0.91635	0.832;0.999;0.99;0.832	D	0.83650	0.0155	10	0.36615	T	0.2	-10.467	17.1888	0.86873	0.0:1.0:0.0:0.0	.	517;517;517;517	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	L	517	ENSP00000355045:P517L;ENSP00000354917:P517L;ENSP00000371668:P517L	ENSP00000354917:P517L	P	+	2	0	FAM179B	44502924	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.666000	0.68059	2.379000	0.81126	0.561000	0.74099	CCA	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.483	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1		0.00	57	0	C	XM_113781		45433174	+1			no_errors	ENST00000361577	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
FAM208B	54906	genome.wustl.edu	37	10	5803348	5803348	+	Missense_Mutation	SNP	G	G	T	rs543461908	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:5803348G>T	ENST00000328090.5	+	19	7713	c.7088G>T	c.(7087-7089)cGa>cTa	p.R2363L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2363								p.R2363Q(1)									TGTGACTCTCGATCATCAACA	0.388																																																	1	Substitution - Missense(1)	lung(1)											128.0	119.0	121.0					10																	5803348		1885	4117	6002	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7088G>T	10.37:g.5803348G>T	ENSP00000328426:p.Arg2363Leu		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.R2363L	ENST00000328090.5	37	c.7088	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762548	0.31228	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.42900	0.96	6.06	-4.42	0.03579	.	1.075400	0.07195	N	0.856424	T	0.24160	0.0585	L	0.41236	1.265	0.09310	N	1	P	0.35656	0.514	B	0.28553	0.091	T	0.17684	-1.0361	10	0.45353	T	0.12	.	2.4288	0.04466	0.3705:0.309:0.2214:0.0992	.	2363	Q5VWN6	F208B_HUMAN	L	2363;1558	ENSP00000328426:R2363L	ENSP00000328426:R2363L	R	+	2	0	C10orf18	5843354	0.000000	0.05858	0.002000	0.10522	0.299000	0.27559	-1.301000	0.02749	-0.631000	0.05560	0.650000	0.86243	CGA	FAM208B	-	NULL	ENSG00000108021		0.388	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2		0.00	44	0	G	NM_017782		5803348	+1			no_errors	ENST00000328090	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T
FAM20C	56975	genome.wustl.edu	37	7	299814	299814	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:299814G>A	ENST00000313766.5	+	10	1854	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P		NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	541	Kinase domain.				dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TGTACCAGCCGCACCTGGAGG	0.682																																																	0													10.0	18.0	16.0					7																	299814		686	1585	2271	SO:0001819	synonymous_variant	0			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.1623G>A	7.37:g.299814G>A			A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Silent	SNP	pfam_DUF1193	p.P541	ENST00000313766.5	37	c.1623	CCDS47522.1	7																																																																																			FAM20C	-	pfam_DUF1193	ENSG00000177706		0.682	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20C	HGNC	protein_coding	OTTHUMT00000322476.2	-	0.00	112	0	G	NM_020223		299814	+1	tier1	-	no_errors	ENST00000313766	ensembl	human	known	74_37	silent	25.33	112	38	SNP	0.029	A
FAM222B	55731	genome.wustl.edu	37	17	27086082	27086082	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:27086082T>C	ENST00000341217.5	-	3	1110	c.895A>G	c.(895-897)Agt>Ggt	p.S299G	FAM222B_ENST00000452648.3_Missense_Mutation_p.S299G|FAM222B_ENST00000581407.1_Missense_Mutation_p.S299G|FAM222B_ENST00000582266.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	299																	AGACTGCGACTAATGGGGCTG	0.587																																																	0													48.0	55.0	52.0					17																	27086082		2169	4266	6435	SO:0001583	missense	0			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.895A>G	17.37:g.27086082T>C	ENSP00000343115:p.Ser299Gly		Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	NULL	p.S299G	ENST00000341217.5	37	c.895	CCDS45637.1	17	.	.	.	.	.	.	.	.	.	.	T	15.58	2.874210	0.51695	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.35789	1.29;1.29	4.28	4.28	0.50868	.	0.042901	0.85682	D	0.000000	T	0.35508	0.0934	L	0.53249	1.67	0.58432	D	0.999994	B	0.19331	0.035	B	0.21546	0.035	T	0.29549	-1.0008	10	0.62326	D	0.03	-5.1866	13.034	0.58859	0.0:0.0:0.0:1.0	.	299	Q8WU58	CQ063_HUMAN	G	299	ENSP00000343115:S299G;ENSP00000413645:S299G	ENSP00000343115:S299G	S	-	1	0	C17orf63	24110209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.796000	0.69080	1.929000	0.55896	0.533000	0.62120	AGT	FAM222B	-	NULL	ENSG00000173065		0.587	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222B	HGNC	protein_coding	OTTHUMT00000446703.1		0.00	36	0	T	NM_018182		27086082	-1			no_errors	ENST00000341217	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	C
FAM229B	619208	genome.wustl.edu	37	6	112420502	112420502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:112420502G>T	ENST00000368656.2	+	3	313	c.16G>T	c.(16-18)Gga>Tga	p.G6*	FAM229B_ENST00000604268.1_Nonsense_Mutation_p.G6*	NM_001033564.1	NP_001028736.1	Q4G0N7	F229B_HUMAN	family with sequence similarity 229, member B	6								p.G6*(1)									TTTTCAATTTGGAACCCAGCC	0.423																																																	1	Substitution - Nonsense(1)	lung(1)											93.0	93.0	93.0					6																	112420502		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34513.1	6q21	2012-12-12	2012-12-12	2012-12-12	ENSG00000203778	ENSG00000203778			33858	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 225"""	C6orf225			Standard	NM_001033564		Approved	DKFZp586F0922, LOC619208	uc003pvs.3	Q4G0N7	OTTHUMG00000015383	ENST00000368656.2:c.16G>T	6.37:g.112420502G>T	ENSP00000357645:p.Gly6*		B8ZZ33	Nonsense_Mutation	SNP	NULL	p.G6*	ENST00000368656.2	37	c.16	CCDS34513.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.384647	0.95967	.	.	ENSG00000203778	ENST00000368656	.	.	.	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.4994	14.4465	0.67352	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000357645:G6X	G	+	1	0	C6orf225	112527195	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.126000	0.57937	2.869000	0.98440	0.558000	0.71614	GGA	FAM229B	-	NULL	ENSG00000203778		0.423	FAM229B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM229B	HGNC	protein_coding	OTTHUMT00000041870.2	-	0.00	85	0	G	NM_001033564		112420502	+1	tier1	-	no_errors	ENST00000368656	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	T
FAM230A	653203	genome.wustl.edu	37	22	20709156	20709156	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr22:20709156C>T	ENST00000434783.3	+	8	1072	c.888C>T	c.(886-888)gaC>gaT	p.D296D	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		CAAACGAGGACGCCGCCCAGG	0.667																																																	0																																										SO:0001819	synonymous_variant	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.888C>T	22.37:g.20709156C>T				Silent	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.D296	ENST00000434783.3	37	c.888		22																																																																																			FAM230A	-	superfamily_Kinase-like_dom	ENSG00000188280		0.667	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	81	0	C			20709156	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	silent	45.54	61	51	SNP	0.000	T
FAM230A	653203	genome.wustl.edu	37	22	20710812	20710812	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr22:20710812G>A	ENST00000434783.3	+	8	2728	c.2544G>A	c.(2542-2544)ccG>ccA	p.P848P	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		GGAGGACCCCGTCCAGGGCGT	0.672																																																	0																																										SO:0001819	synonymous_variant	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.2544G>A	22.37:g.20710812G>A				Silent	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.P848	ENST00000434783.3	37	c.2544		22																																																																																			FAM230A	-	NULL	ENSG00000188280		0.672	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	226	0	G			20710812	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	silent	24.06	202	64	SNP	0.029	A
FASN	2194	genome.wustl.edu	37	17	80048927	80048927	+	Missense_Mutation	SNP	C	C	T	rs41283367		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:80048927C>T	ENST00000306749.2	-	10	1729	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	504	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCCCATCCCGCGCCACTGTGT	0.647													.|||	1	0.000199681	0.0	0.0	5008	,	,		16714	0.0		0.001	False		,,,				2504	0.0				Colon(59;314 1043 11189 28578 32273)												0													78.0	72.0	74.0					17																	80048927		2200	4299	6499	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1511G>A	17.37:g.80048927C>T	ENSP00000304592:p.Arg504His		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.R504H	ENST00000306749.2	37	c.1511	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884257	0.51908	.	.	ENSG00000169710	ENST00000306749	T	0.46819	0.86	4.94	2.91	0.33838	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.599178	0.16973	N	0.192005	T	0.33933	0.0880	N	0.20807	0.61	0.19945	N	0.999942	P	0.52842	0.956	P	0.46419	0.516	T	0.08066	-1.0740	10	0.44086	T	0.13	-8.8146	6.9519	0.24550	0.0:0.5969:0.0:0.4031	rs41283367	504	P49327	FAS_HUMAN	H	504	ENSP00000304592:R504H	ENSP00000304592:R504H	R	-	2	0	FASN	77642216	0.002000	0.14202	0.021000	0.16686	0.940000	0.58332	0.029000	0.13666	1.083000	0.41159	0.484000	0.47621	CGC	FASN	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase	ENSG00000169710		0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0.00	55	0	C	NM_004104		80048927	-1	tier1	rs41283367	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.355	T
FASN	2194	genome.wustl.edu	37	17	80048947	80048947	+	Splice_Site	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:80048947T>C	ENST00000306749.2	-	10	1711		c.e10-2			NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase						acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TGCCCATCCCTGTCCCAGAGA	0.652																																					Colon(59;314 1043 11189 28578 32273)												0													66.0	62.0	64.0					17																	80048947		2201	4298	6499	SO:0001630	splice_region_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1493-2A>G	17.37:g.80048947T>C			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	-	e9-2	ENST00000306749.2	37	c.1493-2	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166964	0.38217	.	.	ENSG00000169710	ENST00000306749	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6543	0.62328	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FASN	77642236	1.000000	0.71417	0.995000	0.50966	0.252000	0.25951	5.786000	0.69006	1.833000	0.53350	0.352000	0.21897	.	FASN	-	-	ENSG00000169710		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0.00	58	0	T	NM_004104	Intron	80048947	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	splice_site	26.09	17	6	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150921908	150921908	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:150921908G>T	ENST00000261800.5	-	9	8792	c.8780C>A	c.(8779-8781)aCt>aAt	p.T2927N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2927	Cadherin 26. {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)			GGTCTTTAGAGTCGCCACCAG	0.502																																																	0													150.0	145.0	147.0					5																	150921908		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.8780C>A	5.37:g.150921908G>T	ENSP00000261800:p.Thr2927Asn		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.T2927N	ENST00000261800.5	37	c.8780	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682988	0.47991	.	.	ENSG00000086570	ENST00000261800	T	0.02944	4.1	6.05	5.18	0.71444	Cadherin (3);Cadherin-like (1);	0.088595	0.49305	D	0.000159	T	0.09818	0.0241	L	0.59967	1.855	0.42656	D	0.993463	D	0.76494	0.999	D	0.70487	0.969	T	0.39643	-0.9604	10	0.18710	T	0.47	.	11.2657	0.49110	0.1389:0.0:0.8611:0.0	.	2927	Q9NYQ8	FAT2_HUMAN	N	2927	ENSP00000261800:T2927N	ENSP00000261800:T2927N	T	-	2	0	FAT2	150902101	1.000000	0.71417	0.036000	0.18154	0.291000	0.27294	3.893000	0.56243	1.561000	0.49584	0.650000	0.86243	ACT	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000086570		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0.00	23	0	G	NM_001447		150921908	-1			no_errors	ENST00000261800	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.889	T
FAXDC2	10826	genome.wustl.edu	37	5	154210421	154210421	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:154210421G>T	ENST00000326080.5	-	5	729	c.306C>A	c.(304-306)gaC>gaA	p.D102E	FAXDC2_ENST00000517938.1_Missense_Mutation_p.D79E|FAXDC2_ENST00000520968.1_Intron|MIR378H_ENST00000579966.1_RNA|FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000518651.1_Missense_Mutation_p.D79E	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	102					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										TTCCTGTTGTGTCAACCACCA	0.473																																																	0													111.0	107.0	108.0					5																	154210421		1960	4157	6117	SO:0001583	missense	0			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.306C>A	5.37:g.154210421G>T	ENSP00000320604:p.Asp102Glu		B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.D102E	ENST00000326080.5	37	c.306	CCDS43390.1	5	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791276	0.50102	.	.	ENSG00000170271	ENST00000326080;ENST00000517938;ENST00000519501;ENST00000518651	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.97	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.90650	3.135	0.80722	D	1	D	0.56968	0.978	D	0.63703	0.917	T	0.71639	-0.4532	10	0.51188	T	0.08	.	8.4279	0.32739	0.301:0.0:0.699:0.0	.	102	Q96IV6	CE004_HUMAN	E	102;79;79;79	ENSP00000320604:D102E;ENSP00000430286:D79E;ENSP00000429837:D79E;ENSP00000429876:D79E	ENSP00000320604:D102E	D	-	3	2	C5orf4	154190614	1.000000	0.71417	0.169000	0.22859	0.193000	0.23685	3.011000	0.49567	0.517000	0.28361	-0.137000	0.14449	GAC	FAXDC2	-	NULL	ENSG00000170271		0.473	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXDC2	HGNC	protein_coding	OTTHUMT00000377429.1	-	0.00	44	0	G	NM_032385		154210421	-1	tier1	-	no_errors	ENST00000326080	ensembl	human	known	74_37	missense	8.00	45	4	SNP	0.992	T
FBN1	2200	genome.wustl.edu	37	15	48807662	48807662	+	Missense_Mutation	SNP	G	G	A	rs587782943		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:48807662G>A	ENST00000316623.5	-	12	1845	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	464	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGAATGCAGCGTCCATTTTGA	0.483																																																	0													103.0	91.0	95.0					15																	48807662		2197	4296	6493	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1390C>T	15.37:g.48807662G>A	ENSP00000325527:p.Arg464Cys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.R464C	ENST00000316623.5	37	c.1390	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929691	0.73327	.	.	ENSG00000166147	ENST00000316623	D	0.87729	-2.29	5.93	5.93	0.95920	Epidermal growth factor-like (1);	0.105158	0.64402	D	0.000004	D	0.92280	0.7551	H	0.95917	3.74	0.80722	D	1	D	0.60575	0.988	B	0.42386	0.386	D	0.94262	0.7503	10	0.66056	D	0.02	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	464	P35555	FBN1_HUMAN	C	464	ENSP00000325527:R464C	ENSP00000325527:R464C	R	-	1	0	FBN1	46594954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.681000	0.61663	2.826000	0.97356	0.655000	0.94253	CGC	FBN1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN	ENSG00000166147		0.483	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0.00	37	0	G			48807662	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	58.06	13	18	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127595297	127595297	+	Silent	SNP	G	G	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:127595297G>C	ENST00000508053.1	-	71	9563	c.8589C>G	c.(8587-8589)ctC>ctG	p.L2863L	FBN2_ENST00000262464.4_Silent_p.L2863L			P35556	FBN2_HUMAN	fibrillin 2	2863					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCCGGGCATGAGCTTCTTCT	0.498																																																	0													236.0	209.0	218.0					5																	127595297		2203	4300	6503	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8589C>G	5.37:g.127595297G>C			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L2863	ENST00000508053.1	37	c.8589	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN,superfamily_Cadherin-like	ENSG00000138829		0.498	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0.00	70	0	G	NM_001999		127595297	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	20.69	46	12	SNP	0.000	C
FBXO47	494188	genome.wustl.edu	37	17	37107882	37107882	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:37107882G>A	ENST00000378079.2	-	6	767	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	190										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGATTAGTCAGTTCGCATAAG	0.343																																																	0													82.0	77.0	79.0					17																	37107882		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.568C>T	17.37:g.37107882G>A			B2RTZ4	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.L190	ENST00000378079.2	37	c.568	CCDS32639.1	17																																																																																			FBXO47	-	NULL	ENSG00000204952		0.343	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO47	HGNC	protein_coding	OTTHUMT00000444073.1		0.00	49	0	G	NM_001008777		37107882	-1			no_errors	ENST00000378079	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.977	A
FEZF1	389549	genome.wustl.edu	37	7	121942249	121942249	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:121942249G>T	ENST00000442488.2	-	4	1297	c.1230C>A	c.(1228-1230)tgC>tgA	p.C410*	FEZF1_ENST00000331178.4_Nonsense_Mutation_p.C406*|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Nonsense_Mutation_p.C360*	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	410					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CAAAGTTCCTGCAGAAACCCT	0.607																																																	0													162.0	137.0	146.0					7																	121942249		2203	4300	6503	SO:0001587	stop_gained	0			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1230C>A	7.37:g.121942249G>T	ENSP00000411145:p.Cys410*		A0PJY3|A4D0W3|B4DUP9|B7ZM98	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C410*	ENST00000442488.2	37	c.1230	CCDS34741.2	7	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890161	0.91889	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	.	.	.	5.4	3.43	0.39272	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.5004	9.2491	0.37545	0.2484:0.0:0.7516:0.0	.	.	.	.	X	410;406;360	.	ENSP00000332777:C406X	C	-	3	2	FEZF1	121729485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.318000	0.51975	1.488000	0.48433	0.561000	0.74099	TGC	FEZF1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128610		0.607	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	HGNC	protein_coding	OTTHUMT00000347410.1	-	0.00	85	0	G	NM_001024613		121942249	-1	tier1	-	no_errors	ENST00000442488	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	1.000	T
FGA	2243	genome.wustl.edu	37	4	155507473	155507473	+	Missense_Mutation	SNP	C	C	A	rs530693284		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:155507473C>A	ENST00000302053.3	-	5	1186	c.1108G>T	c.(1108-1110)Gct>Tct	p.A370S	FGA_ENST00000403106.3_Missense_Mutation_p.A370S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	370					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGTGCCCAGCACTTCCGCGT	0.552																																					NSCLC(143;340 1922 20892 22370 48145)												0													65.0	69.0	67.0					4																	155507473		2203	4299	6502	SO:0001583	missense	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1108G>T	4.37:g.155507473C>A	ENSP00000306361:p.Ala370Ser		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.A370S	ENST00000302053.3	37	c.1108	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	3.274	-0.148468	0.06627	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.82255	-1.59;-1.59	4.43	-8.86	0.00795	.	9.923110	0.00166	N	0.000003	T	0.63260	0.2496	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.58160	-0.7685	10	0.16896	T	0.51	.	0.2148	0.00160	0.3282:0.1757:0.1635:0.3326	.	370;370	P02671-2;P02671	.;FIBA_HUMAN	S	370	ENSP00000306361:A370S;ENSP00000385981:A370S	ENSP00000306361:A370S	A	-	1	0	FGA	155726923	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.228000	0.02948	-2.855000	0.00329	-0.300000	0.09419	GCT	FGA	-	NULL	ENSG00000171560		0.552	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	-	0.00	54	0	C	NM_000508		155507473	-1	tier1	-	no_errors	ENST00000302053	ensembl	human	known	74_37	missense	40.00	30	20	SNP	0.000	A
FILIP1	27145	genome.wustl.edu	37	6	76018615	76018615	+	Splice_Site	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:76018615T>A	ENST00000237172.7	-	6	3766		c.e6-2		FILIP1_ENST00000393004.2_Splice_Site|FILIP1_ENST00000370020.1_Splice_Site|FILIP1_ENST00000498523.1_Splice_Site	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1											breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGTCCTGACTGTAAGAGAGA	0.498																																																	0													76.0	72.0	73.0					6																	76018615		2203	4300	6503	SO:0001630	splice_region_variant	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3436-2A>T	6.37:g.76018615T>A			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Splice_Site	SNP	-	e5-2	ENST00000237172.7	37	c.3436-2	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162561	0.78226	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3378	0.83071	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FILIP1	76075335	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.198000	0.77823	2.255000	0.74692	0.533000	0.62120	.	FILIP1	-	-	ENSG00000118407		0.498	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1		0.00	74	0	T	XM_029179	Intron	76018615	-1			no_errors	ENST00000237172	ensembl	human	known	74_37	splice_site	11.32	47	6	SNP	1.000	A
FLJ12825	440101	genome.wustl.edu	37	12	54515385	54515385	+	lincRNA	SNP	T	T	G	rs200386900		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:54515385T>G	ENST00000515617.1	+	0	3309				RP11-834C11.5_ENST00000508763.1_RNA	NR_026655.1																						tctaccctcgtgcagcaagga	0.532																																																	0																																												0																															12.37:g.54515385T>G				RNA	SNP	-	NULL	ENST00000515617.1	37	NULL		12																																																																																			RP11-834C11.3	-	-	ENSG00000248265		0.532	RP11-834C11.3-001	KNOWN	basic	lincRNA	FLJ12825	Clone_based_vega_gene	lincRNA	OTTHUMT00000358961.1		0.00	24	0	T			54515385	+1			no_errors	ENST00000515617	ensembl	human	known	74_37	rna	11.76	30	4	SNP	0.000	G
FMN2	56776	genome.wustl.edu	37	1	240371436	240371436	+	Silent	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:240371436T>C	ENST00000319653.9	+	5	3554	c.3324T>C	c.(3322-3324)ccT>ccC	p.P1108P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1108	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1251P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGGCATACCTCCTCCGCCCC	0.731																																																	1	Substitution - coding silent(1)	lung(1)											8.0	11.0	10.0					1																	240371436		2057	4147	6204	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3324T>C	1.37:g.240371436T>C			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1108	ENST00000319653.9	37	c.3324	CCDS31069.2	1																																																																																			FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin	ENSG00000155816		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	62	0	T	XM_371352		240371436	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	8.26	100	9	SNP	0.075	C
FOLH1	2346	genome.wustl.edu	37	11	49175865	49175865	+	Silent	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:49175865A>T	ENST00000256999.2	-	16	2063	c.1803T>A	c.(1801-1803)gcT>gcA	p.A601A	FOLH1_ENST00000533034.1_Silent_p.A586A|FOLH1_ENST00000340334.7_Silent_p.A586A|FOLH1_ENST00000356696.3_Silent_p.A601A|FOLH1_ENST00000343844.4_Silent_p.A293A	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	601					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TTAAAACTACAGCATAATCTC	0.398																																																	0													122.0	105.0	110.0					11																	49175865		2201	4297	6498	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1803T>A	11.37:g.49175865A>T			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.A601	ENST00000256999.2	37	c.1803	CCDS7946.1	11																																																																																			FOLH1	-	superfamily_TFR-like_dimer_dom	ENSG00000086205		0.398	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0.00	44	0	A	NM_004476		49175865	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	41.18	30	21	SNP	0.838	T
FOXG1	2290	genome.wustl.edu	37	14	29237630	29237630	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:29237630C>T	ENST00000313071.4	+	1	1344	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	FOXG1_ENST00000382535.3_Missense_Mutation_p.A382V	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	382					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CTCACGGCCGCCGCGCTAGCC	0.697																																																	0													41.0	36.0	37.0					14																	29237630		2202	4297	6499	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1145C>T	14.37:g.29237630C>T	ENSP00000339004:p.Ala382Val		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A382V	ENST00000313071.4	37	c.1145	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462880	0.63513	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94046	-3.34;-3.34	4.21	4.21	0.49690	.	0.132985	0.49305	U	0.000146	D	0.90400	0.6995	N	0.19112	0.55	0.58432	D	0.999999	D	0.58268	0.982	P	0.48738	0.588	D	0.91922	0.5548	10	0.56958	D	0.05	.	16.9273	0.86180	0.0:1.0:0.0:0.0	.	382	P55316	FOXG1_HUMAN	V	382	ENSP00000371975:A382V;ENSP00000339004:A382V	ENSP00000339004:A382V	A	+	2	0	FOXG1	28307381	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.933000	0.70130	2.042000	0.60477	0.491000	0.48974	GCC	FOXG1	-	NULL	ENSG00000176165		0.697	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0.00	29	0	C			29237630	+1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	T
FRAS1	80144	genome.wustl.edu	37	4	79458239	79458239	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:79458239C>T	ENST00000264895.6	+	72	11623	c.11183C>T	c.(11182-11184)aCg>aTg	p.T3728M		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3724					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TATCTTTGTACGGGCAAGGAT	0.428																																																	0													135.0	131.0	132.0					4																	79458239		1834	4095	5929	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11183C>T	4.37:g.79458239C>T	ENSP00000264895:p.Thr3728Met		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.T3728M	ENST00000264895.6	37	c.11183	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975762	0.92982	.	.	ENSG00000138759	ENST00000264895	T	0.69685	-0.42	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84836	0.0805	10	0.87932	D	0	.	20.33	0.98713	0.0:1.0:0.0:0.0	.	3728	E9PHH6	.	M	3728	ENSP00000264895:T3728M	ENSP00000264895:T3728M	T	+	2	0	FRAS1	79677263	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	7.680000	0.84062	2.810000	0.96702	0.585000	0.79938	ACG	FRAS1	-	NULL	ENSG00000138759		0.428	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding			0.00	60	0	C			79458239	+1			no_errors	ENST00000264895	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
FRG2B	441581	genome.wustl.edu	37	10	135438978	135438978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:135438978delC	ENST00000425520.1	-	4	514	c.462delG	c.(460-462)gggfs	p.G154fs	FRG2B_ENST00000443774.1_Frame_Shift_Del_p.G155fs	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	154						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCTTGCTGCGCCCAGTGCAAG	0.522																																																	0													123.0	140.0	134.0					10																	135438978		2199	4299	6498	SO:0001589	frameshift_variant	0			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.462delG	10.37:g.135438978delC	ENSP00000401310:p.Gly154fs		Q5VSQ1	Frame_Shift_Del	DEL	NULL	p.R155fs	ENST00000425520.1	37	c.462	CCDS44502.1	10																																																																																			FRG2B	-	NULL	ENSG00000225899		0.522	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	HGNC	protein_coding	OTTHUMT00000467780.1		0.00	152	0	C	NM_001080998		135438978	-1			no_errors	ENST00000425520	ensembl	human	known	74_37	frame_shift_del	7.41	100	8	DEL	0.034	0
FRY	10129	genome.wustl.edu	37	13	32709287	32709287	+	Silent	SNP	G	G	A	rs201444881		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:32709287G>A	ENST00000380250.3	+	10	1540	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	348						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGACACCACGCTGGAACTTT	0.348																																																	0													59.0	54.0	55.0					13																	32709287		1828	4083	5911	SO:0001819	synonymous_variant	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1044G>A	13.37:g.32709287G>A			Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.T348	ENST00000380250.3	37	c.1044	CCDS41875.1	13																																																																																			FRY	-	NULL	ENSG00000073910		0.348	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0.00	77	0	G	NM_023037		32709287	+1	tier1	rs201444881	no_errors	ENST00000380250	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.086	A
FUBP3	8939	genome.wustl.edu	37	9	133470944	133470944	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:133470944C>T	ENST00000319725.9	+	2	234	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	53					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TATATGGATACGGAGTACAAA	0.408																																																	0													171.0	157.0	161.0					9																	133470944		1858	4096	5954	SO:0001819	synonymous_variant	0			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.159C>T	9.37:g.133470944C>T			A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.Y53	ENST00000319725.9	37	c.159	CCDS43893.1	9																																																																																			FUBP3	-	NULL	ENSG00000107164		0.408	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	-	0.00	32	0	C			133470944	+1	tier1	-	no_errors	ENST00000319725	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.947	T
GALNT8	26290	genome.wustl.edu	37	12	4874626	4874626	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:4874626G>T	ENST00000252318.2	+	10	2012	c.1675G>T	c.(1675-1677)Gac>Tac	p.D559Y		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	559	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTGCCTGACAGACCCTGGCAA	0.443																																					Colon(108;631 1558 7270 20097 39846)												0													113.0	108.0	109.0					12																	4874626		2203	4300	6503	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1675G>T	12.37:g.4874626G>T	ENSP00000252318:p.Asp559Tyr		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.D559Y	ENST00000252318.2	37	c.1675	CCDS8533.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.75|13.75	2.329884|2.329884	0.41297|0.41297	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000252318|ENST00000542998;ENST00000535354	T|.	0.26067|.	1.76|.	4.04|4.04	3.14|3.14	0.36123|0.36123	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69287|0.69287	0.3094|0.3094	M|M	0.84082|0.84082	2.675|2.675	0.34975|0.34975	D|D	0.753494|0.753494	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.76929|0.76929	-0.2777|-0.2777	10|5	0.48119|.	T|.	0.1|.	.|.	9.7025|9.7025	0.40196|0.40196	0.0:0.2107:0.7893:0.0|0.0:0.2107:0.7893:0.0	.|.	559|.	Q9NY28|.	GALT8_HUMAN|.	Y|H	559|75;54	ENSP00000252318:D559Y|.	ENSP00000252318:D559Y|.	D|Q	+|+	1|3	0|2	GALNT8|GALNT8	4744887|4744887	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.307000|0.307000	0.27823|0.27823	4.806000|4.806000	0.62569|0.62569	0.896000|0.896000	0.36366|0.36366	0.655000|0.655000	0.94253|0.94253	GAC|CAG	GALNT8	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000130035		0.443	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0.00	82	0	G	NM_017417		4874626	+1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	T
GBE1	2632	genome.wustl.edu	37	3	81586214	81586214	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:81586214A>C	ENST00000429644.2	-	13	2294	c.1651T>G	c.(1651-1653)Ttc>Gtc	p.F551V	GBE1_ENST00000489715.1_Missense_Mutation_p.F510V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	551					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TTTCTTGGGAAGTCTAACCAT	0.338									Glycogen Storage Disease, type IV																																								0													64.0	63.0	63.0					3																	81586214		1847	4104	5951	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1651T>G	3.37:g.81586214A>C	ENSP00000410833:p.Phe551Val		B3KWV3|Q96EN0	Missense_Mutation	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.F551V	ENST00000429644.2	37	c.1651	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247777	0.80024	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.93247	-3.19;-3.19	5.3	5.3	0.74995	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	H	0.99074	4.42	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99777	1.1026	10	0.87932	D	0	-21.3026	15.5267	0.75915	1.0:0.0:0.0:0.0	.	510;551	E9PGM4;Q04446	.;GLGB_HUMAN	V	551;602;510;314	ENSP00000410833:F551V;ENSP00000419638:F510V	ENSP00000264326:F602V	F	-	1	0	GBE1	81668904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.132000	0.65825	0.528000	0.53228	TTC	GBE1	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000114480		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	-	0.00	39	0	A			81586214	-1	tier1	-	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	60.61	13	20	SNP	1.000	C
GBP1	2633	genome.wustl.edu	37	1	89520418	89520418	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:89520418C>T	ENST00000370473.4	-	10	1831	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	538					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGGACCCTGTCGTTCTCCATC	0.428																																																	0													295.0	295.0	295.0					1																	89520418		2203	4300	6503	SO:0001583	missense	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1612G>A	1.37:g.89520418C>T	ENSP00000359504:p.Asp538Asn		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.D538N	ENST00000370473.4	37	c.1612	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252067	0.59212	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.02103	4.45	4.67	4.67	0.58626	Guanylate-binding protein, C-terminal (3);	0.262703	0.35615	N	0.003091	T	0.01627	0.0052	M	0.63428	1.95	0.27099	N	0.96266	B	0.14438	0.01	B	0.11329	0.006	T	0.27872	-1.0061	10	0.56958	D	0.05	.	15.0529	0.71888	0.0:1.0:0.0:0.0	.	538	P32455	GBP1_HUMAN	N	538;501	ENSP00000359504:D538N	ENSP00000359504:D538N	D	-	1	0	GBP1	89293006	0.460000	0.25776	0.021000	0.16686	0.350000	0.29205	1.210000	0.32370	2.151000	0.67156	0.491000	0.48974	GAC	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000117228		0.428	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3		0.00	84	0	C	NM_002053		89520418	-1			no_errors	ENST00000370473	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.536	T
GLRA2	2742	genome.wustl.edu	37	X	14599304	14599304	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:14599304G>T	ENST00000218075.4	+	4	800		c.e4-1		GLRA2_ENST00000355020.4_Splice_Site|GLRA2_ENST00000443437.2_Splice_Site	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	CATTTCTGTAGGACTACCGAG	0.468																																																	0													90.0	82.0	85.0					X																	14599304		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.271-1G>T	X.37:g.14599304G>T			A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Splice_Site	SNP	-	e4-1	ENST00000218075.4	37	c.271-1	CCDS14160.1	X	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639978	0.87760	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8728	0.92322	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRA2	14509225	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.715000	0.98748	2.404000	0.81709	0.600000	0.82982	.	GLRA2	-	-	ENSG00000101958		0.468	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA2	HGNC	protein_coding	OTTHUMT00000055829.1		0.00	29	0	G		Intron	14599304	+1			no_errors	ENST00000218075	ensembl	human	known	74_37	splice_site	10.00	35	4	SNP	1.000	T
GMDS	2762	genome.wustl.edu	37	6	1960205	1960205	+	Splice_Site	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:1960205C>A	ENST00000380815.4	-	6	808	c.539G>T	c.(538-540)gGg>gTg	p.G180V	GMDS_ENST00000530927.1_Splice_Site_p.G150V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	180					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TTTTGCTGCCCCTGTTGGAAT	0.388																																																	0													58.0	56.0	57.0					6																	1960205		2203	4300	6503	SO:0001630	splice_region_variant	0			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.539-1G>T	6.37:g.1960205C>A			E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.G180V	ENST00000380815.4	37	c.539	CCDS4474.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598141	0.87055	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.94138	-3.36;-3.36	5.55	5.55	0.83447	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97993	0.9339	H	0.96691	3.865	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	D	0.98722	1.0709	10	0.87932	D	0	.	19.8686	0.96842	0.0:1.0:0.0:0.0	.	180	O60547	GMDS_HUMAN	V	150;180	ENSP00000436726:G150V;ENSP00000370194:G180V	ENSP00000370194:G180V	G	-	2	0	GMDS	1905204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.350000	0.79385	2.768000	0.95171	0.655000	0.94253	GGG	GMDS	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	ENSG00000112699		0.388	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	HGNC	protein_coding	OTTHUMT00000043380.3	-	0.00	43	0	C		Missense_Mutation	1960205	-1	tier1	-	no_errors	ENST00000380815	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	A
GNE	10020	genome.wustl.edu	37	9	36246411	36246411	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:36246411C>T	ENST00000539815.1	-	2	273	c.233G>A	c.(232-234)gGa>gAa	p.G78E	GNE_ENST00000396594.3_Missense_Mutation_p.G109E|GNE_ENST00000447283.2_Missense_Mutation_p.G78E|GNE_ENST00000377902.5_Missense_Mutation_p.G78E|GNE_ENST00000543356.2_Missense_Mutation_p.G73E|GNE_ENST00000539208.1_Missense_Mutation_p.G19E			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	78					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTCATCTTCTCCCCTCACAAT	0.443																																					GBM(184;106 2118 20004 35750 50727)												0													70.0	67.0	68.0					9																	36246411		2203	4300	6503	SO:0001583	missense	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.233G>A	9.37:g.36246411C>T	ENSP00000439155:p.Gly78Glu		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.G109E	ENST00000539815.1	37	c.326	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	C	16.01	2.999936	0.54147	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	M	0.64676	1.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;1.0	D	0.99802	1.1036	10	0.52906	T	0.07	-27.6147	16.8608	0.86018	0.0:1.0:0.0:0.0	.	19;37;109;78;78	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	E	78;109;73;78;50;19;78	ENSP00000367134:G78E;ENSP00000379839:G109E;ENSP00000439155:G78E;ENSP00000445117:G19E;ENSP00000414760:G78E	ENSP00000340770:G73E	G	-	2	0	GNE	36236411	1.000000	0.71417	0.993000	0.49108	0.023000	0.10783	7.143000	0.77348	2.563000	0.86464	0.591000	0.81541	GGA	GNE	-	pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase	ENSG00000159921		0.443	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	-	0.00	32	0	C	NM_005476		36246411	-1	tier1	-	no_errors	ENST00000396594	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	T
GPR12	2835	genome.wustl.edu	37	13	27333439	27333439	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:27333439C>T	ENST00000381436.2	-	1	988	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	GPR12_ENST00000405846.3_Missense_Mutation_p.V176I			P47775	GPR12_HUMAN	G protein-coupled receptor 12	176					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAGCCCATGACGGGCAGCAGC	0.597																																																	0													51.0	47.0	48.0					13																	27333439		2203	4300	6503	SO:0001583	missense	0			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.526G>A	13.37:g.27333439C>T	ENSP00000370844:p.Val176Ile		Q5T8P3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn	p.V176I	ENST00000381436.2	37	c.526	CCDS9319.1	13	.	.	.	.	.	.	.	.	.	.	C	3.117	-0.181320	0.06380	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36520	1.25;1.25	5.36	0.721	0.18219	GPCR, rhodopsin-like superfamily (1);	0.236354	0.42964	N	0.000627	T	0.16342	0.0393	N	0.11892	0.195	0.21841	N	0.999511	B	0.19073	0.033	B	0.19946	0.027	T	0.32134	-0.9918	10	0.07813	T	0.8	.	9.6996	0.40178	0.0:0.4994:0.0:0.5006	.	176	P47775	GPR12_HUMAN	I	176	ENSP00000384932:V176I;ENSP00000370844:V176I	ENSP00000370844:V176I	V	-	1	0	GPR12	26231439	0.001000	0.12720	0.292000	0.24919	0.946000	0.59487	0.002000	0.13061	-0.184000	0.10567	-0.224000	0.12420	GTC	GPR12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000132975		0.597	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	-	0.00	19	0	C			27333439	-1	tier1	-	no_errors	ENST00000381436	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.059	T
GPR133	283383	genome.wustl.edu	37	12	131569156	131569156	+	Missense_Mutation	SNP	G	G	C	rs145630930		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:131569156G>C	ENST00000261654.5	+	15	2178	c.1619G>C	c.(1618-1620)cGc>cCc	p.R540P	GPR133_ENST00000543617.1_Missense_Mutation_p.R59P|GPR133_ENST00000535015.1_Missense_Mutation_p.R572P|GPR133_ENST00000376682.4_Missense_Mutation_p.R226P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	540	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R540H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCGTCTGCCGCTGCACTCAC	0.617																																																	1	Substitution - Missense(1)	lung(1)											144.0	97.0	113.0					12																	131569156		2203	4300	6503	SO:0001583	missense	0			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1619G>C	12.37:g.131569156G>C	ENSP00000261654:p.Arg540Pro		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R540P	ENST00000261654.5	37	c.1619	CCDS9272.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.691848|2.691848	0.48097|0.48097	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000335486|ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	.|T;T;T;T	.|0.69685	.|-0.42;-0.42;-0.42;-0.42	4.99|4.99	-6.06|-6.06	0.02165|0.02165	.|GPS domain (3);	.|1.020760	.|0.07793	.|N	.|0.955259	T|T	0.71517|0.71517	0.3349|0.3349	M|M	0.85099|0.85099	2.735|2.735	0.20821|0.20821	N|N	0.999848|0.999848	.|B;P;P	.|0.39520	.|0.354;0.676;0.55	.|B;P;B	.|0.44561	.|0.395;0.453;0.403	T|T	0.68911|0.68911	-0.5284|-0.5284	5|10	.|0.38643	.|T	.|0.18	.|.	14.0182|14.0182	0.64536|0.64536	0.7278:0.0:0.2722:0.0|0.7278:0.0:0.2722:0.0	.|.	.|572;59;540	.|B7ZLF7;Q6QNK2-3;Q6QNK2	.|.;.;GP133_HUMAN	P|P	62|540;572;226;59	.|ENSP00000261654:R540P;ENSP00000444425:R572P;ENSP00000365872:R226P;ENSP00000438021:R59P	.|ENSP00000261654:R540P	A|R	+|+	1|2	0|0	GPR133|GPR133	130135109|130135109	0.987000|0.987000	0.35691|0.35691	0.921000|0.921000	0.36526|0.36526	0.674000|0.674000	0.39518|0.39518	0.159000|0.159000	0.16442|0.16442	-1.058000|-1.058000	0.03197|0.03197	-0.196000|-0.196000	0.12772|0.12772	GCT|CGC	GPR133	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000111452		0.617	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1		0.00	53	0	G	NM_198827		131569156	+1			no_errors	ENST00000261654	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.853	C
GPR15	2838	genome.wustl.edu	37	3	98251394	98251394	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:98251394G>A	ENST00000284311.3	+	1	652	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	173					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TCTGTCCAGGGAGCTCACGCT	0.463																																																	0													119.0	102.0	108.0					3																	98251394		2203	4300	6503	SO:0001583	missense	0				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.517G>A	3.37:g.98251394G>A	ENSP00000284311:p.Glu173Lys		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.E173K	ENST00000284311.3	37	c.517	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	G	9.131	1.011396	0.19277	.	.	ENSG00000154165	ENST00000284311	T	0.71579	-0.58	4.65	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.120621	0.35936	N	0.002882	T	0.53029	0.1771	L	0.33189	0.99	0.09310	N	1	B	0.19445	0.036	B	0.24006	0.05	T	0.21314	-1.0249	10	0.16420	T	0.52	-12.4778	6.074	0.19905	0.1012:0.1915:0.7073:0.0	.	173	P49685	GPR15_HUMAN	K	173	ENSP00000284311:E173K	ENSP00000284311:E173K	E	+	1	0	GPR15	99734084	0.985000	0.35326	1.000000	0.80357	0.887000	0.51463	1.744000	0.38268	2.579000	0.87056	0.591000	0.81541	GAG	GPR15	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt	ENSG00000154165		0.463	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1	-	0.00	39	0	G			98251394	+1	tier1	-	no_errors	ENST00000284311	ensembl	human	known	74_37	missense	27.59	20	8	SNP	0.052	A
GPR4	2828	genome.wustl.edu	37	19	46095041	46095041	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:46095041G>A	ENST00000323040.4	-	2	1028	c.84C>T	c.(82-84)atC>atT	p.I28I	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	28					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I28I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCCCCACGCCGATGACAAAGA	0.642																																					Esophageal Squamous(117;181 1612 1673 14956 42937)												1	Substitution - coding silent(1)	prostate(1)											55.0	45.0	48.0					19																	46095041		2203	4300	6503	SO:0001819	synonymous_variant	0			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.84C>T	19.37:g.46095041G>A			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt	p.I28	ENST00000323040.4	37	c.84	CCDS12669.1	19																																																																																			GPR4	-	prints_GPCR_Rhodpsn	ENSG00000177464		0.642	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR4	HGNC	protein_coding	OTTHUMT00000459603.1	-	0.00	43	0	G	NM_005282		46095041	-1	tier1	-	no_errors	ENST00000323040	ensembl	human	known	74_37	silent	21.88	50	14	SNP	1.000	A
GPRIN1	114787	genome.wustl.edu	37	5	176024095	176024095	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:176024095C>A	ENST00000303991.4	-	2	2918	c.2741G>T	c.(2740-2742)aGc>aTc	p.S914I		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	914	Interaction with GNAO1. {ECO:0000250}.				neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGTCCCAGCTCACGTCTCG	0.716																																																	0													37.0	40.0	39.0					5																	176024095		1797	3432	5229	SO:0001583	missense	0			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.2741G>T	5.37:g.176024095C>A	ENSP00000305839:p.Ser914Ile		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	NULL	p.S914I	ENST00000303991.4	37	c.2741	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024676	0.75390	.	.	ENSG00000169258	ENST00000303991	T	0.25579	1.79	3.9	0.564	0.17302	.	.	.	.	.	T	0.15869	0.0382	L	0.28115	0.83	0.32955	D	0.52024	P	0.40731	0.728	B	0.37451	0.25	T	0.22871	-1.0204	9	0.48119	T	0.1	-0.2281	8.4791	0.33032	0.3089:0.5413:0.1498:0.0	.	914	Q7Z2K8	GRIN1_HUMAN	I	914	ENSP00000305839:S914I	ENSP00000305839:S914I	S	-	2	0	GPRIN1	175956701	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	2.717000	0.47227	0.093000	0.17368	0.313000	0.20887	AGC	GPRIN1	-	NULL	ENSG00000169258		0.716	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1		0.00	15	0	C	NM_052899		176024095	-1			no_errors	ENST00000303991	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	A
GRIN1	2902	genome.wustl.edu	37	9	140056471	140056471	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:140056471C>T	ENST00000371561.3	+	11	2660	c.1563C>T	c.(1561-1563)aaC>aaT	p.N521N	GRIN1_ENST00000371560.3_Silent_p.N542N|GRIN1_ENST00000371559.4_Silent_p.N521N|GRIN1_ENST00000371550.4_Silent_p.N521N|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.N521N|GRIN1_ENST00000371553.3_Silent_p.N542N|GRIN1_ENST00000371546.4_Silent_p.N542N|GRIN1_ENST00000315048.3_Silent_p.N521N|GRIN1_ENST00000371555.4_Silent_p.N542N	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	521					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCATAAACAACGAGCGCGCGC	0.602																																					NSCLC(113;717 1653 2089 20474 37618)												0													41.0	33.0	35.0					9																	140056471		2173	4267	6440	SO:0001819	synonymous_variant	0				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1563C>T	9.37:g.140056471C>T			A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N521	ENST00000371561.3	37	c.1563	CCDS7031.1	9																																																																																			GRIN1	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000176884		0.602	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	-	0.00	98	0	C	NM_007327		140056471	+1	tier1	-	no_errors	ENST00000371561	ensembl	human	known	74_37	silent	49.02	52	50	SNP	0.987	T
GRM3	2913	genome.wustl.edu	37	7	86415724	86415724	+	Missense_Mutation	SNP	C	C	T	rs372311811		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:86415724C>T	ENST00000361669.2	+	3	1715	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R204C|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R78C|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R206C	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	206					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R206C(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGAGATCTTGCGCTTCTTCAA	0.577																																					GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG	0,4406		0,0,2203	98.0	86.0	90.0		616	5.7	1.0	7		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRM3	NM_000840.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	206/880	86415724	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.616C>T	7.37:g.86415724C>T	ENSP00000355316:p.Arg206Cys		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.R206C	ENST00000361669.2	37	c.616	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925517	0.73213	0.0	1.16E-4	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;P;D	0.66716	0.911;0.9;0.946	D	0.93000	0.6422	10	0.87932	D	0	.	13.7862	0.63110	0.1531:0.8468:0.0:0.0	.	78;206;206	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	C	206;78;78;206;204	ENSP00000355316:R206C;ENSP00000405427:R78C;ENSP00000441407:R78C;ENSP00000398767:R206C;ENSP00000378209:R204C	ENSP00000355316:R206C	R	+	1	0	GRM3	86253660	0.997000	0.39634	1.000000	0.80357	0.952000	0.60782	1.870000	0.39529	2.711000	0.92665	0.655000	0.94253	CGC	GRM3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000198822		0.577	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	-	0.00	53	0	C			86415724	+1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	31.48	37	17	SNP	1.000	T
GRN	2896	genome.wustl.edu	37	17	42426907	42426907	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:42426907C>T	ENST00000053867.3	+	3	314	c.252C>T	c.(250-252)tgC>tgT	p.C84C	GRN_ENST00000589265.1_Silent_p.C84C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	84					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCAGTTGCTGCCCCTTCCCAG	0.592																																																	0													89.0	96.0	93.0					17																	42426907		2203	4300	6503	SO:0001819	synonymous_variant	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.252C>T	17.37:g.42426907C>T			D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	pfam_Granulin,smart_Granulin	p.C84	ENST00000053867.3	37	c.252	CCDS11483.1	17																																																																																			GRN	-	pfam_Granulin,smart_Granulin	ENSG00000030582		0.592	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	-	0.00	28	0	C	NM_002087		42426907	+1	tier1	-	no_errors	ENST00000053867	ensembl	human	known	74_37	silent	27.27	8	3	SNP	1.000	T
GTF3C3	9330	genome.wustl.edu	37	2	197645322	197645322	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:197645322C>T	ENST00000263956.3	-	9	1268	c.1179G>A	c.(1177-1179)atG>atA	p.M393I	GTF3C3_ENST00000409364.3_Missense_Mutation_p.M393I	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	393					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAAGGCAGACCATCAACTTCA	0.398																																																	0													174.0	146.0	156.0					2																	197645322		2203	4300	6503	SO:0001583	missense	0			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1179G>A	2.37:g.197645322C>T	ENSP00000263956:p.Met393Ile		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M393I	ENST00000263956.3	37	c.1179	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433772	0.25813	.	.	ENSG00000119041	ENST00000263956;ENST00000448087;ENST00000409364	T;T	0.40476	1.05;1.03	5.41	5.41	0.78517	Tetratricopeptide-like helical (1);	0.093048	0.64402	D	0.000001	T	0.30792	0.0776	N	0.12182	0.205	0.46149	D	0.998899	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.001	T	0.07158	-1.0787	10	0.51188	T	0.08	-23.8624	19.3887	0.94570	0.0:1.0:0.0:0.0	.	393;393	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	I	393;78;393	ENSP00000263956:M393I;ENSP00000386465:M393I	ENSP00000263956:M393I	M	-	3	0	GTF3C3	197353567	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.033000	0.49743	2.826000	0.97356	0.655000	0.94253	ATG	GTF3C3	-	NULL	ENSG00000119041		0.398	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	-	0.00	45	0	C			197645322	-1	tier1	-	no_errors	ENST00000263956	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	T
HDX	139324	genome.wustl.edu	37	X	83599352	83599352	+	Silent	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:83599352T>A	ENST00000297977.5	-	6	1677	c.1566A>T	c.(1564-1566)gcA>gcT	p.A522A	HDX_ENST00000373177.2_Silent_p.A522A|HDX_ENST00000506585.2_Silent_p.A464A	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	522						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGTGTGAGTGCAGATAAAG	0.463																																					Pancreas(53;231 1169 36156 43751 51139)												0													97.0	89.0	92.0					X																	83599352		2203	4300	6503	SO:0001819	synonymous_variant	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1566A>T	X.37:g.83599352T>A			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A522	ENST00000297977.5	37	c.1566	CCDS35342.1	X																																																																																			HDX	-	NULL	ENSG00000165259		0.463	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	-	0.00	33	0	T	NM_144657		83599352	-1	tier1	-	no_errors	ENST00000297977	ensembl	human	known	74_37	silent	69.23	16	36	SNP	0.453	A
HIST1H4B	8366	genome.wustl.edu	37	6	26027469	26027469	+	Silent	SNP	G	G	A	rs569686893		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:26027469G>A	ENST00000377364.3	-	1	11	c.12C>T	c.(10-12)cgC>cgT	p.R4R		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	4					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGCCTTTGCCGCGACCAGACA	0.517																																																	0													50.0	48.0	48.0					6																	26027469		2203	4300	6503	SO:0001819	synonymous_variant	0			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.12C>T	6.37:g.26027469G>A			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R4	ENST00000377364.3	37	c.12	CCDS4572.1	6																																																																																			HIST1H4B	-	superfamily_Histone-fold	ENSG00000124529		0.517	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4B	HGNC	protein_coding	OTTHUMT00000040079.2		0.00	32	0	G	NM_003544		26027469	-1			no_errors	ENST00000377364	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.247	A
HIST1H2AL	8332	genome.wustl.edu	37	6	27833152	27833152	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:27833152A>T	ENST00000357320.2	+	1	119	c.20A>T	c.(19-21)cAg>cTg	p.Q7L		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	7						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CGCGGCAAGCAGGGAGGCAAA	0.572																																																	0													84.0	94.0	91.0					6																	27833152		2203	4300	6503	SO:0001583	missense	0			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.20A>T	6.37:g.27833152A>T	ENSP00000349873:p.Gln7Leu		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.Q7L	ENST00000357320.2	37	c.20	CCDS4634.1	6	.	.	.	.	.	.	.	.	.	.	.	8.647	0.897436	0.17686	.	.	ENSG00000198374	ENST00000357320	T	0.43294	0.95	4.89	3.69	0.42338	.	0.000000	0.29551	U	0.011831	T	0.30823	0.0777	.	.	.	0.26780	N	0.969619	.	.	.	.	.	.	T	0.12293	-1.0553	7	0.62326	D	0.03	.	11.1798	0.48620	0.8458:0.1542:0.0:0.0	.	.	.	.	L	7	ENSP00000349873:Q7L	ENSP00000349873:Q7L	Q	+	2	0	HIST1H2AL	27941131	0.973000	0.33851	0.059000	0.19551	0.005000	0.04900	2.934000	0.48956	0.793000	0.33875	0.533000	0.62120	CAG	HIST1H2AL	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000198374		0.572	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AL	HGNC	protein_coding	OTTHUMT00000040160.1	-	0.00	62	0	A	NM_003511		27833152	+1	tier1	-	no_errors	ENST00000357320	ensembl	human	known	74_37	missense	25.81	46	16	SNP	1.000	T
HLA-V	352962	genome.wustl.edu	37	6	29760373	29760373	+	RNA	SNP	A	A	C	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:29760373A>C	ENST00000457107.1	+	0	243									major histocompatibility complex, class I, V (pseudogene)																		TGGATGGAGCAGGAGGGGCCG	0.652													a|||	1897	0.378794	0.5946	0.3646	5008	,	,		11594	0.1925		0.3012	False		,,,				2504	0.3691																0																																												0			M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760373A>C				RNA	SNP	-	NULL	ENST00000457107.1	37	NULL		6																																																																																			HLA-V	-	-	ENSG00000181126		0.652	HLA-V-003	KNOWN	basic	processed_transcript	HLA-V	HGNC	pseudogene	OTTHUMT00000105231.1	-	0.00	35	0	A	NG_002729		29760373	+1	tier1	rs2905755	no_errors	ENST00000446817	ensembl	human	known	74_37	rna	18.92	30	7	SNP	1.000	C
HNRNPA1	3178	genome.wustl.edu	37	12	54675946	54675946	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:54675946G>T	ENST00000340913.6	+	4	405	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	HNRNPA1_ENST00000330752.8_Nonsense_Mutation_p.E118*|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Nonsense_Mutation_p.E118*|CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000546500.1_Nonsense_Mutation_p.E118*	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	118	Globular B domain.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGACACTGAAGAACATCACCT	0.383																																					Colon(83;502 1289 8436 16406 24870)												0													43.0	40.0	41.0					12																	54675946		1868	4091	5959	SO:0001587	stop_gained	0			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.352G>T	12.37:g.54675946G>T	ENSP00000341826:p.Glu118*		A8K4Z8|Q3MIB7|Q6PJZ7	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E118*	ENST00000340913.6	37	c.352	CCDS44909.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946126	0.92593	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	.	.	.	4.01	4.01	0.46588	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.4517	0.67389	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;118;118;69;118;118;137;73	.	ENSP00000333504:E118X	E	+	1	0	HNRNPA1	52962213	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.857000	0.99534	2.194000	0.70268	0.297000	0.19635	GAA	HNRNPA1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000135486		0.383	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	HNRNPA1	HGNC	protein_coding	OTTHUMT00000405480.1		0.00	24	0	G	NM_031157		54675946	+1			no_errors	ENST00000340913	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T
HNRNPH3	3189	genome.wustl.edu	37	10	70097608	70097608	+	Intron	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:70097608G>T	ENST00000265866.7	+	3	277				HNRNPH3_ENST00000354695.5_Intron|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Intron	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						TTGTCCTTGGGTTAAAGGGTT	0.418																																																	0													122.0	115.0	117.0					10																	70097608		2203	4300	6503	SO:0001627	intron_variant	0				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.113-7G>T	10.37:g.70097608G>T			A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	RNA	SNP	-	NULL	ENST00000265866.7	37	NULL	CCDS7278.1	10																																																																																			HNRNPH3	-	-	ENSG00000096746		0.418	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1	-	0.00	65	0	G			70097608	+1	tier1	-	no_errors	ENST00000469172	ensembl	human	known	74_37	rna	5.13	74	4	SNP	1.000	T
HPS3	84343	genome.wustl.edu	37	3	148868389	148868389	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:148868389C>T	ENST00000296051.2	+	6	1307	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	HPS3_ENST00000460120.1_Silent_p.N224N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	389					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCCTCAGTAACAACCTGCAGT	0.557									Hermansky-Pudlak syndrome																																								0													110.0	97.0	102.0					3																	148868389		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1167C>T	3.37:g.148868389C>T			A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	pirsf_HPS3	p.N389	ENST00000296051.2	37	c.1167	CCDS3140.1	3																																																																																			HPS3	-	pirsf_HPS3	ENSG00000163755		0.557	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	-	0.00	155	0	C	NM_032383		148868389	+1	tier1	-	no_errors	ENST00000296051	ensembl	human	known	74_37	silent	59.63	44	65	SNP	1.000	T
HSPG2	3339	genome.wustl.edu	37	1	22168802	22168802	+	Silent	SNP	G	G	A	rs143921375		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:22168802G>A	ENST00000374695.3	-	68	9061	c.8982C>T	c.(8980-8982)gcC>gcT	p.A2994A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2994	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGGGCCGCTGGCTGCACGAC	0.637																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	48.0	44.0	45.0		8982	-7.0	0.0	1	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2994/4392	22168802	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8982C>T	1.37:g.22168802G>A			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.A2994	ENST00000374695.3	37	c.8982	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0.00	89	0	G	NM_005529		22168802	-1	tier1	rs143921375	no_errors	ENST00000374695	ensembl	human	known	74_37	silent	31.25	55	25	SNP	0.000	A
HS2ST1	9653	genome.wustl.edu	37	1	87558249	87558249	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:87558249T>A	ENST00000370550.5	+	4	848	c.485T>A	c.(484-486)gTc>gAc	p.V162D	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.V136D|HS2ST1_ENST00000370551.4_Missense_Mutation_p.V162D|HS2ST1_ENST00000356813.4_Missense_Mutation_p.V136D	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	162					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TACATTAATGTCATAAGGGAT	0.343																																																	0													93.0	101.0	98.0					1																	87558249		2203	4293	6496	SO:0001583	missense	0			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.485T>A	1.37:g.87558249T>A	ENSP00000359581:p.Val162Asp		D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.V162D	ENST00000370550.5	37	c.485	CCDS711.1	1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313957	0.81358	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.51	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.66979	0.948;0.753	T	0.82862	-0.0247	10	0.87932	D	0	-14.9862	12.1912	0.54273	0.1279:0.0:0.0:0.872	.	162;136	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	D	162;162;136;136	ENSP00000359582:V162D;ENSP00000359581:V162D;ENSP00000359579:V136D;ENSP00000349268:V136D	ENSP00000349268:V136D	V	+	2	0	HS2ST1	87330837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.988000	0.88194	1.012000	0.39366	0.528000	0.53228	GTC	HS2ST1	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000153936		0.343	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS2ST1	HGNC	protein_coding	OTTHUMT00000028279.2	-	0.00	79	0	T	NM_012262		87558249	+1	tier1	-	no_errors	ENST00000370550	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A
HTRA3	94031	genome.wustl.edu	37	4	8305945	8305945	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:8305945T>A	ENST00000307358.2	+	8	1339	c.1135T>A	c.(1135-1137)Ttc>Atc	p.F379I		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	379	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CAACCCGGACTTCCCAGAGGT	0.582																																																	0													71.0	71.0	71.0					4																	8305945		2203	4300	6503	SO:0001583	missense	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1135T>A	4.37:g.8305945T>A	ENSP00000303766:p.Phe379Ile		Q7Z7A2	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.F379I	ENST00000307358.2	37	c.1135	CCDS3400.1	4	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926269	0.34002	.	.	ENSG00000170801	ENST00000307358	T	0.20332	2.08	4.55	2.1	0.27182	PDZ/DHR/GLGF (2);	0.125962	0.53938	D	0.000044	T	0.29321	0.0730	M	0.65498	2.005	0.80722	D	1	D	0.56035	0.974	P	0.50791	0.65	T	0.02526	-1.1146	10	0.66056	D	0.02	-16.9435	8.505	0.33181	0.0:0.1612:0.0:0.8388	.	379	P83110	HTRA3_HUMAN	I	379	ENSP00000303766:F379I	ENSP00000303766:F379I	F	+	1	0	HTRA3	8356845	1.000000	0.71417	0.423000	0.26634	0.170000	0.22686	2.821000	0.48065	0.174000	0.19809	0.402000	0.26972	TTC	HTRA3	-	superfamily_PDZ,smart_PDZ	ENSG00000170801		0.582	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	-	0.00	81	0	T	NM_053044		8305945	+1	tier1	-	no_errors	ENST00000307358	ensembl	human	known	74_37	missense	46.94	26	23	SNP	1.000	A
IFRD2	7866	genome.wustl.edu	37	3	50327897	50327898	+	Frame_Shift_Ins	INS	-	-	C	rs370371774		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:50327897_50327898insC	ENST00000429673.2	-	3	375_376	c.376_377insG	c.(376-378)gatfs	p.D126fs	IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000436390.1_Frame_Shift_Ins_p.D62fs|IFRD2_ENST00000417626.2_Frame_Shift_Ins_p.D62fs|IFRD2_ENST00000336089.4_Frame_Shift_Ins_p.D228fs			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	126						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATCCACGACATCCCCCCCTGCA	0.599																																																	0																																										SO:0001589	frameshift_variant	0			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.377dupG	3.37:g.50327904_50327904dupC	ENSP00000398971:p.Asp126fs		Q9BVB4|Q9UJ88	Frame_Shift_Ins	INS	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.D228fs	ENST00000429673.2	37	c.683_682	CCDS46831.1	3																																																																																			IFRD2	-	pfam_Interferon-rel_develop_reg_N	ENSG00000214706		0.599	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding			0.00	55	0	-	NM_006764		50327898	-1	tier1		no_errors	ENST00000336089	ensembl	human	known	74_37	frame_shift_ins	26.09	34	12	INS	0.995:0.996	C
INTS4L2	644619	genome.wustl.edu	37	7	65150713	65150714	+	RNA	INS	-	-	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:65150713_65150714insA	ENST00000430126.2	+	0	694_695							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		CATACCATGAGAAAATCTCTAA	0.436																																																	0																																												0			BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150717_65150717dupA				RNA	INS	-	NULL	ENST00000430126.2	37	NULL		7																																																																																			INTS4L2	-	-	ENSG00000232270		0.436	INTS4L2-002	KNOWN	basic	processed_transcript	INTS4L2	HGNC	pseudogene	OTTHUMT00000345545.2		0.00	59	0	0	NR_027392		65150714	+1			no_errors	ENST00000430126	ensembl	human	known	74_37	rna	9.59	66	7	INS	1.000:0.995	A
IRGQ	126298	genome.wustl.edu	37	19	44096941	44096941	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:44096941C>T	ENST00000602269.1	-	2	1294	c.1109G>A	c.(1108-1110)aGg>aAg	p.R370K	IRGQ_ENST00000422989.1_Missense_Mutation_p.R370K|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	370	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACATTTCTCCCTTCCCTTACT	0.557																																																	0													233.0	230.0	231.0					19																	44096941		2203	4300	6503	SO:0001583	missense	0			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1109G>A	19.37:g.44096941C>T	ENSP00000472250:p.Arg370Lys		B2RNP3	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R370K	ENST00000602269.1	37	c.1109	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	5.238	0.229393	0.09916	.	.	ENSG00000167378	ENST00000422989	T	0.47177	0.85	4.04	-2.2	0.06994	.	1.613180	0.03837	N	0.270043	T	0.25791	0.0628	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18650	-1.0330	10	0.59425	D	0.04	-27.4693	0.6829	0.00878	0.1709:0.3603:0.1668:0.302	.	370	Q8WZA9	IRGQ_HUMAN	K	370	ENSP00000387535:R370K	ENSP00000387535:R370K	R	-	2	0	IRGQ	48788781	0.001000	0.12720	0.000000	0.03702	0.063000	0.16089	0.151000	0.16283	-0.239000	0.09710	-0.136000	0.14681	AGG	IRGQ	-	NULL	ENSG00000167378		0.557	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	-	0.00	46	0	C	NM_001007561		44096941	-1	tier1	-	no_errors	ENST00000422989	ensembl	human	known	74_37	missense	12.77	82	12	SNP	0.000	T
IRX5	10265	genome.wustl.edu	37	16	54966542	54966542	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:54966542C>G	ENST00000394636.4	+	2	719	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V	IRX5_ENST00000558597.1_Missense_Mutation_p.L62V|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Missense_Mutation_p.L128V|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	128					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CACGGCTACCCTCAAGGCCTG	0.632																																																	0													145.0	112.0	123.0					16																	54966542		2198	4300	6498	SO:0001583	missense	0			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.382C>G	16.37:g.54966542C>G	ENSP00000378132:p.Leu128Val		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.L128V	ENST00000394636.4	37	c.382	CCDS10751.1	16	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831341	0.50845	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	D;D	0.95949	-3.86;-3.86	4.58	4.58	0.56647	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.82193	2.58	0.58432	D	0.999996	D	0.69078	0.997	D	0.85130	0.997	D	0.97447	1.0025	10	0.87932	D	0	-21.9084	10.7818	0.46382	0.0:0.9119:0.0:0.0881	.	128	P78411	IRX5_HUMAN	V	128	ENSP00000378132:L128V;ENSP00000316250:L128V	ENSP00000316250:L128V	L	+	1	0	IRX5	53524043	1.000000	0.71417	0.952000	0.39060	0.640000	0.38277	4.726000	0.61986	2.366000	0.80165	0.655000	0.94253	CTC	IRX5	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000176842		0.632	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	-	0.00	85	0	C			54966542	+1	tier1	-	no_errors	ENST00000394636	ensembl	human	known	74_37	missense	24.72	67	22	SNP	0.996	G
IZUMO1	284359	genome.wustl.edu	37	19	49244206	49244206	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:49244206G>T	ENST00000332955.2	-	10	1559	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K	RASIP1_ENST00000222145.4_5'Flank|RASIP1_ENST00000594232.1_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	338					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTGGGACCTGGGTTTGCTCG	0.512																																																	0													107.0	93.0	98.0					19																	49244206		2203	4300	6503	SO:0001583	missense	0			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.1012C>A	19.37:g.49244206G>T	ENSP00000327786:p.Gln338Lys		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	NULL	p.Q338K	ENST00000332955.2	37	c.1012	CCDS12732.1	19	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712677	0.30413	.	.	ENSG00000182264	ENST00000332955	T	0.23348	1.91	3.15	-3.87	0.04218	.	2.886840	0.01140	N	0.006191	T	0.14700	0.0355	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.08848	-1.0702	10	0.22706	T	0.39	0.1936	0.2822	0.00246	0.253:0.2847:0.2316:0.2307	.	338	Q8IYV9	IZUM1_HUMAN	K	338	ENSP00000327786:Q338K	ENSP00000327786:Q338K	Q	-	1	0	IZUMO1	53936018	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.382000	0.02546	-0.839000	0.04212	0.655000	0.94253	CAG	IZUMO1	-	NULL	ENSG00000182264		0.512	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO1	HGNC	protein_coding	OTTHUMT00000466189.1	-	0.00	59	0	G	NM_182575		49244206	-1	tier1	-	no_errors	ENST00000332955	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.000	T
JRKL	8690	genome.wustl.edu	37	11	96124568	96124568	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:96124568delA	ENST00000332349.4	+	2	1002	c.755delA	c.(754-756)caafs	p.Q252fs	CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Frame_Shift_Del_p.Q252fs|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	252	DDE.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		tatttcagccaaaaaggtgca	0.393																																																	0													23.0	19.0	20.0					11																	96124568		1802	3395	5197	SO:0001589	frameshift_variant	0			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.755delA	11.37:g.96124568delA	ENSP00000333350:p.Gln252fs		A8K3G4|B2RAJ3|Q32MC2	Frame_Shift_Del	DEL	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G254fs	ENST00000332349.4	37	c.755	CCDS8308.1	11																																																																																			JRKL	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000183340		0.393	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JRKL	HGNC	protein_coding	OTTHUMT00000337775.2		0.00	50	0	A	NM_003772		96124568	+1	tier1		no_errors	ENST00000332349	ensembl	human	known	74_37	frame_shift_del	10.00	27	3	DEL	1.000	-
KCNA4	3739	genome.wustl.edu	37	11	30034788	30034788	+	5'UTR	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:30034788A>T	ENST00000328224.6	-	0	671				KCNA4_ENST00000526518.1_5'UTR	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4						potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TTCTACTCAAAGTCTATCAGG	0.433																																																	0																																										SO:0001623	5_prime_UTR_variant	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.-563T>A	11.37:g.30034788A>T				RNA	SNP	-	NULL	ENST00000328224.6	37	NULL	CCDS41629.1	11																																																																																			KCNA4	-	-	ENSG00000182255		0.433	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	-	0.00	78	0	A	NM_002233		30034788	-1	tier1	-	no_errors	ENST00000526518	ensembl	human	putative	74_37	rna	65.98	33	64	SNP	0.005	T
KCNJ6	3763	genome.wustl.edu	37	21	39086663	39086663	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr21:39086663G>A	ENST00000609713.1	-	3	1386	c.797C>T	c.(796-798)aCg>aTg	p.T266M	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.T266M	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	266					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTCATCCCCCGTGTAATACCC	0.507																																					Pancreas(48;379 1118 2936 19024 28214)												0													127.0	130.0	129.0					21																	39086663		1928	4147	6075	SO:0001583	missense	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.797C>T	21.37:g.39086663G>A	ENSP00000477437:p.Thr266Met		Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.T266M	ENST00000609713.1	37	c.797	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525713	0.85600	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.91792	-2.91;-2.91	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95956	0.8958	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	266	P48051	IRK6_HUMAN	M	266	ENSP00000383330:T266M;ENSP00000288309:T266M	ENSP00000288309:T266M	T	-	2	0	KCNJ6	38008533	1.000000	0.71417	0.980000	0.43619	0.964000	0.63967	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACG	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000157542		0.507	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	-	0.00	80	0	G	NM_002240		39086663	-1	tier1	-	no_errors	ENST00000288309	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	A
KIAA0753	9851	genome.wustl.edu	37	17	6513430	6513430	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:6513430G>T	ENST00000361413.3	-	9	1954	c.1596C>A	c.(1594-1596)agC>agA	p.S532R	KIAA0753_ENST00000572370.1_Missense_Mutation_p.S233R|KIAA0753_ENST00000542606.1_Missense_Mutation_p.S233R|KIAA0753_ENST00000589033.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	532						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCTGCACTCTGCTTTTACTGT	0.468																																																	0													182.0	177.0	179.0					17																	6513430		1927	4137	6064	SO:0001583	missense	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1596C>A	17.37:g.6513430G>T	ENSP00000355250:p.Ser532Arg		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.S532R	ENST00000361413.3	37	c.1596	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646777	0.47258	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.86164	-2.08;-2.08	5.14	4.17	0.49024	.	0.325905	0.36066	N	0.002817	D	0.87775	0.6262	M	0.73962	2.25	0.80722	D	1	P	0.44429	0.835	P	0.45971	0.499	D	0.87935	0.2713	10	0.72032	D	0.01	-3.0743	9.7976	0.40744	0.0959:0.0:0.9041:0.0	.	532	Q2KHM9	K0753_HUMAN	R	532;233	ENSP00000355250:S532R;ENSP00000444634:S233R	ENSP00000355250:S532R	S	-	3	2	KIAA0753	6454154	1.000000	0.71417	0.977000	0.42913	0.418000	0.31294	2.769000	0.47654	1.312000	0.45043	0.650000	0.86243	AGC	KIAA0753	-	NULL	ENSG00000198920		0.468	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	-	0.00	66	0	G	NM_014804		6513430	-1	tier1	-	no_errors	ENST00000361413	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.958	T
KIAA1161	57462	genome.wustl.edu	37	9	34371718	34371718	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:34371718G>A	ENST00000297625.7	-	2	1347	c.1122C>T	c.(1120-1122)cgC>cgT	p.R374R		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	408					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGAACAGCTCGCGCTCCACGC	0.682																																																	0													22.0	26.0	25.0					9																	34371718		2031	4154	6185	SO:0001819	synonymous_variant	0			AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1122C>T	9.37:g.34371718G>A			Q5T587|Q5T588|Q9ULQ9	Silent	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	p.R374	ENST00000297625.7	37	c.1122		9																																																																																			KIAA1161	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000164976		0.682	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	KIAA1161	HGNC	protein_coding	OTTHUMT00000052158.1		0.00	9	0	G	XM_351807		34371718	-1			no_errors	ENST00000297625	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.941	A
KIAA1524	57650	genome.wustl.edu	37	3	108270008	108270008	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:108270008A>T	ENST00000295746.8	-	21	2782	c.2706T>A	c.(2704-2706)aaT>aaA	p.N902K	KIAA1524_ENST00000491772.1_Missense_Mutation_p.N743K	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	902					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATATACTGAGATTCACAGTTT	0.368																																																	0													90.0	84.0	86.0					3																	108270008		2202	4300	6502	SO:0001583	missense	0			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2706T>A	3.37:g.108270008A>T	ENSP00000295746:p.Asn902Lys		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N902K	ENST00000295746.8	37	c.2706	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910130	0.72983	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.15372	2.43;2.52	5.33	1.51	0.23008	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	M	0.67953	2.075	0.51233	D	0.999917	D	0.89917	1.0	D	0.87578	0.998	T	0.03315	-1.1049	10	0.87932	D	0	-19.5761	7.4827	0.27415	0.5299:0.0:0.4701:0.0	.	902	Q8TCG1	CIP2A_HUMAN	K	743;902	ENSP00000419487:N743K;ENSP00000295746:N902K	ENSP00000295746:N902K	N	-	3	2	KIAA1524	109752698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.922000	0.28734	0.308000	0.22923	0.482000	0.46254	AAT	KIAA1524	-	NULL	ENSG00000163507		0.368	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	-	0.00	93	0	A	NM_020890		108270008	-1	tier1	-	no_errors	ENST00000295746	ensembl	human	known	74_37	missense	28.99	49	20	SNP	1.000	T
KIAA1551	55196	genome.wustl.edu	37	12	32134931	32134931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:32134931C>T	ENST00000312561.4	+	4	1456	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	348								p.Q348*(1)									CAACAGCAAACAGCCTTTTAA	0.368																																																	1	Substitution - Nonsense(1)	large_intestine(1)											86.0	85.0	85.0					12																	32134931		2203	4300	6503	SO:0001587	stop_gained	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1042C>T	12.37:g.32134931C>T	ENSP00000310338:p.Gln348*		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	NULL	p.Q348*	ENST00000312561.4	37	c.1042	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	38	6.819189	0.97861	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	.	.	.	5.36	5.36	0.76844	.	0.121632	0.36234	N	0.002701	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8182	0.78621	0.0:1.0:0.0:0.0	.	.	.	.	X	348	.	.	Q	+	1	0	C12orf35	32026198	0.204000	0.23447	0.047000	0.18901	0.023000	0.10783	1.844000	0.39269	2.506000	0.84524	0.555000	0.69702	CAG	KIAA1551	-	NULL	ENSG00000174718		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2		0.00	27	0	C	NM_018169		32134931	+1			no_errors	ENST00000312561	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	0.027	T
KL	9365	genome.wustl.edu	37	13	33635918	33635918	+	Splice_Site	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:33635918G>T	ENST00000380099.3	+	4	2709		c.e4+1		KL_ENST00000487852.1_Splice_Site	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho						acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCTCTCAAAGGTAAGGAGCCC	0.463																																																	0													70.0	74.0	73.0					13																	33635918		2203	4300	6503	SO:0001630	splice_region_variant	0			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2701+1G>T	13.37:g.33635918G>T			Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Splice_Site	SNP	-	e4+1	ENST00000380099.3	37	c.2701+1	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539575	0.65085	.	.	ENSG00000133116	ENST00000380099	.	.	.	5.42	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.771	0.78167	0.0:0.0:0.8623:0.1376	.	.	.	.	.	-1	.	.	.	+	.	.	KL	32533918	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.805000	0.86005	1.380000	0.46344	0.655000	0.94253	.	KL	-	-	ENSG00000133116		0.463	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1		0.00	22	0	G		Intron	33635918	+1			no_errors	ENST00000380099	ensembl	human	known	74_37	splice_site	11.11	16	2	SNP	1.000	T
KLHL29	114818	genome.wustl.edu	37	2	23926638	23926638	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:23926638G>T	ENST00000486442.1	+	13	3066	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	783										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						TTTTCATCCTGGGCGGGGCTT	0.562																																																	0													137.0	120.0	125.0					2																	23926638		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.2349G>T	2.37:g.23926638G>T			Q8N388|Q96BF0|Q96PW7	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L783	ENST00000486442.1	37	c.2349	CCDS54335.1	2																																																																																			KLHL29	-	smart_Kelch_1	ENSG00000119771		0.562	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3	-	0.00	68	0	G	NM_052920		23926638	+1	tier1	-	no_errors	ENST00000486442	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T
KLHL42	57542	genome.wustl.edu	37	12	27950675	27950675	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:27950675G>T	ENST00000381271.2	+	3	1405	c.1094G>T	c.(1093-1095)tGc>tTc	p.C365F	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	365					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TTGCAGTACTGCCCCTCTTCC	0.493																																																	0													261.0	249.0	253.0					12																	27950675		2203	4300	6503	SO:0001583	missense	0			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1094G>T	12.37:g.27950675G>T	ENSP00000370671:p.Cys365Phe		Q2VPK1|Q8N334	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.C365F	ENST00000381271.2	37	c.1094	CCDS31763.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574815	0.86542	.	.	ENSG00000087448	ENST00000381271	T	0.66099	-0.19	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	L	0.51422	1.61	0.58432	D	0.999999	D	0.65815	0.995	D	0.68765	0.96	T	0.76250	-0.3028	10	0.59425	D	0.04	.	17.6797	0.88239	0.0:0.0:1.0:0.0	.	365	Q9P2K6	KLDC5_HUMAN	F	365	ENSP00000370671:C365F	ENSP00000370671:C365F	C	+	2	0	KLHDC5	27841942	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.193000	0.94954	2.394000	0.81467	0.561000	0.74099	TGC	KLHL42	-	smart_Kelch_1	ENSG00000087448		0.493	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL42	HGNC	protein_coding	OTTHUMT00000402904.1		0.00	53	0	G	NM_020782		27950675	+1			no_errors	ENST00000381271	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49431220	49431220	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:49431220C>T	ENST00000301067.7	-	34	9918	c.9919G>A	c.(9919-9921)Gct>Act	p.A3307T	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3307	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S3305fs*20(1)|p.S3035fs*20(1)									TGGGACCCAGCCAAACTGGGA	0.627																																																	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)											18.0	21.0	20.0					12																	49431220		2096	4232	6328	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9919G>A	12.37:g.49431220C>T	ENSP00000301067:p.Ala3307Thr		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A3307T	ENST00000301067.7	37	c.9919	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	9.176	1.022333	0.19433	.	.	ENSG00000167548	ENST00000301067	T	0.79454	-1.27	5.24	3.34	0.38264	.	1.101140	0.07191	N	0.855684	T	0.61813	0.2377	N	0.08118	0	0.21553	N	0.999645	B	0.20671	0.047	B	0.15870	0.014	T	0.53753	-0.8394	10	0.87932	D	0	.	9.5708	0.39427	0.3049:0.564:0.1311:0.0	.	3307	O14686	MLL2_HUMAN	T	3307	ENSP00000301067:A3307T	ENSP00000301067:A3307T	A	-	1	0	MLL2	47717487	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	0.719000	0.25881	0.651000	0.30788	0.655000	0.94253	GCT	KMT2D	-	NULL	ENSG00000167548		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	29	0	C			49431220	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.951	T
KMT2E	55904	genome.wustl.edu	37	7	104746052	104746052	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:104746052A>T	ENST00000311117.3	+	18	2908	c.2363A>T	c.(2362-2364)aAg>aTg	p.K788M	KMT2E_ENST00000257745.4_Missense_Mutation_p.K788M|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.K788M|CTB-152G17.6_ENST00000607968.1_RNA	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	788					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TCCACTCCTAAGCATTATATT	0.383																																																	0													125.0	124.0	125.0					7																	104746052		2203	4300	6503	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2363A>T	7.37:g.104746052A>T	ENSP00000312379:p.Lys788Met		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.K788M	ENST00000311117.3	37	c.2363	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499062	0.64298	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93811	-3.29;-2.88;-3.29	6.04	6.04	0.98038	.	0.047464	0.85682	D	0.000000	D	0.95629	0.8579	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96044	0.9026	10	0.87932	D	0	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	788	Q8IZD2	MLL5_HUMAN	M	788;788;788;708;788	ENSP00000312379:K788M;ENSP00000335599:K788M;ENSP00000257745:K788M	ENSP00000257745:K788M	K	+	2	0	MLL5	104533288	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.700000	0.91322	2.317000	0.78254	0.460000	0.39030	AAG	KMT2E	-	NULL	ENSG00000005483		0.383	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0.00	70	0	A			104746052	+1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	15.48	70	13	SNP	1.000	T
KRT1	3848	genome.wustl.edu	37	12	53074082	53074082	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:53074082G>T	ENST00000252244.3	-	1	109	c.51C>A	c.(49-51)ttC>ttA	p.F17L		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	17	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AGCCAGAGCTGAAGCCCCCTC	0.542																																																	0													73.0	80.0	78.0					12																	53074082		2203	4300	6503	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.51C>A	12.37:g.53074082G>T	ENSP00000252244:p.Phe17Leu		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.F17L	ENST00000252244.3	37	c.51	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120392	0.37436	.	.	ENSG00000167768	ENST00000252244	D	0.87179	-2.22	4.36	0.524	0.17066	.	.	.	.	.	D	0.87533	0.6201	M	0.87547	2.89	0.29892	N	0.825169	B	0.18461	0.028	B	0.09377	0.004	T	0.81097	-0.1087	9	0.59425	D	0.04	.	11.6603	0.51343	0.129:0.0:0.871:0.0	.	17	P04264	K2C1_HUMAN	L	17	ENSP00000252244:F17L	ENSP00000252244:F17L	F	-	3	2	KRT1	51360349	0.992000	0.36948	0.510000	0.27712	0.526000	0.34562	0.715000	0.25822	-0.126000	0.11682	0.491000	0.48974	TTC	KRT1	-	NULL	ENSG00000167768		0.542	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1		0.00	39	0	G	NM_006121		53074082	-1			no_errors	ENST00000252244	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.975	T
KRTAP4-9	100132386	genome.wustl.edu	37	17	39262214	39262214	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:39262214C>T	ENST00000391415.1	+	1	631	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	192					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TTGCTATCGCCCAACCTGTGT	0.652																																																	0													55.0	60.0	59.0					17																	39262214		692	1590	2282	SO:0001583	missense	0			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.574C>T	17.37:g.39262214C>T	ENSP00000375234:p.Pro192Ser			Missense_Mutation	SNP	pfam_Keratin-assoc	p.P192S	ENST00000391415.1	37	c.574	CCDS54124.1	17	.	.	.	.	.	.	.	.	.	.	.	7.383	0.629106	0.14257	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00584	6.4	2.08	2.08	0.27032	.	0.523360	0.14159	U	0.337510	T	0.00845	0.0028	M	0.67397	2.05	0.23649	N	0.997203	B	0.21905	0.062	B	0.30179	0.112	T	0.40961	-0.9535	10	0.62326	D	0.03	.	4.6969	0.12808	0.0:0.817:0.0:0.183	.	192	Q9BYQ8	KRA49_HUMAN	S	180;192;183	ENSP00000375234:P192S	ENSP00000334461:P183S	P	+	1	0	KRTAP4-9	36515740	0.061000	0.20836	1.000000	0.80357	0.238000	0.25445	1.240000	0.32731	1.489000	0.48450	0.194000	0.17425	CCA	KRTAP4-9	-	NULL	ENSG00000212722		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	HGNC	protein_coding	OTTHUMT00000257688.1	-	0.00	153	0	C	NM_001146041		39262214	+1	tier1	-	no_errors	ENST00000391415	ensembl	human	known	74_37	missense	33.11	99	49	SNP	0.984	T
LINC00693	645206	genome.wustl.edu	37	3	28616803	28616803	+	RNA	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:28616803C>T	ENST00000432518.2	+	0	522				LINC00693_ENST00000443912.1_RNA|LINC00693_ENST00000445077.1_RNA	NR_038840.1				long intergenic non-protein coding RNA 693																		GACTCGCGTCCTCGCTGTCCC	0.642																																																	0																																												0					3p24.1	2012-11-14			ENSG00000228214	ENSG00000228214		"""Long non-coding RNAs"""	44526	non-coding RNA	RNA, long non-coding							Standard	NR_038840		Approved		uc021wur.1		OTTHUMG00000155718		3.37:g.28616803C>T				RNA	SNP	-	NULL	ENST00000432518.2	37	NULL		3																																																																																			LINC00693	-	-	ENSG00000228214		0.642	LINC00693-001	KNOWN	basic	antisense	LINC00693	HGNC	antisense	OTTHUMT00000341375.2	-	0.00	15	0	C			28616803	+1	tier1	-	no_errors	ENST00000432518	ensembl	human	known	74_37	rna	60.00	4	6	SNP	0.001	T
Unknown	0	genome.wustl.edu	37	GL000219.1	88293	88293	+	IGR	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrGL000219.1:88293A>C								None (None upstream) : None (None downstream)																							CCAGACACAAACCTTCTTTGT	0.413																																																	0																																										SO:0001628	intergenic_variant	0																															GL000219.1.37:g.88293A>C				Splice_Site	SNP	-	e1+2		37	c.66+2		GL000219.1																																																																																			AL592183.1	-	-	ENSG00000220023	0	0.413					LOC100996779	Clone_based_ensembl_gene			-	0.00	371	0	A			88293	-1	tier1	-	no_errors	ENST00000418749	ensembl	human	known	74_37	splice_site	11.78	292	39	SNP	NULL	C
VLDLR	7436	genome.wustl.edu	37	9	2622172	2622172	+	5'UTR	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:2622172A>G	ENST00000382100.3	+	0	339				VLDLR_ENST00000382099.2_5'UTR|RP11-125B21.2_ENST00000453601.1_RNA|RP11-125B21.2_ENST00000416826.2_RNA|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		cggcggcggcACCATCCAGGC	0.736																																																	0													1.0	1.0	1.0					9																	2622172		975	2269	3244	SO:0001623	5_prime_UTR_variant	0				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.-18A>G	9.37:g.2622172A>G			B2RMZ7|D3DRH6|Q5VVF6	RNA	SNP	-	NULL	ENST00000382100.3	37	NULL	CCDS6446.1	9																																																																																			RP11-125B21.2	-	-	ENSG00000236404		0.736	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC101930053	Clone_based_vega_gene	protein_coding	OTTHUMT00000051519.2		0.00	14	0	A	NM_003383		2622172	-1			no_errors	ENST00000453601	ensembl	human	known	74_37	rna	31.25	11	5	SNP	1.000	G
LOC400743	400743	genome.wustl.edu	37	1	17521379	17521379	+	lincRNA	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:17521379G>T	ENST00000412427.1	+	0	1943																											GGCCAGCTGTGGGATGGGTGG	0.552																																																	0																																												0																															1.37:g.17521379G>T				RNA	SNP	-	NULL	ENST00000412427.1	37	NULL		1																																																																																			RP11-380J14.1	-	-	ENSG00000204362		0.552	RP11-380J14.1-001	KNOWN	basic	lincRNA	LOC400743	Clone_based_vega_gene	lincRNA	OTTHUMT00000006615.1	-	0.00	19	0	G			17521379	+1	tier1	-	no_errors	ENST00000412427	ensembl	human	known	74_37	rna	21.05	15	4	SNP	0.003	T
LOC440602	440602	genome.wustl.edu	37	1	111032771	111032771	+	lincRNA	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:111032771G>T	ENST00000457402.1	-	0	109				CYMP_ENST00000420853.1_RNA																							CCGCTTCTAAGAGGGCCTCCC	0.617																																																	0																																												0																															1.37:g.111032771G>T				RNA	SNP	-	NULL	ENST00000457402.1	37	NULL		1																																																																																			RP11-470L19.2	-	-	ENSG00000235407		0.617	RP11-470L19.2-001	KNOWN	basic	lincRNA	LOC440602	Clone_based_vega_gene	lincRNA	OTTHUMT00000059079.1		0.00	60	0	G			111032771	-1			no_errors	ENST00000457402	ensembl	human	known	74_37	rna	8.00	46	4	SNP	0.047	T
LOC644669	644669	genome.wustl.edu	37	18	15316546	15316546	+	RNA	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:15316546A>G	ENST00000455308.2	-	0	877					NR_027417.1																						agagaagctgaacatactgac	0.373																																																	0																																												0																															18.37:g.15316546A>G				RNA	SNP	-	NULL	ENST00000455308.2	37	NULL		18																																																																																			AP005901.1	-	-	ENSG00000215512		0.373	AP005901.1-001	KNOWN	basic	processed_transcript	LOC644669	Clone_based_vega_gene	pseudogene	OTTHUMT00000373635.1	-	0.00	42	0	A			15316546	-1	tier1	-	no_errors	ENST00000455308	ensembl	human	known	74_37	rna	12.24	43	6	SNP	0.174	G
LRP1B	53353	genome.wustl.edu	37	2	141253199	141253199	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:141253199T>C	ENST00000389484.3	-	56	9940	c.8969A>G	c.(8968-8970)aAg>aGg	p.K2990R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2990	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		ACAGAGGCACTTGTAAGTCCC	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													203.0	181.0	189.0					2																	141253199		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.8969A>G	2.37:g.141253199T>C	ENSP00000374135:p.Lys2990Arg		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.K2990R	ENST00000389484.3	37	c.8969	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742539	0.30865	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87491	-2.26	5.83	3.44	0.39384	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.063176	0.64402	D	0.000008	T	0.69860	0.3158	N	0.04260	-0.245	0.38246	D	0.941464	B	0.02656	0.0	B	0.06405	0.002	T	0.59284	-0.7483	10	0.19147	T	0.46	.	9.7523	0.40483	0.0:0.1446:0.0:0.8554	.	2990	Q9NZR2	LRP1B_HUMAN	R	2990;2928	ENSP00000374135:K2990R	ENSP00000374135:K2990R	K	-	2	0	LRP1B	140969669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.821000	0.48065	0.468000	0.27243	0.477000	0.44152	AAG	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000168702		0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	68	0	T	NM_018557		141253199	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	C
LRRC8D	55144	genome.wustl.edu	37	1	90399229	90399229	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:90399229G>A	ENST00000337338.5	+	3	1009	c.602G>A	c.(601-603)gGa>gAa	p.G201E	LRRC8D_ENST00000394593.3_Missense_Mutation_p.G201E	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	201					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCAATATTAGGAAAGTGCTTT	0.393																																																	0													59.0	61.0	60.0					1																	90399229		2203	4300	6503	SO:0001583	missense	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.602G>A	1.37:g.90399229G>A	ENSP00000338887:p.Gly201Glu		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G201E	ENST00000337338.5	37	c.602	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863898	0.51482	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.43688	1.54;1.54;0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	M	0.65498	2.005	0.80722	D	1	P	0.38420	0.63	B	0.37387	0.248	T	0.14227	-1.0480	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	201	Q7L1W4	LRC8D_HUMAN	E	201	ENSP00000338887:G201E;ENSP00000378093:G201E;ENSP00000405784:G201E	.	G	+	2	0	LRRC8D	90171817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA	LRRC8D	-	NULL	ENSG00000171492		0.393	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	-	0.00	39	0	G	NM_018103		90399229	+1	tier1	-	no_errors	ENST00000337338	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	A
LRRFIP2	9209	genome.wustl.edu	37	3	37146969	37146969	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:37146969T>C	ENST00000336686.4	-	14	840	c.760A>G	c.(760-762)Agt>Ggt	p.S254G	LRRFIP2_ENST00000421307.1_Missense_Mutation_p.S254G|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	254	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.S254G(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGTCCACGACTGGCACGATCA	0.393																																																	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|endometrium(1)											139.0	119.0	126.0					3																	37146969		2203	4300	6503	SO:0001583	missense	0			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.760A>G	3.37:g.37146969T>C	ENSP00000338727:p.Ser254Gly		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.S254G	ENST00000336686.4	37	c.760	CCDS2664.1	3	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327790	0.41197	.	.	ENSG00000093167	ENST00000421307;ENST00000336686	T;T	0.48836	0.8;0.8	6.17	6.17	0.99709	.	0.148541	0.64402	D	0.000013	T	0.24236	0.0587	N	0.08118	0	0.26250	N	0.978734	B	0.06786	0.001	B	0.04013	0.001	T	0.09862	-1.0655	10	0.25751	T	0.34	-20.892	5.9184	0.19067	0.1473:0.0758:0.0:0.7769	.	254	Q9Y608	LRRF2_HUMAN	G	254	ENSP00000392217:S254G;ENSP00000338727:S254G	ENSP00000338727:S254G	S	-	1	0	LRRFIP2	37121973	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.335000	0.33839	2.371000	0.80710	0.533000	0.62120	AGT	LRRFIP2	-	NULL	ENSG00000093167		0.393	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	HGNC	protein_coding	OTTHUMT00000253335.3		0.00	34	0	T	NM_006309		37146969	-1			no_errors	ENST00000336686	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	C
LRRIQ4	344657	genome.wustl.edu	37	3	169540621	169540621	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:169540621C>T	ENST00000340806.6	+	1	912	c.912C>T	c.(910-912)aaC>aaT	p.N304N		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	304										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTGGTCAACTTGCGCTTCC	0.582																																																	0													41.0	42.0	42.0					3																	169540621		2035	4183	6218	SO:0001819	synonymous_variant	0				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.912C>T	3.37:g.169540621C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.N304	ENST00000340806.6	37	c.912	CCDS46951.1	3																																																																																			LRRIQ4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188306		0.582	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	-	0.00	38	0	C	NM_001080460		169540621	+1	tier1	-	no_errors	ENST00000340806	ensembl	human	known	74_37	silent	42.86	20	15	SNP	0.000	T
LRRTM1	347730	genome.wustl.edu	37	2	80529477	80529477	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:80529477C>T	ENST00000295057.3	-	2	2124	c.1468G>A	c.(1468-1470)Gtt>Att	p.V490I	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V490I|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	490					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V490I(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TTGTAATCAACGTAGTATTCC	0.552										HNSCC(69;0.2)																																							2	Substitution - Missense(2)	pancreas(2)											144.0	118.0	127.0					2																	80529477		2203	4300	6503	SO:0001583	missense	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1468G>A	2.37:g.80529477C>T	ENSP00000295057:p.Val490Ile		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V490I	ENST00000295057.3	37	c.1468	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385717	0.61956	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.44881	0.91;0.91	4.99	4.99	0.66335	.	0.000000	0.64402	U	0.000004	T	0.46718	0.1407	L	0.52573	1.65	0.80722	D	1	D	0.64830	0.994	P	0.47786	0.557	T	0.42799	-0.9430	9	.	.	.	.	18.2542	0.90014	0.0:1.0:0.0:0.0	.	490	Q86UE6	LRRT1_HUMAN	I	490	ENSP00000295057:V490I;ENSP00000386646:V490I	.	V	-	1	0	LRRTM1	80382988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.067000	0.71193	2.276000	0.75962	0.561000	0.74099	GTT	LRRTM1	-	NULL	ENSG00000162951		0.552	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	-	0.00	62	0	C	NM_178839		80529477	-1	tier1	-	no_errors	ENST00000295057	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	T
MAG	4099	genome.wustl.edu	37	19	35791232	35791232	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:35791232G>A	ENST00000392213.3	+	6	1054	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	MAG_ENST00000361922.4_Missense_Mutation_p.E299K|MAG_ENST00000537831.2_Missense_Mutation_p.E274K	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	299	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACCCCCGCCGAAGACGGCGT	0.682																																																	0													24.0	25.0	25.0					19																	35791232		2201	4299	6500	SO:0001583	missense	0			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.895G>A	19.37:g.35791232G>A	ENSP00000376048:p.Glu299Lys		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E299K	ENST00000392213.3	37	c.895	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	g	10.53	1.375505	0.24857	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.67698	-0.28;-0.28;-0.28	4.03	4.03	0.46877	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.425981	0.25651	N	0.029211	T	0.51058	0.1652	L	0.37697	1.125	0.23356	N	0.997845	P;P;P	0.40032	0.699;0.568;0.568	B;B;B	0.33568	0.166;0.053;0.083	T	0.52403	-0.8580	10	0.51188	T	0.08	.	9.7098	0.40238	0.0:0.2123:0.7877:0.0	.	336;299;299	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	K	336;299;299;274	ENSP00000355234:E299K;ENSP00000376048:E299K;ENSP00000440695:E274K	ENSP00000262624:E336K	E	+	1	0	MAG	40483072	0.959000	0.32827	0.856000	0.33681	0.231000	0.25187	1.950000	0.40323	2.077000	0.62373	0.298000	0.19748	GAA	MAG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105695		0.682	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	HGNC	protein_coding	OTTHUMT00000466071.1	-	0.00	60	0	G	NM_080600		35791232	+1	tier1	-	no_errors	ENST00000392213	ensembl	human	known	74_37	missense	56.86	22	29	SNP	0.376	A
MAGEC3	139081	genome.wustl.edu	37	X	140983197	140983197	+	Intron	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:140983197A>T	ENST00000298296.1	+	5	1048				MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000448920.1_Missense_Mutation_p.K103M|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_Intron|MAGEC3_ENST00000544766.1_Intron	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)					CCTCAAGGTAAGGGCCCTAAG	0.572																																																	0													91.0	82.0	85.0					X																	140983197		2202	4300	6502	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.1048+4A>T	X.37:g.140983197A>T			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	NULL	p.K103M	ENST00000298296.1	37	c.308	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	N	5.324	0.245057	0.10077	.	.	ENSG00000165509	ENST00000448920	T	0.35421	1.31	0.683	0.683	0.17998	.	.	.	.	.	T	0.27559	0.0677	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	.	.	.	.	.	.	.	M	103	ENSP00000395092:K103M	.	K	+	2	0	MAGEC3	140810863	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.391000	0.34475	0.503000	0.28060	0.289000	0.19496	AAG	MAGEC3	-	NULL	ENSG00000165509		0.572	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0.00	47	0	A	NM_138702		140983197	+1	tier1	-	no_errors	ENST00000448920	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.001	T
MAGEA1	4100	genome.wustl.edu	37	X	152482748	152482748	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:152482748G>A	ENST00000356661.5	-	3	481	c.263C>T	c.(262-264)cCa>cTa	p.P88L		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	88					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGTGCTTGGCCCCTCCTC	0.552																																																	0													98.0	95.0	96.0					X																	152482748		2203	4300	6503	SO:0001583	missense	0				CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.263C>T	X.37:g.152482748G>A	ENSP00000349085:p.Pro88Leu		B2RC81|O00346	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P88L	ENST00000356661.5	37	c.263	CCDS14720.1	X	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713084	0.30413	.	.	ENSG00000198681	ENST00000356661	T	0.05649	3.41	1.04	1.04	0.20106	Melanoma associated antigen, MAGE, N-terminal (1);	0.869566	0.10301	N	0.691176	T	0.20700	0.0498	M	0.82923	2.615	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.12528	-1.0544	10	0.31617	T	0.26	.	5.13	0.14905	0.0:0.0:1.0:0.0	.	88	P43355	MAGA1_HUMAN	L	88	ENSP00000349085:P88L	ENSP00000349085:P88L	P	-	2	0	MAGEA1	152135942	0.004000	0.15560	0.004000	0.12327	0.131000	0.20780	1.104000	0.31074	0.809000	0.34255	0.384000	0.25694	CCA	MAGEA1	-	pfam_Melanoma_ass_antigen_N	ENSG00000198681		0.552	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA1	HGNC	protein_coding	OTTHUMT00000060940.1	-	0.00	62	0	G	NM_004988		152482748	-1	tier1	-	no_errors	ENST00000356661	ensembl	human	known	74_37	missense	74.65	18	53	SNP	0.004	A
MALSU1	115416	genome.wustl.edu	37	7	23339222	23339222	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:23339222C>T	ENST00000466681.1	+	1	404	c.251C>T	c.(250-252)gCg>gTg	p.A84V	MALSU1_ENST00000479974.1_Intron	NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	84					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											GAATCGGACGCGGCAGGTACG	0.657																																																	0													12.0	15.0	14.0					7																	23339222		2183	4288	6471	SO:0001583	missense	0			BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.251C>T	7.37:g.23339222C>T	ENSP00000419370:p.Ala84Val		A4D154	Missense_Mutation	SNP	pfam_Oligomer_dom,tigrfam_Iojap/RsfS	p.A84V	ENST00000466681.1	37	c.251	CCDS5381.1	7	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945127	0.53079	.	.	ENSG00000156928	ENST00000466681	.	.	.	3.62	3.62	0.41486	.	1.185850	0.06245	N	0.691079	T	0.24547	0.0595	N	0.22421	0.69	0.09310	N	1	P	0.34587	0.458	B	0.20184	0.028	T	0.08207	-1.0733	9	0.46703	T	0.11	-2.112	11.0657	0.47974	0.0:1.0:0.0:0.0	.	84	Q96EH3	CG030_HUMAN	V	84	.	ENSP00000419370:A84V	A	+	2	0	C7orf30	23305747	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.788000	0.26872	2.324000	0.78689	0.655000	0.94253	GCG	MALSU1	-	NULL	ENSG00000156928		0.657	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MALSU1	HGNC	protein_coding	OTTHUMT00000250241.2	-	0.00	41	0	C	NM_138446		23339222	+1	tier1	-	no_errors	ENST00000466681	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.004	T
MAML2	84441	genome.wustl.edu	37	11	95825153	95825153	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:95825153C>G	ENST00000524717.1	-	2	3326	c.2042G>C	c.(2041-2043)aGg>aCg	p.R681T		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	681					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAAGGTGACCTTAGCAAAGG	0.507			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													63.0	65.0	65.0					11																	95825153		2193	4293	6486	SO:0001583	missense	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2042G>C	11.37:g.95825153C>G	ENSP00000434552:p.Arg681Thr		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.R681T	ENST00000524717.1	37	c.2042	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	C	9.736	1.163585	0.21538	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.45668	0.89;0.89	5.54	5.54	0.83059	.	0.419636	0.21181	N	0.078806	T	0.53190	0.1781	L	0.43152	1.355	0.29535	N	0.852493	D	0.57899	0.981	D	0.69824	0.966	T	0.44862	-0.9300	10	0.13470	T	0.59	-19.1964	14.9894	0.71374	0.0:1.0:0.0:0.0	.	681	Q8IZL2	MAML2_HUMAN	T	681	ENSP00000434552:R681T;ENSP00000412394:R681T	ENSP00000412394:R681T	R	-	2	0	MAML2	95464801	0.995000	0.38212	0.500000	0.27589	0.010000	0.07245	1.628000	0.37060	2.584000	0.87258	0.655000	0.94253	AGG	MAML2	-	NULL	ENSG00000184384		0.507	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0.00	96	0	C			95825153	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	missense	30.56	50	22	SNP	0.667	G
MAP1S	55201	genome.wustl.edu	37	19	17837647	17837647	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:17837647A>G	ENST00000324096.4	+	5	1605	c.1454A>G	c.(1453-1455)gAg>gGg	p.E485G	MAP1S_ENST00000544059.2_Missense_Mutation_p.E459G|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	485	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCGAAGAGAGAGGGCCTCCTG	0.697																																																	0													4.0	5.0	5.0					19																	17837647		2024	4016	6040	SO:0001583	missense	0			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1454A>G	19.37:g.17837647A>G	ENSP00000325313:p.Glu485Gly		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.E485G	ENST00000324096.4	37	c.1454	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	A	13.28	2.190488	0.38707	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03580	3.88;3.88	2.71	1.5	0.22942	.	0.211342	0.23962	N	0.042846	T	0.05044	0.0135	L	0.31207	0.915	0.09310	N	1	D;D;B	0.54207	0.965;0.965;0.046	P;P;B	0.52793	0.709;0.709;0.008	T	0.30387	-0.9980	10	0.54805	T	0.06	.	6.5597	0.22479	0.7553:0.2446:0.0:0.0	.	459;485;485	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	G	485;459	ENSP00000325313:E485G;ENSP00000439243:E459G	ENSP00000325313:E485G	E	+	2	0	MAP1S	17698647	0.080000	0.21391	0.049000	0.19019	0.094000	0.18550	0.550000	0.23345	1.012000	0.39366	0.402000	0.26972	GAG	MAP1S	-	NULL	ENSG00000130479		0.697	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1		0.00	35	0	A	NM_018174		17837647	+1			no_errors	ENST00000324096	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.001	G
MAPK4	5596	genome.wustl.edu	37	18	48256214	48256214	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:48256214delA	ENST00000400384.2	+	6	2790	c.1754delA	c.(1753-1755)gaafs	p.E585fs	MAPK4_ENST00000540640.1_Frame_Shift_Del_p.E374fs|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	585					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTCTCCAAAGAAAGGTGGTGA	0.682																																																	0													14.0	17.0	16.0					18																	48256214		1951	4128	6079	SO:0001589	frameshift_variant	0			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1754delA	18.37:g.48256214delA	ENSP00000383234:p.Glu585fs		A1A4C4|Q0VG04	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	p.R586fs	ENST00000400384.2	37	c.1754	CCDS42437.1	18																																																																																			MAPK4	-	NULL	ENSG00000141639		0.682	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2		0.00	19	0	A	NM_002747		48256214	+1	tier1		no_errors	ENST00000400384	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	1.000	-
MCAM	4162	genome.wustl.edu	37	11	119183561	119183561	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:119183561G>T	ENST00000264036.4	-	6	672	c.658C>A	c.(658-660)Cag>Aag	p.Q220K	MCAM_ENST00000392814.1_Missense_Mutation_p.Q169K|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	220	Ig-like V-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CAGTAAAACTGGGCATCTTTG	0.512																																																	0													119.0	117.0	118.0					11																	119183561		2199	4295	6494	SO:0001583	missense	0			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.658C>A	11.37:g.119183561G>T	ENSP00000264036:p.Gln220Lys		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q220K	ENST00000264036.4	37	c.658	CCDS31690.1	11	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268799	0.40095	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.75154	-0.91;-0.91	5.69	5.69	0.88448	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61173	0.2326	N	0.24115	0.695	0.32283	N	0.567346	B	0.15930	0.015	B	0.19666	0.026	T	0.58487	-0.7628	9	0.12430	T	0.62	-11.0093	14.4173	0.67158	0.0:0.1472:0.8528:0.0	.	220	P43121	MUC18_HUMAN	K	220;169	ENSP00000264036:Q220K;ENSP00000376561:Q169K	ENSP00000264036:Q220K	Q	-	1	0	MCAM	118688771	0.944000	0.32072	1.000000	0.80357	0.986000	0.74619	1.769000	0.38522	2.681000	0.91329	0.561000	0.74099	CAG	MCAM	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000076706		0.512	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2		0.00	51	0	G			119183561	-1			no_errors	ENST00000264036	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.986	T
MDH1B	130752	genome.wustl.edu	37	2	207629974	207629974	+	Splice_Site	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:207629974C>T	ENST00000374412.3	-	1	297	c.22G>A	c.(22-24)Ggt>Agt	p.G8S	MDH1B_ENST00000392214.2_Splice_Site_p.G8S|MDH1B_ENST00000449792.1_5'UTR|FASTKD2_ENST00000403094.3_5'Flank|FASTKD2_ENST00000236980.6_5'Flank|MDH1B_ENST00000454776.2_Splice_Site_p.G8S|FASTKD2_ENST00000402774.3_5'Flank	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	8					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GATCACTCACCCGCGATGACG	0.647																																					Pancreas(76;29 1355 28675 37177 51207)												0													56.0	60.0	58.0					2																	207629974		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.22+1G>A	2.37:g.207629974C>T			A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.G8S	ENST00000374412.3	37	c.22	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889427	0.72524	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T;T	0.59906	0.23;0.23;0.23	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.83483	2.645	0.43598	D	0.995952	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79529	-0.1766	9	.	.	.	-21.8644	15.311	0.74031	0.0:1.0:0.0:0.0	.	8;8	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	S	8	ENSP00000363533:G8S;ENSP00000389916:G8S;ENSP00000376049:G8S	.	G	-	1	0	MDH1B	207338219	0.993000	0.37304	0.978000	0.43139	0.058000	0.15608	3.846000	0.55888	2.571000	0.86741	0.462000	0.41574	GGT	MDH1B	-	NULL	ENSG00000138400		0.647	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	-	0.00	78	0	C	NM_001039845	Missense_Mutation	207629974	-1	tier1	-	no_errors	ENST00000374412	ensembl	human	known	74_37	missense	35.19	35	19	SNP	0.994	T
METTL22	79091	genome.wustl.edu	37	16	8719651	8719651	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:8719651G>T	ENST00000381920.3	+	2	387	c.129G>T	c.(127-129)caG>caT	p.Q43H	METTL22_ENST00000561758.1_Missense_Mutation_p.Q43H	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	43						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						GCGTGGGGCAGCCAGGTAAGG	0.512																																																	0													100.0	97.0	98.0					16																	8719651		2003	4172	6175	SO:0001583	missense	0			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.129G>T	16.37:g.8719651G>T	ENSP00000371345:p.Gln43His		B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.Q43H	ENST00000381920.3	37	c.129	CCDS10533.2	16	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928060	0.52759	.	.	ENSG00000067365	ENST00000381920;ENST00000163678	T;T	0.67865	1.42;-0.29	4.92	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.72894	2.215	0.51012	D	0.999906	D	0.89917	1.0	D	0.74023	0.982	T	0.78102	-0.2335	10	0.87932	D	0	-25.1574	9.4101	0.38487	0.2069:0.0:0.7931:0.0	.	43	Q9BUU2	MET22_HUMAN	H	43	ENSP00000371345:Q43H;ENSP00000163678:Q43H	ENSP00000163678:Q43H	Q	+	3	2	METTL22	8627152	1.000000	0.71417	0.999000	0.59377	0.543000	0.35085	2.502000	0.45398	1.067000	0.40740	-0.218000	0.12543	CAG	METTL22	-	NULL	ENSG00000067365		0.512	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL22	HGNC	protein_coding	OTTHUMT00000251901.1	-	0.00	38	0	G	NM_024109		8719651	+1	tier1	-	no_errors	ENST00000381920	ensembl	human	known	74_37	missense	10.26	34	4	SNP	1.000	T
MGAM	8972	genome.wustl.edu	37	7	141750548	141750548	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:141750548T>G	ENST00000549489.2	+	24	2784	c.2689T>G	c.(2689-2691)Tta>Gta	p.L897V	MGAM_ENST00000475668.2_Missense_Mutation_p.L897V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	897	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCCAATAATTTAGCATTTAA	0.383																																																	0													65.0	57.0	59.0					7																	141750548		1814	4080	5894	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2689T>G	7.37:g.141750548T>G	ENSP00000447378:p.Leu897Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L897V	ENST00000549489.2	37	c.2689	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079002	0.55753	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.90385	-2.66	5.81	-0.35	0.12606	.	0.000000	0.39687	N	0.001291	D	0.89622	0.6768	M	0.62088	1.915	0.09310	N	1	D	0.53462	0.96	P	0.50231	0.635	T	0.83261	-0.0048	10	0.49607	T	0.09	.	10.1929	0.43037	0.0:0.4545:0.0:0.5455	.	897	O43451	MGA_HUMAN	V	897;897;774	ENSP00000447378:L897V	ENSP00000316431:L774V	L	+	1	2	MGAM	141397017	0.107000	0.21998	0.380000	0.26093	0.804000	0.45430	0.097000	0.15168	0.145000	0.18977	0.456000	0.33151	TTA	MGAM	-	NULL	ENSG00000257335		0.383	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0.00	63	0	T			141750548	+1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.109	G
PITPNB	23760	genome.wustl.edu	37	22	28316525	28316525	+	5'Flank	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr22:28316525G>T	ENST00000335272.5	-	0	0				PITPNB_ENST00000320996.10_5'Flank|TTC28-AS1_ENST00000430525.1_RNA|TTC28-AS1_ENST00000454996.1_RNA|TTC28-AS1_ENST00000417381.1_RNA|TTC28-AS1_ENST00000437713.1_RNA|TTC28-AS1_ENST00000428818.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|MIR3199-2_ENST00000582434.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000425112.1_RNA|PITPNB_ENST00000455418.3_5'Flank|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000419253.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000452612.1_RNA	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta						glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						TGACTCCCAGGGACTGCCTTA	0.443																																																	0																																										SO:0001631	upstream_gene_variant	0			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976		22.37:g.28316525G>T	Exception_encountered		B3KYB8|B7Z7Q0|Q8N5W1	RNA	SNP	-	NULL	ENST00000335272.5	37	NULL	CCDS13842.1	22																																																																																			MIR3199-2	-	-	ENSG00000264073		0.443	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIR3199-2	HGNC	protein_coding	OTTHUMT00000320740.1	-	0.00	47	0	G			28316525	-1	tier1	-	no_errors	ENST00000582434	ensembl	human	known	74_37	rna	60.53	15	23	SNP	0.003	T
TRIM13	10206	genome.wustl.edu	37	13	50570605	50570605	+	5'Flank	DEL	A	A	-	rs201796222		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:50570605delA	ENST00000378182.3	+	0	0				TRIM13_ENST00000356017.4_5'Flank|TRIM13_ENST00000420995.2_5'Flank|MIR3613_ENST00000579844.1_RNA|TRIM13_ENST00000457662.2_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TGCAACGAACAAAAAAAAAAG	0.512																																																	0																																										SO:0001631	upstream_gene_variant	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926		13.37:g.50570605delA	Exception_encountered		B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	RNA	DEL	-	NULL	ENST00000378182.3	37	NULL	CCDS9423.1	13																																																																																			MIR3613	-	-	ENSG00000264864		0.512	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	MIR3613	HGNC	protein_coding	OTTHUMT00000354875.1		0.00	37	0	A	NM_001007278		50570605	-1	tier1		no_errors	ENST00000579844	ensembl	human	known	74_37	rna	10.00	18	2	DEL	1.000	-
MIR920	100126320	genome.wustl.edu	37	12	24365393	24365393	+	RNA	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:24365393A>G	ENST00000401373.1	+	0	39					NR_030625.1				microRNA 920																		GTAGGAGCTAAGACACACTCC	0.458																																																	0													124.0	121.0	122.0					12																	24365393		1568	3582	5150			0					12p12.1	2011-09-12		2008-12-18	ENSG00000216192	ENSG00000216192		"""ncRNAs / Micro RNAs"""	33670	non-coding RNA	RNA, micro				MIRN920			Standard	NR_030625		Approved	hsa-mir-920	uc021qwc.1				12.37:g.24365393A>G				RNA	SNP	-	NULL	ENST00000401373.1	37	NULL		12																																																																																			MIR920	-	-	ENSG00000216192		0.458	MIR920-201	KNOWN	basic	miRNA	MIR920	HGNC	miRNA		-	0.00	19	0	A	NR_030625		24365393	+1	tier1	-	no_errors	ENST00000401373	ensembl	human	known	74_37	rna	39.13	14	9	SNP	0.012	G
MLLT10	8028	genome.wustl.edu	37	10	21959772	21959773	+	Intron	INS	-	-	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:21959772_21959773insT	ENST00000307729.7	+	10	1229				MLLT10_ENST00000377059.3_Intron|MLLT10_ENST00000446906.2_Intron|MLLT10_ENST00000377072.3_Intron			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTTTAGTAAGATTACTTTAAAG	0.228			T	"""MLL, PICALM, CDK6"""	AL																																			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0																																										SO:0001627	intron_variant	0			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1051+139->T	10.37:g.21959774_21959774dupT			B1ANA8|Q5JT37|Q5VX90|Q66K63	RNA	INS	-	NULL	ENST00000307729.7	37	NULL	CCDS55708.1	10																																																																																			MLLT10	-	-	ENSG00000078403		0.228	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1		0.00	8	0	-			21959773	+1	tier1		no_errors	ENST00000468309	ensembl	human	known	74_37	rna	75.00	1	3	INS	0.000:0.002	T
MLLT10	8028	genome.wustl.edu	37	10	22021940	22021940	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:22021940G>T	ENST00000307729.7	+	18	2509	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	MLLT10_ENST00000377059.3_Missense_Mutation_p.Q777H|MLLT10_ENST00000446906.2_Missense_Mutation_p.Q777H|MLLT10_ENST00000377072.3_Missense_Mutation_p.Q793H			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	777	Leucine-zipper.|Transactivation domain; required for DOT1L-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q793H(1)|p.Q777H(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGAATGCACAGCTTTCAGTGC	0.363			T	"""MLL, PICALM, CDK6"""	AL																																			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	2	Substitution - Missense(2)	lung(2)											104.0	100.0	101.0					10																	22021940		2203	4300	6503	SO:0001583	missense	0			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2331G>T	10.37:g.22021940G>T	ENSP00000307411:p.Gln777His		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q777H	ENST00000307729.7	37	c.2331	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031841	0.75504	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	6.01	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.998;0.996	D;D;D;D	0.80764	0.994;0.986;0.928;0.986	T	0.02837	-1.1104	10	0.87932	D	0	.	11.0348	0.47793	0.1981:0.0:0.8019:0.0	.	472;777;777;793	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	H	793;777;777;612;777	ENSP00000366272:Q793H;ENSP00000401406:Q777H;ENSP00000307411:Q777H;ENSP00000366258:Q777H	ENSP00000307411:Q777H	Q	+	3	2	MLLT10	22061946	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.579000	0.53900	0.457000	0.26962	0.655000	0.94253	CAG	MLLT10	-	NULL	ENSG00000078403		0.363	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1		0.00	65	0	G			22021940	+1			no_errors	ENST00000307729	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
MMP8	4317	genome.wustl.edu	37	11	102587084	102587084	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:102587084G>T	ENST00000236826.3	-	6	949	c.851C>A	c.(850-852)aCa>aAa	p.T284K		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	284					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AGCATCAAATGTCAAACTGGG	0.368																																																	0													128.0	134.0	132.0					11																	102587084		2203	4299	6502	SO:0001583	missense	0			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.851C>A	11.37:g.102587084G>T	ENSP00000236826:p.Thr284Lys		Q45F99	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.T284K	ENST00000236826.3	37	c.851	CCDS8320.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.30|10.30	1.313391|1.313391	0.23908|0.23908	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000438475|ENST00000236826;ENST00000544383;ENST00000534942	.|T	.|0.13307	.|2.6	5.27|5.27	3.36|3.36	0.38483|0.38483	.|Hemopexin/matrixin (2);	.|0.454838	.|0.20564	.|N	.|0.089856	T|T	0.12263|0.12263	0.0298|0.0298	L|L	0.48935|0.48935	1.535|1.535	0.09310|0.09310	N|N	1|1	.|B;P;B	.|0.42961	.|0.275;0.795;0.026	.|B;B;B	.|0.37780	.|0.094;0.258;0.031	T|T	0.10086|0.10086	-1.0645|-1.0645	5|10	.|0.62326	.|D	.|0.03	.|.	9.319|9.319	0.37952|0.37952	0.0818:0.152:0.7662:0.0|0.0818:0.152:0.7662:0.0	.|.	.|284;219;284	.|A8K9E4;F5GXB5;P22894	.|.;.;MMP8_HUMAN	E|K	259|284;261;219	.|ENSP00000236826:T284K	.|ENSP00000236826:T284K	D|T	-|-	3|2	2|0	MMP8|MMP8	102092294|102092294	0.059000|0.059000	0.20769|0.20769	0.106000|0.106000	0.21319|0.21319	0.702000|0.702000	0.40608|0.40608	1.799000|1.799000	0.38824|0.38824	0.568000|0.568000	0.29311|0.29311	0.563000|0.563000	0.77884|0.77884	GAC|ACA	MMP8	-	superfamily_Hemopexin-like_dom,pirsf_Pept_M10A_Metazoans	ENSG00000118113		0.368	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP8	HGNC	protein_coding	OTTHUMT00000395223.1	-	0.00	125	0	G	NM_002424		102587084	-1	tier1	-	no_errors	ENST00000236826	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.040	T
MMS19	64210	genome.wustl.edu	37	10	99236630	99236630	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:99236630C>T	ENST00000438925.2	-	7	919	c.584G>A	c.(583-585)cGc>cAc	p.R195H	MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.R195H|MMS19_ENST00000327238.10_Missense_Mutation_p.R195H	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	195					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ATGGACGATGCGGAAGGCCAC	0.498								Direct reversal of damage																																									0													111.0	95.0	100.0					10																	99236630		2203	4300	6503	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.584G>A	10.37:g.99236630C>T	ENSP00000412698:p.Arg195His		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.R195H	ENST00000438925.2	37	c.584	CCDS7464.1	10	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662736	0.29515	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000437002;ENST00000422685	T;T;T;T;T	0.66099	2.29;2.29;-0.19;2.29;3.54	5.55	0.453	0.16639	Armadillo-like helical (1);Armadillo-type fold (1);	0.614662	0.18262	N	0.146599	T	0.29914	0.0748	N	0.03608	-0.345	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.02743	-1.1116	10	0.20046	T	0.44	.	4.7562	0.13085	0.0:0.3306:0.1628:0.5066	.	195;195	Q96T76-5;Q96T76	.;MMS19_HUMAN	H	195;195;195;174;195;234	ENSP00000412698:R195H;ENSP00000359818:R195H;ENSP00000320059:R195H;ENSP00000409425:R195H;ENSP00000391765:R234H	ENSP00000320059:R195H	R	-	2	0	MMS19	99226620	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	1.637000	0.37155	0.039000	0.15632	-0.145000	0.13849	CGC	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.498	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0.00	64	0	C			99236630	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.955	T
MS4A10	341116	genome.wustl.edu	37	11	60565961	60565961	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:60565961C>T	ENST00000308287.1	+	7	792	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	232						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TGATTCAAGGCGACGCACAAC	0.547																																																	0													115.0	109.0	111.0					11																	60565961		2203	4299	6502	SO:0001819	synonymous_variant	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.696C>T	11.37:g.60565961C>T			B2RP45|Q96PG3	Silent	SNP	pfam_CD20-like	p.G232	ENST00000308287.1	37	c.696	CCDS7992.1	11																																																																																			MS4A10	-	NULL	ENSG00000172689		0.547	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1	-	0.00	60	0	C	NM_206893		60565961	+1	tier1	-	no_errors	ENST00000308287	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.000	T
MSX1	4487	genome.wustl.edu	37	4	4864564	4864564	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:4864564C>T	ENST00000382723.4	+	2	840	c.606C>T	c.(604-606)cgC>cgT	p.R202R	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	202			R -> P (in STHAG1; severely impairs DNA- binding). {ECO:0000269|PubMed:8696335}.		activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCGCCGAGCGCGCGGAGTTCT	0.627																																																	0													41.0	45.0	44.0					4																	4864564		2203	4300	6503	SO:0001819	synonymous_variant	0			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.606C>T	4.37:g.4864564C>T			A0SZU5|A8K3M1|Q96NY4	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R202	ENST00000382723.4	37	c.606	CCDS3378.2	4																																																																																			MSX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000163132		0.627	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	-	0.00	65	0	C			4864564	+1	tier1	-	no_errors	ENST00000382723	ensembl	human	known	74_37	silent	45.16	17	14	SNP	1.000	T
MT-ND4	4538	genome.wustl.edu	37	M	8317	8317	+	5'Flank	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrM:8317T>A	ENST00000361381.2	+	0	0				MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TAACTTAGCATTAACCTTTTA	0.413																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905			M.37:g.8317T>A	Exception_encountered		Q6RL39|Q6RQN9|Q8HNR8	RNA	SNP	-	NULL	ENST00000361381.2	37	NULL		MT																																																																																			MT-TK	-	-	ENSG00000210156		0.413	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	MT-TK	HGNC	protein_coding		-	0.00	70	0	T	YP_003024035		8317	+1	tier1	-	no_errors	ENST00000387421	ensembl	human	known	74_37	rna	15.38	11	2	SNP	NULL	A
MTX2	10651	genome.wustl.edu	37	2	177194108	177194108	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:177194108A>G	ENST00000249442.6	+	8	708	c.497A>G	c.(496-498)aAa>aGa	p.K166R	MTX2_ENST00000392529.2_Missense_Mutation_p.K156R|MTX2_ENST00000443241.1_Missense_Mutation_p.K110R	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	166					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGGGAAGTCAAACGTAAGATG	0.388																																																	0													108.0	107.0	107.0					2																	177194108		2203	4300	6503	SO:0001583	missense	0			AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.497A>G	2.37:g.177194108A>G	ENSP00000249442:p.Lys166Arg		A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Missense_Mutation	SNP	pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.K166R	ENST00000249442.6	37	c.497	CCDS2272.1	2	.	.	.	.	.	.	.	.	.	.	A	4.379	0.069860	0.08436	.	.	ENSG00000128654	ENST00000249442;ENST00000392529;ENST00000443241;ENST00000452865	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.05	3.89	0.44902	Glutathione S-transferase, C-terminal-like (1);	0.281581	0.38058	N	0.001824	T	0.13457	0.0326	N	0.01219	-0.95	0.33061	D	0.534137	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16217	-1.0410	10	0.11485	T	0.65	-7.0566	7.2687	0.26244	0.773:0.0:0.227:0.0	.	166;156	O75431;Q8IZ68	MTX2_HUMAN;.	R	166;156;110;143	ENSP00000249442:K166R;ENSP00000376314:K156R;ENSP00000414176:K110R;ENSP00000398757:K143R	ENSP00000249442:K166R	K	+	2	0	MTX2	176902354	1.000000	0.71417	0.901000	0.35422	0.587000	0.36485	4.478000	0.60230	0.757000	0.33036	0.455000	0.32223	AAA	MTX2	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000128654		0.388	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTX2	HGNC	protein_coding	OTTHUMT00000255695.4	-	0.00	57	0	A	NM_006554		177194108	+1	tier1	-	no_errors	ENST00000249442	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.940	G
MYH6	4624	genome.wustl.edu	37	14	23872944	23872944	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:23872944G>T	ENST00000356287.3	-	8	808	c.779C>A	c.(778-780)gCt>gAt	p.A260D	MYH6_ENST00000405093.3_Missense_Mutation_p.A260D			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	260	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTCTGCAGAAGCCAGCTTTCC	0.577																																																	0													53.0	47.0	49.0					14																	23872944		2203	4300	6503	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.779C>A	14.37:g.23872944G>T	ENSP00000348634:p.Ala260Asp		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A260D	ENST00000356287.3	37	c.779	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	18.89	3.719048	0.68844	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87887	-2.31;-2.31	3.45	3.45	0.39498	Myosin head, motor domain (2);	.	.	.	.	D	0.93566	0.7946	M	0.83774	2.66	0.53005	D	0.999962	B;B	0.23128	0.08;0.08	P;P	0.51833	0.681;0.681	D	0.94155	0.7409	9	0.87932	D	0	.	15.0426	0.71803	0.0:0.0:1.0:0.0	.	260;260	D9YZU2;P13533	.;MYH6_HUMAN	D	260	ENSP00000386041:A260D;ENSP00000348634:A260D	ENSP00000348634:A260D	A	-	2	0	MYH6	22942784	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.048000	0.93830	1.935000	0.56089	0.462000	0.41574	GCT	MYH6	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197616		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0.00	56	0	G			23872944	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
MYL7	58498	genome.wustl.edu	37	7	44178520	44178520	+	Nonstop_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:44178520T>C	ENST00000223364.3	-	7	554	c.528A>G	c.(526-528)tgA>tgG	p.*176W	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Nonstop_Mutation_p.*149W	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	0						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GCCCTGCCCCTCATTCCTCTT	0.557																																																	0													119.0	83.0	95.0					7																	44178520		2203	4300	6503	SO:0001578	stop_lost	0			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.528A>G	7.37:g.44178520T>C	ENSP00000223364:p.*176Cysext*?		B2R4L3	Nonstop_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.*176W	ENST00000223364.3	37	c.528	CCDS5478.1	7	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921167	0.33908	.	.	ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314	.	.	.	5.3	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7137	0.28692	0.0:0.1924:0.0:0.8076	.	.	.	.	W	136;176;149;198	.	.	X	-	3	0	MYL7	44145045	0.058000	0.20735	0.255000	0.24374	0.661000	0.39034	1.267000	0.33050	0.267000	0.21916	0.533000	0.62120	TGA	MYL7	-	NULL	ENSG00000106631		0.557	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL7	HGNC	protein_coding	OTTHUMT00000059446.4		0.00	52	0	T	NM_021223		44178520	-1			no_errors	ENST00000223364	ensembl	human	known	74_37	nonstop	8.51	43	4	SNP	0.582	C
MYO16	23026	genome.wustl.edu	37	13	109672130	109672130	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:109672130delA	ENST00000357550.2	+	22	2642	c.2601delA	c.(2599-2601)ccafs	p.P867fs	MYO16_ENST00000251041.5_Frame_Shift_Del_p.P867fs|MYO16_ENST00000457511.2_Frame_Shift_Del_p.P379fs|MYO16_ENST00000356711.2_Frame_Shift_Del_p.P867fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAAATTTTCCAAAAAAACTAC	0.423																																																	0													79.0	76.0	77.0					13																	109672130		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2601delA	13.37:g.109672130delA	ENSP00000350160:p.Pro867fs			Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K869fs	ENST00000357550.2	37	c.2601	CCDS32008.1	13																																																																																			MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000041515		0.423	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1		0.00	73	0	A	NM_015011		109672130	+1	tier1		no_errors	ENST00000356711	ensembl	human	known	74_37	frame_shift_del	28.95	27	11	DEL	0.992	-
MYOM2	9172	genome.wustl.edu	37	8	2065706	2065706	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:2065706G>A	ENST00000262113.4	+	28	3559	c.3418G>A	c.(3418-3420)Gtc>Atc	p.V1140I	MYOM2_ENST00000523438.1_Missense_Mutation_p.V565I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1140	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCACTGGGATGTCACGGAAGA	0.378																																																	0													88.0	85.0	86.0					8																	2065706		2203	4300	6503	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3418G>A	8.37:g.2065706G>A	ENSP00000262113:p.Val1140Ile		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,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.V1140I	ENST00000262113.4	37	c.3418	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	9.385	1.073957	0.20147	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.14391	2.51;2.51	5.03	3.24	0.37175	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.187966	0.46758	N	0.000279	T	0.12603	0.0306	L	0.58510	1.815	0.38871	D	0.956704	P	0.38711	0.643	B	0.32624	0.149	T	0.06023	-1.0850	10	0.52906	T	0.07	.	8.7444	0.34578	0.2312:0.0:0.7688:0.0	.	1140	P54296	MYOM2_HUMAN	I	1140;565	ENSP00000262113:V1140I;ENSP00000428396:V565I	ENSP00000262113:V1140I	V	+	1	0	MYOM2	2053113	1.000000	0.71417	0.026000	0.17262	0.007000	0.05969	5.305000	0.65750	0.535000	0.28714	-0.768000	0.03414	GTC	MYOM2	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000036448		0.378	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0.00	64	0	G	NM_003970		2065706	+1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	missense	36.07	39	22	SNP	0.915	A
MYOM3	127294	genome.wustl.edu	37	1	24411017	24411017	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:24411017G>A	ENST00000374434.3	-	16	2073	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	MYOM3_ENST00000330966.7_Silent_p.S638S|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Silent_p.S637S|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	637	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCACCTTCCGGGAGTAGATGT	0.517																																																	0													184.0	183.0	184.0					1																	24411017		1921	4146	6067	SO:0001819	synonymous_variant	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1911C>T	1.37:g.24411017G>A			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,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.S638	ENST00000374434.3	37	c.1914	CCDS41281.1	1																																																																																			MYOM3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142661		0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	-	0.00	63	0	G	NM_152372		24411017	-1	tier1	-	no_errors	ENST00000330966	ensembl	human	known	74_37	silent	20.75	42	11	SNP	1.000	A
MYRF	745	genome.wustl.edu	37	11	61547319	61547319	+	Silent	SNP	G	G	T	rs371064279		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:61547319G>T	ENST00000278836.5	+	17	2349	c.2253G>T	c.(2251-2253)tcG>tcT	p.S751S	MYRF_ENST00000265460.5_Silent_p.S742S|MYRF_ENST00000389602.4_Silent_p.S142S|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Silent_p.S397S	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	751					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTCAGTCATCGTCCGTGGTTC	0.617																																																	0													81.0	75.0	77.0					11																	61547319		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2253G>T	11.37:g.61547319G>T			O43582|Q9P1Q6	Silent	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.S751	ENST00000278836.5	37	c.2253	CCDS44622.1	11																																																																																			MYRF	-	NULL	ENSG00000124920		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2		0.00	53	0	G	NM_013279		61547319	+1			no_errors	ENST00000278836	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.000	T
NBEA	26960	genome.wustl.edu	37	13	36180665	36180665	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:36180665C>A	ENST00000400445.3	+	48	7933	c.7399C>A	c.(7399-7401)Ctt>Att	p.L2467I	NBEA_ENST00000540320.1_Missense_Mutation_p.L2467I|NBEA_ENST00000310336.4_Missense_Mutation_p.L2467I|NBEA_ENST00000379922.3_Missense_Mutation_p.L24I|NBEA_ENST00000537702.1_Missense_Mutation_p.L260I|NBEA_ENST00000379939.2_Missense_Mutation_p.L2464I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2467	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				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)		TGATGTTGATCTTCCCCCTTG	0.403																																																	0													122.0	117.0	119.0					13																	36180665		1885	4116	6001	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.7399C>A	13.37:g.36180665C>A	ENSP00000383295:p.Leu2467Ile		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.L2467I	ENST00000400445.3	37	c.7399	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476245	0.84640	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000543274;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.85	5.85	0.93711	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.98	D;D;D	0.97110	0.997;1.0;0.993	D	0.86897	0.2052	10	0.66056	D	0.02	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	2467;24;2464	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	I	2467;2467;2464;2467;1094;24;260;260;24	ENSP00000440951:L2467I;ENSP00000383295:L2467I;ENSP00000369271:L2464I;ENSP00000308534:L2467I;ENSP00000440233:L260I;ENSP00000369254:L24I	ENSP00000308534:L2467I	L	+	1	0	NBEA	35078665	0.994000	0.37717	0.935000	0.37517	0.991000	0.79684	3.159000	0.50731	2.767000	0.95098	0.563000	0.77884	CTT	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000172915		0.403	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0.00	65	0	C	NM_015678		36180665	+1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	71.43	12	30	SNP	0.997	A
NBEAL1	65065	genome.wustl.edu	37	2	204039885	204039885	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:204039885G>T	ENST00000449802.1	+	41	6585	c.6252G>T	c.(6250-6252)gaG>gaT	p.E2084D		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2084	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAATTTTGAGGATCCTATGG	0.353																																																	0													73.0	73.0	73.0					2																	204039885		1804	4064	5868	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6252G>T	2.37:g.204039885G>T	ENSP00000399903:p.Glu2084Asp		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2084D	ENST00000449802.1	37	c.6252	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744993	0.69418	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.80566	-1.39;-1.39	5.92	4.11	0.48088	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	L	0.51422	1.61	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80395	-0.1400	10	0.28530	T	0.3	.	8.9828	0.35974	0.2292:0.0:0.7708:0.0	.	2084;2073	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	D	2084;2084;99	ENSP00000399903:E2084D;ENSP00000388466:E99D	ENSP00000344985:E2084D	E	+	3	2	NBEAL1	203748130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.259000	0.32956	0.806000	0.34183	0.650000	0.86243	GAG	NBEAL1	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000144426		0.353	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	-	0.00	93	0	G			204039885	+1	tier1	-	no_errors	ENST00000449802	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
NBPF14	25832	genome.wustl.edu	37	1	148009510	148009510	+	Missense_Mutation	SNP	G	G	T	rs587690666	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:148009510G>T	ENST00000369219.1	-	16	1813	c.1797C>A	c.(1795-1797)agC>agA	p.S599R				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	599	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S599S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					ACAGCTCCCCGCTGAGCCTGG	0.463																																																	1	Substitution - coding silent(1)	stomach(1)											110.0	201.0	177.0					1																	148009510		1440	4051	5491	SO:0001583	missense	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1797C>A	1.37:g.148009510G>T	ENSP00000358221:p.Ser599Arg		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.S599R	ENST00000369219.1	37	c.1797		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.04|10.04	1.240608|1.240608	0.22711|0.22711	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000434489	.|T	.|0.11495	.|2.77	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.06781|0.06781	0.0173|0.0173	L|L	0.61036|0.61036	1.89|1.89	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.28618|0.28618	-1.0038|-1.0038	2|4	.|0.49607	.|T	.|0.09	.|.	.|.	.|.	.|.	.|.	.|599	.|Q5TI25	.|NBPFE_HUMAN	E|R	605|599;189	.|ENSP00000358221:S599R	.|ENSP00000358221:S599R	A|S	-|-	2|3	0|2	NBPF14|NBPF14	146476134|146476134	0.993000|0.993000	0.37304|0.37304	.|.	.|.	.|.	.|.	0.748000|0.748000	0.26305|0.26305	.|.	.|.	.|.	.|.	GCG|AGC	NBPF14	-	pfam_NBPF_dom	ENSG00000122497		0.463	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding		-	0.00	64	0	G	NM_015383		148009510	-1	tier1	-	no_errors	ENST00000369219	ensembl	human	known	74_37	missense	15.32	87	17	SNP	0.000	T
NCAPD2	9918	genome.wustl.edu	37	12	6620372	6620372	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:6620372A>T	ENST00000315579.5	+	6	1340	c.541A>T	c.(541-543)Atc>Ttc	p.I181F	SCARNA10_ENST00000459255.1_RNA|NCAPD2_ENST00000545962.1_Missense_Mutation_p.I136F	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	181	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCAGTTGGACATCCGTCACCT	0.473																																																	0													108.0	107.0	107.0					12																	6620372		2203	4300	6503	SO:0001583	missense	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.541A>T	12.37:g.6620372A>T	ENSP00000325017:p.Ile181Phe		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.I181F	ENST00000315579.5	37	c.541	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	A	20.2	3.945746	0.73672	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.46063	0.88;0.88	5.68	4.55	0.56014	Condensin complex, subunit 1, N-terminal (1);	0.094660	0.64402	D	0.000001	T	0.55940	0.1952	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.67145	0.995;0.996	P;D	0.64144	0.872;0.922	T	0.57365	-0.7824	9	.	.	.	-18.1428	7.4588	0.27283	0.733:0.1884:0.0786:0.0	.	136;181	F5GZJ1;Q15021	.;CND1_HUMAN	F	181;136	ENSP00000325017:I181F;ENSP00000444417:I136F	.	I	+	1	0	NCAPD2	6490633	1.000000	0.71417	0.998000	0.56505	0.612000	0.37316	4.269000	0.58890	2.169000	0.68431	0.528000	0.53228	ATC	NCAPD2	-	pirsf_Condensin_cplx_su1	ENSG00000010292		0.473	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1		0.00	70	0	A	NM_014865		6620372	+1			no_errors	ENST00000315579	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T
NDRG2	57447	genome.wustl.edu	37	14	21488086	21488086	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:21488086delA	ENST00000556147.1	-	9	1545	c.605delT	c.(604-606)ttcfs	p.F202fs	NDRG2_ENST00000298687.5_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000397851.2_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000350792.3_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000360463.3_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000554143.1_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000397858.1_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000397853.3_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000397855.3_Frame_Shift_Del_p.F159fs|NDRG2_ENST00000397856.3_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000397847.2_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000298684.5_Frame_Shift_Del_p.F159fs|NDRG2_ENST00000553503.1_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000555158.1_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000554104.1_Frame_Shift_Del_p.F115fs|NDRG2_ENST00000397844.2_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000403829.3_Frame_Shift_Del_p.F198fs			Q9UN36	NDRG2_HUMAN	NDRG family member 2	202					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TACCTGGCTGAAAAGATGTCC	0.522																																																	0													82.0	78.0	79.0					14																	21488086		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.605delT	14.37:g.21488086delA	ENSP00000451712:p.Phe202fs		B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Frame_Shift_Del	DEL	pfam_Ndr	p.F202fs	ENST00000556147.1	37	c.605	CCDS9565.1	14																																																																																			NDRG2	-	pfam_Ndr	ENSG00000165795		0.522	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NDRG2	HGNC	protein_coding	OTTHUMT00000411717.1		0.00	26	0	A			21488086	-1	tier1		no_errors	ENST00000298687	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	1.000	-
NDST1	3340	genome.wustl.edu	37	5	149919713	149919713	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:149919713C>G	ENST00000261797.6	+	8	2138	c.1636C>G	c.(1636-1638)Ctg>Gtg	p.L546V	NDST1_ENST00000523767.1_Missense_Mutation_p.L546V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	546	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAAGCACCTGGTGCGCTT	0.597																																																	0													102.0	87.0	92.0					5																	149919713		2203	4300	6503	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1636C>G	5.37:g.149919713C>G	ENSP00000261797:p.Leu546Val		Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L546V	ENST00000261797.6	37	c.1636	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924717	0.52653	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.46063	0.88;1.22	5.37	3.54	0.40534	.	0.065354	0.64402	D	0.000005	T	0.48370	0.1496	L	0.42744	1.35	0.53005	D	0.999969	D;D	0.89917	1.0;0.987	D;P	0.87578	0.998;0.795	T	0.41858	-0.9485	10	0.11182	T	0.66	.	8.7336	0.34514	0.1316:0.7417:0.0:0.1267	.	546;546	E7EVJ3;P52848	.;NDST1_HUMAN	V	546	ENSP00000428604:L546V;ENSP00000261797:L546V	ENSP00000261797:L546V	L	+	1	2	NDST1	149899906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.899000	0.63245	1.361000	0.45981	0.563000	0.77884	CTG	NDST1	-	NULL	ENSG00000070614		0.597	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0.00	37	0	C	NM_001543		149919713	+1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	missense	53.33	14	16	SNP	1.000	G
NDUFS7	374291	genome.wustl.edu	37	19	1393355	1393355	+	Intron	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:1393355G>A	ENST00000233627.9	+	7	840				NDUFS7_ENST00000414651.2_Silent_p.T220T|NDUFS7_ENST00000540530.1_Intron|AC005329.7_ENST00000501448.1_RNA|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000313408.7_Silent_p.T190T|NDUFS7_ENST00000546283.1_Silent_p.T190T|NDUFS7_ENST00000539480.1_Intron|AC005329.7_ENST00000585596.1_RNA	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	Doxorubicin(DB00997)	CACCGCCCACGAGGGAGCTGG	0.687																																																	0													42.0	26.0	32.0					19																	1393355		2171	4260	6431	SO:0001627	intron_variant	0			AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.544+26G>A	19.37:g.1393355G>A			B3KRI2|Q2T9H7|Q9BV17	Silent	SNP	pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su	p.T190	ENST00000233627.9	37	c.570	CCDS12063.1	19																																																																																			NDUFS7	-	NULL	ENSG00000115286		0.687	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS7	HGNC	protein_coding	OTTHUMT00000397984.1	-	0.00	41	0	G	NM_024407		1393355	+1	tier1	-	no_errors	ENST00000313408	ensembl	human	known	74_37	silent	68.42	12	26	SNP	0.002	A
NELFCD	51497	genome.wustl.edu	37	20	57564950	57564950	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:57564950C>T	ENST00000344018.3	+	7	749	c.722C>T	c.(721-723)gCc>gTc	p.A241V	NELFCD_ENST00000602795.1_Missense_Mutation_p.A250V			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	241					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											TACCTGTTTGCCCAGGCCATG	0.627																																																	0													69.0	57.0	61.0					20																	57564950		2203	4300	6503	SO:0001583	missense	0			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.722C>T	20.37:g.57564950C>T	ENSP00000342300:p.Ala241Val		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.A250V	ENST00000344018.3	37	c.749		20	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887222	0.91814	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	L	0.43923	1.385	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.983	T	0.75033	-0.3460	9	0.66056	D	0.02	-30.3248	18.0843	0.89453	0.0:1.0:0.0:0.0	.	250;241	E1P5H4;Q8IXH7	.;NELFD_HUMAN	V	241	.	ENSP00000342300:A241V	A	+	2	0	TH1L	56998345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.396000	0.79891	2.717000	0.92951	0.655000	0.94253	GCC	NELFCD	-	pfam_TH1	ENSG00000101158		0.627	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	NELFCD	HGNC	protein_coding		-	0.00	38	0	C	NM_198976		57564950	+1	tier1	-	no_errors	ENST00000602795	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
NFATC1	4772	genome.wustl.edu	37	18	77246370	77246370	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:77246370G>A	ENST00000427363.2	+	9	2215	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Missense_Mutation_p.D267N|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.D726N|NFATC1_ENST00000545796.1_Missense_Mutation_p.D267N|NFATC1_ENST00000253506.5_Missense_Mutation_p.D739N|NFATC1_ENST00000318065.5_Missense_Mutation_p.D726N			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	739	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GATGCCACCCGACCCCAGCTC	0.642																																					GBM(151;1210 2593 28719 45011)												0													110.0	126.0	120.0					18																	77246370		2203	4300	6503	SO:0001583	missense	0			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2215G>A	18.37:g.77246370G>A	ENSP00000389377:p.Asp739Asn		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.D739N	ENST00000427363.2	37	c.2215		18	.	.	.	.	.	.	.	.	.	.	g	14.56	2.571014	0.45798	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.66	4.66	0.58398	.	0.108394	0.64402	D	0.000009	T	0.19967	0.0480	L	0.52011	1.625	0.58432	D	0.999998	P;B	0.35493	0.505;0.088	B;B	0.25405	0.06;0.008	T	0.04509	-1.0946	10	0.37606	T	0.19	-32.7777	17.9361	0.89012	0.0:0.0:1.0:0.0	.	739;726	O95644;B5B2M5	NFAC1_HUMAN;.	N	739;739;267;726;267;726;703	ENSP00000253506:D739N;ENSP00000380892:D267N;ENSP00000327850:D726N;ENSP00000439992:D267N	ENSP00000253506:D739N	D	+	1	0	NFATC1	75347358	1.000000	0.71417	0.152000	0.22495	0.005000	0.04900	6.529000	0.73812	2.303000	0.77524	0.639000	0.83563	GAC	NFATC1	-	NULL	ENSG00000131196		0.642	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	-	0.00	51	0	G	NM_172390		77246370	+1	tier1	-	no_errors	ENST00000427363	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	A
NKX2-2	4821	genome.wustl.edu	37	20	21492909	21492909	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:21492909G>A	ENST00000377142.4	-	2	830	c.474C>T	c.(472-474)cgC>cgT	p.R158R	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	158					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAGGTGTTCGCGCTCGGGCG	0.647																																																	0													30.0	32.0	32.0					20																	21492909		2202	4300	6502	SO:0001819	synonymous_variant	0			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.474C>T	20.37:g.21492909G>A				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R158	ENST00000377142.4	37	c.474	CCDS13145.1	20																																																																																			NKX2-2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000125820		0.647	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	-	0.00	134	0	G			21492909	-1	tier1	-	no_errors	ENST00000377142	ensembl	human	known	74_37	silent	48.03	79	73	SNP	1.000	A
NLRP11	204801	genome.wustl.edu	37	19	56320173	56320173	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:56320173G>A	ENST00000589093.1	-	3	1896	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	NLRP11_ENST00000589824.2_Silent_p.I601I|NLRP11_ENST00000443188.1_Silent_p.I601I|NLRP11_ENST00000360133.3_Silent_p.I601I|NLRP11_ENST00000592953.1_Silent_p.I502I			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	601							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGTTTTGAAAGATGCGCTGAA	0.398																																																	0													125.0	118.0	120.0					19																	56320173		2203	4300	6503	SO:0001819	synonymous_variant	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1803C>T	19.37:g.56320173G>A			C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.I601	ENST00000589093.1	37	c.1803	CCDS12935.1	19																																																																																			NLRP11	-	NULL	ENSG00000179873		0.398	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	-	0.00	55	0	G	NM_145007		56320173	-1	tier1	-	no_errors	ENST00000443188	ensembl	human	known	74_37	silent	27.50	57	22	SNP	0.016	A
NLRP8	126205	genome.wustl.edu	37	19	56466632	56466632	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:56466632G>T	ENST00000291971.3	+	3	1279	c.1208G>T	c.(1207-1209)tGc>tTc	p.C403F	NLRP8_ENST00000590542.1_Missense_Mutation_p.C403F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.C403Y(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGATGGTCTGCTCTGGTCTG	0.493																																																	1	Substitution - Missense(1)	central_nervous_system(1)											80.0	80.0	80.0					19																	56466632		2203	4300	6503	SO:0001583	missense	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1208G>T	19.37:g.56466632G>T	ENSP00000291971:p.Cys403Phe		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.C403F	ENST00000291971.3	37	c.1208	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513082	0.27123	.	.	ENSG00000179709	ENST00000291971	D	0.83755	-1.76	1.78	1.78	0.24846	.	.	.	.	.	D	0.90273	0.6958	M	0.86864	2.845	0.09310	N	1	D;D	0.89917	0.979;1.0	P;D	0.83275	0.671;0.996	T	0.78314	-0.2252	9	0.87932	D	0	.	7.0626	0.25133	0.0:0.0:1.0:0.0	.	403;403	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	403	ENSP00000291971:C403F	ENSP00000291971:C403F	C	+	2	0	NLRP8	61158444	0.778000	0.28640	0.022000	0.16811	0.082000	0.17680	2.713000	0.47194	1.311000	0.45024	0.514000	0.50259	TGC	NLRP8	-	NULL	ENSG00000179709		0.493	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	-	0.00	53	0	G	NM_176811		56466632	+1	tier1	-	no_errors	ENST00000291971	ensembl	human	known	74_37	missense	15.79	48	9	SNP	0.108	T
NOS1AP	9722	genome.wustl.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																																	0																																										SO:0001651	inframe_deletion	0			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.Q304in_frame_del	ENST00000361897.5	37	c.901_903	CCDS1237.1	1																																																																																			NOS1AP	-	NULL	ENSG00000198929		0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2		0.00	24	0	CAG	NM_014697		162326890	+1	tier1		no_errors	ENST00000361897	ensembl	human	known	74_37	in_frame_del	11.11	24	3	DEL	1.000:1.000:1.000	-
NRP1	8829	genome.wustl.edu	37	10	33471651	33471651	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:33471651G>A	ENST00000265371.4	-	17	2982	c.2457C>T	c.(2455-2457)aaC>aaT	p.N819N	NRP1_ENST00000374875.1_Silent_p.N631N|NRP1_ENST00000374867.2_Silent_p.N819N|NRP1_ENST00000395995.1_Intron			O14786	NRP1_HUMAN	neuropilin 1	819					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TAATTTCTGGGTTCTTTTTAT	0.313																																					Melanoma(104;886 1489 44640 45944 51153)												0													88.0	89.0	89.0					10																	33471651		2202	4300	6502	SO:0001819	synonymous_variant	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2457C>T	10.37:g.33471651G>A			B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.N819	ENST00000265371.4	37	c.2457	CCDS7177.1	10																																																																																			NRP1	-	pirsf_Neuropilin	ENSG00000099250		0.313	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	-	0.00	109	0	G			33471651	-1	tier1	-	no_errors	ENST00000265371	ensembl	human	known	74_37	silent	24.59	46	15	SNP	0.987	A
NRROS	375387	genome.wustl.edu	37	3	196388263	196388263	+	Silent	SNP	G	G	T	rs560844051	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:196388263G>T	ENST00000328557.4	+	3	1952	c.1749G>T	c.(1747-1749)tcG>tcT	p.S583S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	583					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S583S(1)									AGCAGCTCTCGAGAGGTCTGC	0.627																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											54.0	60.0	58.0					3																	196388263		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1749G>T	3.37:g.196388263G>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S583	ENST00000328557.4	37	c.1749	CCDS3319.1	3																																																																																			NRROS	-	NULL	ENSG00000174004		0.627	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRROS	HGNC	protein_coding	OTTHUMT00000340676.1		0.00	40	0	G	NM_198565		196388263	+1			no_errors	ENST00000328557	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.000	T
NSUN5	55695	genome.wustl.edu	37	7	72718984	72718984	+	Missense_Mutation	SNP	C	C	T	rs563841683		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:72718984C>T	ENST00000252594.6	-	5	626	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	NSUN5_ENST00000438747.2_Missense_Mutation_p.R204Q|NSUN5_ENST00000428206.1_Missense_Mutation_p.R166Q|NSUN5_ENST00000310326.8_Missense_Mutation_p.R204Q			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	204					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GTGTCCGGCCCGGTACAGTGG	0.567													.|||	1	0.000199681	0.0	0.0	5008	,	,		19672	0.001		0.0	False		,,,				2504	0.0																0													32.0	31.0	31.0					7																	72718984		2201	4278	6479	SO:0001583	missense	0			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.611G>A	7.37:g.72718984C>T	ENSP00000252594:p.Arg204Gln		B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.R204Q	ENST00000252594.6	37	c.611	CCDS5547.1	7	.	.	.	.	.	.	.	.	.	.	C	8.173	0.792037	0.16258	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	4.31	1.75	0.24633	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.499934	0.21928	N	0.067069	T	0.08268	0.0206	N	0.10916	0.065	0.32348	N	0.558885	B;B;B;B	0.12013	0.005;0.005;0.003;0.005	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.26087	-1.0113	10	0.17369	T	0.5	.	4.2819	0.10836	0.0:0.2436:0.3107:0.4457	.	204;166;204;204	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	Q	166;204;204;204	ENSP00000393081:R166Q;ENSP00000252594:R204Q;ENSP00000388464:R204Q;ENSP00000309126:R204Q	ENSP00000252594:R204Q	R	-	2	0	NSUN5	72356920	0.002000	0.14202	0.556000	0.28293	0.595000	0.36748	0.068000	0.14531	0.169000	0.19679	0.485000	0.47835	CGG	NSUN5	-	pfam_Fmu/NOL1/Nop2p,prints_RCMT	ENSG00000130305		0.567	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	-	0.00	70	0	C	NM_148956		72718984	-1	tier1	-	no_errors	ENST00000438747	ensembl	human	known	74_37	missense	20.27	59	15	SNP	0.721	T
OPCML	4978	genome.wustl.edu	37	11	132290049	132290049	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:132290049G>A	ENST00000331898.7	-	0	1654				OPCML_ENST00000524381.1_3'UTR|OPCML_ENST00000374778.4_3'UTR|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CTGTGATATGGAGAAGCAGGC	0.413																																																	0													57.0	54.0	55.0					11																	132290049		2201	4297	6498	SO:0001624	3_prime_UTR_variant	0			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.*38C>T	11.37:g.132290049G>A			B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	RNA	SNP	-	NULL	ENST00000331898.7	37	NULL	CCDS8492.1	11																																																																																			OPCML	-	-	ENSG00000183715		0.413	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	-	0.00	35	0	G	NM_001012393		132290049	-1	tier1	-	no_errors	ENST00000529038	ensembl	human	known	74_37	rna	41.67	14	10	SNP	1.000	A
OR14A2	388761	genome.wustl.edu	37	1	247887171	247887171	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:247887171A>C	ENST00000366485.1	-	1	174	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V	RP11-634B7.4_ENST00000449298.1_RNA|RP11-634B7.5_ENST00000426444.1_RNA			Q96R54	O14A2_HUMAN	olfactory receptor, family 14, subfamily A, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TTCAGGAAGAAGTACATGGGT	0.423																																																	0																																										SO:0001583	missense	0			AB065620		1q44	2013-01-16	2008-04-02	2008-04-02	ENSG00000241128	ENSG00000241128		"""GPCR / Class A : Olfactory receptors"""	15024	other	unknown			"""olfactory receptor, family 5, subfamily AX, member 1 pseudogene"", ""olfactory receptor, family 5, subfamily AX, member 1"""	OR5AX1P, OR5AX1			Standard	NG_002409		Approved			Q96R54	OTTHUMG00000040207	ENST00000366485.1:c.175T>G	1.37:g.247887171A>C	ENSP00000355441:p.Phe59Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F59V	ENST00000366485.1	37	c.175		1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.809392	0.50421	.	.	ENSG00000241128	ENST00000366485	T	0.00555	6.63	3.18	3.18	0.36537	.	0.000000	0.51477	U	0.000087	T	0.00845	0.0028	.	.	.	0.27337	N	0.956628	.	.	.	.	.	.	T	0.42207	-0.9465	7	0.87932	D	0	.	10.6965	0.45903	1.0:0.0:0.0:0.0	.	.	.	.	V	59	ENSP00000355441:F59V	ENSP00000355441:F59V	F	-	1	0	OR14A2	245953794	0.999000	0.42202	1.000000	0.80357	0.849000	0.48306	0.817000	0.27281	1.444000	0.47605	0.533000	0.62120	TTC	OR14A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000241128		0.423	OR14A2-001	KNOWN	basic|appris_principal	protein_coding	OR14A2	HGNC	protein_coding	OTTHUMT00000096864.1	-	0.00	48	0	A	NG_002409		247887171	-1	tier1	-	no_errors	ENST00000366485	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	C
OR11L1	391189	genome.wustl.edu	37	1	248004654	248004654	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:248004654G>T	ENST00000355784.2	-	1	600	c.545C>A	c.(544-546)cCg>cAg	p.P182Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	182						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATGAGTGGCGGGAGGTCGCA	0.502																																																	0													91.0	96.0	94.0					1																	248004654		2203	4300	6503	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.545C>A	1.37:g.248004654G>T	ENSP00000348033:p.Pro182Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P182Q	ENST00000355784.2	37	c.545	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	3.566	-0.088654	0.07097	.	.	ENSG00000197591	ENST00000355784	T	0.00211	8.54	4.27	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36268	U	0.002690	T	0.00241	0.0007	M	0.74647	2.275	0.19945	N	0.999945	B	0.23735	0.09	B	0.27262	0.078	T	0.31052	-0.9957	10	0.51188	T	0.08	.	8.7529	0.34629	0.0815:0.0:0.7688:0.1497	.	182	Q8NGX0	O11L1_HUMAN	Q	182	ENSP00000348033:P182Q	ENSP00000348033:P182Q	P	-	2	0	OR11L1	246071277	0.000000	0.05858	0.570000	0.28473	0.419000	0.31324	0.095000	0.15127	0.531000	0.28639	-0.324000	0.08512	CCG	OR11L1	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197591		0.502	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1		0.00	50	0	G	NM_001001959		248004654	-1			no_errors	ENST00000355784	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.298	T
OR1L1	26737	genome.wustl.edu	37	9	125424901	125424901	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:125424901T>G	ENST00000373686.1	+	1	1057	c.1057T>G	c.(1057-1059)Ttg>Gtg	p.L353V	OR1L1_ENST00000309623.1_Missense_Mutation_p.L303V			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	353						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TTTGGCAAAGTTGATGCACAG	0.388																																																	0													84.0	78.0	80.0					9																	125424901		2203	4300	6503	SO:0001583	missense	0				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.1057T>G	9.37:g.125424901T>G	ENSP00000362790:p.Leu353Val		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L353V	ENST00000373686.1	37	c.1057		9	.	.	.	.	.	.	.	.	.	.	T	6.339	0.430617	0.12045	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.41400	1.0;1.0	3.26	-0.0241	0.13940	.	.	.	.	.	T	0.22244	0.0536	N	0.25992	0.78	0.09310	N	1	P	0.36171	0.541	B	0.29353	0.101	T	0.11324	-1.0592	9	0.27785	T	0.31	.	5.6123	0.17412	0.0:0.6124:0.1669:0.2207	.	353	Q8NH94	OR1L1_HUMAN	V	353;303	ENSP00000362790:L353V;ENSP00000310773:L303V	ENSP00000310773:L303V	L	+	1	2	OR1L1	124464722	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-3.550000	0.00434	-0.108000	0.12066	-1.962000	0.00476	TTG	OR1L1	-	NULL	ENSG00000173679		0.388	OR1L1-201	KNOWN	basic	protein_coding	OR1L1	HGNC	protein_coding		-	0.00	22	0	T			125424901	+1	tier1	-	no_errors	ENST00000373686	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.011	G
OR2A42	402317	genome.wustl.edu	37	7	143929621	143929621	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:143929621A>T	ENST00000391496.1	-	1	315	c.316T>A	c.(316-318)Ttt>Att	p.F106I	RP4-545C24.1_ENST00000464929.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-545C24.1_ENST00000480074.1_RNA|RP4-545C24.1_ENST00000477797.1_RNA|RP4-545C24.1_ENST00000493248.1_RNA|RP4-545C24.1_ENST00000498693.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000489077.1_RNA	NM_001001802.2	NP_001001802.2	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 42	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|skin(1)	4	Melanoma(164;0.14)					CTGTGTCCAAAACTCAAACAG	0.562																																																	0													50.0	58.0	56.0					7																	143929621		1509	3670	5179	SO:0001583	missense	0				CCDS56515.1	7q35	2013-09-20			ENSG00000212807	ENSG00000212807		"""GPCR / Class A : Olfactory receptors"""	31230	protein-coding gene	gene with protein product							Standard	NM_001001802		Approved			Q8NGT9	OTTHUMG00000157995	ENST00000391496.1:c.316T>A	7.37:g.143929621A>T	ENSP00000375334:p.Phe106Ile		Q6IF44|Q96R46	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F106I	ENST00000391496.1	37	c.316	CCDS56515.1	7	.	.	.	.	.	.	.	.	.	.	A	10.03	1.237780	0.22711	.	.	ENSG00000212807	ENST00000391496	T	0.01902	4.57	2.77	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03608	0.0103	.	.	.	0.09310	N	1	P	0.45715	0.865	P	0.45538	0.484	T	0.42172	-0.9467	8	0.62326	D	0.03	.	9.3585	0.38182	1.0:0.0:0.0:0.0	.	106	Q8NGT9	OR2A1_HUMAN	I	106	ENSP00000375334:F106I	ENSP00000375334:F106I	F	-	1	0	OR2A42	143560554	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.397000	0.07269	1.517000	0.48917	0.327000	0.21459	TTT	OR2A42	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000212807		0.562	OR2A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A42	HGNC	protein_coding	OTTHUMT00000349968.1	-	0.00	85	0	A			143929621	-1	tier1	-	no_errors	ENST00000391496	ensembl	human	known	74_37	missense	37.29	37	22	SNP	0.103	T
OR2L5	81466	genome.wustl.edu	37	1	248185653	248185653	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:248185653T>C	ENST00000355281.1	+	1	404	c.404T>C	c.(403-405)aTg>aCg	p.M135T	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1	Q8NG80	OR2L5_HUMAN	olfactory receptor, family 2, subfamily L, member 5	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										CCCATCCGTATGAGCAAAAGA	0.448																																																	0																																										SO:0001583	missense	0				CCDS58068.1	1q44	2012-08-09		2004-03-10	ENSG00000197454	ENSG00000197454		"""GPCR / Class A : Olfactory receptors"""	15011	protein-coding gene	gene with protein product				OR2L11, OR2L5P			Standard	NM_001258284		Approved		uc031psy.1	Q8NG80	OTTHUMG00000040194	ENST00000355281.1:c.404T>C	1.37:g.248185653T>C	ENSP00000347428:p.Met135Thr		Q6IF04	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M135T	ENST00000355281.1	37	c.404	CCDS58068.1	1	.	.	.	.	.	.	.	.	.	.	.	12.33	1.905040	0.33628	.	.	ENSG00000197454	ENST00000355281	T	0.01933	4.55	2.37	2.37	0.29283	.	0.197671	0.24735	U	0.036024	T	0.05456	0.0144	.	.	.	0.34058	D	0.656964	.	.	.	.	.	.	T	0.14364	-1.0475	7	0.87932	D	0	.	9.0755	0.36519	0.0:0.0:0.0:1.0	.	.	.	.	T	135	ENSP00000347428:M135T	ENSP00000347428:M135T	M	+	2	0	OR2L5	246252276	1.000000	0.71417	0.018000	0.16275	0.215000	0.24574	5.722000	0.68485	0.933000	0.37291	0.352000	0.21897	ATG	OR2L5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000197454		0.448	OR2L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L5	HGNC	protein_coding	OTTHUMT00000096851.1	-	0.00	100	0	T			248185653	+1	tier1	-	no_errors	ENST00000355281	ensembl	human	known	74_37	missense	32.89	51	25	SNP	0.921	C
OR4X1	390113	genome.wustl.edu	37	11	48286288	48286288	+	Silent	SNP	G	G	T	rs140713653		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:48286288G>T	ENST00000320048.1	+	1	876	c.876G>T	c.(874-876)gtG>gtT	p.V292V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V292V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGCTGAAGTGAAAAATGCCA	0.413																																																	1	Substitution - coding silent(1)	skin(1)											51.0	51.0	51.0					11																	48286288		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.876G>T	11.37:g.48286288G>T			Q6IF74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V292	ENST00000320048.1	37	c.876	CCDS31487.1	11																																																																																			OR4X1	-	prints_GPCR_Rhodpsn	ENSG00000176567		0.413	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X1	HGNC	protein_coding	OTTHUMT00000383373.1		0.00	28	0	G	NM_001004726		48286288	+1			no_errors	ENST00000320048	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.008	T
OR5D14	219436	genome.wustl.edu	37	11	55563643	55563643	+	Silent	SNP	C	C	T	rs375849432		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:55563643C>T	ENST00000335605.1	+	1	612	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	204						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)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTTCAGCTTCGCCACCTTCA	0.438																																																	0								C		1,4399	2.1+/-5.4	0,1,2199	206.0	196.0	200.0		612	-2.3	0.2	11		200	0,8592		0,0,4296	no	coding-synonymous	OR5D14	NM_001004735.1		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		204/315	55563643	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.612C>T	11.37:g.55563643C>T			Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F204	ENST00000335605.1	37	c.612	CCDS31508.1	11																																																																																			OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186113		0.438	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0.00	127	0	C	NM_001004735		55563643	+1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	silent	59.74	62	92	SNP	0.008	T
OR5T1	390155	genome.wustl.edu	37	11	56043680	56043680	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:56043680T>C	ENST00000313033.2	+	1	652	c.566T>C	c.(565-567)gTc>gCc	p.V189A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	189						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)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATTAGGCATGTCTTTTGTAAT	0.403																																																	0													247.0	230.0	236.0					11																	56043680		2201	4296	6497	SO:0001583	missense	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.566T>C	11.37:g.56043680T>C	ENSP00000323612:p.Val189Ala		B2RNM9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V189A	ENST00000313033.2	37	c.566	CCDS31525.1	11	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241884	0.39598	.	.	ENSG00000181698	ENST00000313033	T	0.00099	8.73	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.478727	0.17402	N	0.175494	T	0.00210	0.0006	L	0.32530	0.975	0.09310	N	1	P	0.45902	0.868	P	0.54544	0.755	T	0.52741	-0.8535	10	0.87932	D	0	.	7.6465	0.28323	0.1895:0.0:0.0:0.8105	.	189	Q8NG75	OR5T1_HUMAN	A	189	ENSP00000323612:V189A	ENSP00000323612:V189A	V	+	2	0	OR5T1	55800256	0.001000	0.12720	0.006000	0.13384	0.048000	0.14542	1.099000	0.31013	1.583000	0.49898	0.381000	0.24937	GTC	OR5T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181698		0.403	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	-	0.00	67	0	T	NM_001004745		56043680	+1	tier1	-	no_errors	ENST00000313033	ensembl	human	known	74_37	missense	53.98	52	61	SNP	0.001	C
OR6C68	403284	genome.wustl.edu	37	12	55886609	55886609	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:55886609G>A	ENST00000548615.1	+	1	448	c.448G>A	c.(448-450)Gca>Aca	p.A150T	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.A155T	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	150						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(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTGGATGGCAGCACTTATGAT	0.398																																																	0													147.0	133.0	138.0					12																	55886609		2203	4300	6503	SO:0001583	missense	0				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.448G>A	12.37:g.55886609G>A	ENSP00000448811:p.Ala150Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A155T	ENST00000548615.1	37	c.463	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278364	0.40294	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.41758	0.99;0.99	4.77	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	0.436563	0.18940	N	0.126950	T	0.27241	0.0668	N	0.25286	0.73	0.09310	N	1	B	0.22080	0.064	B	0.25884	0.064	T	0.23619	-1.0183	10	0.87932	D	0	.	6.9478	0.24528	0.1532:0.0:0.7053:0.1415	.	150	A6NDL8	O6C68_HUMAN	T	155;150	ENSP00000368983:A155T;ENSP00000448811:A150T	ENSP00000368983:A155T	A	+	1	0	OR6C68	54172876	0.234000	0.23783	0.000000	0.03702	0.001000	0.01503	2.194000	0.42668	0.299000	0.22661	0.603000	0.83216	GCA	OR6C68	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205327		0.398	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	-	0.00	50	0	G			55886609	+1	tier1	-	no_errors	ENST00000379662	ensembl	human	known	74_37	missense	21.43	44	12	SNP	0.006	A
AKAP2	11217	genome.wustl.edu	37	9	112899971	112899971	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:112899971C>T	ENST00000259318.7	+	2	1661	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I	AKAP2_ENST00000510514.5_Missense_Mutation_p.T716I|AKAP2_ENST00000374525.1_Missense_Mutation_p.T574I|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.T716I|AKAP2_ENST00000434623.2_Missense_Mutation_p.T574I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.T716I|AKAP2_ENST00000555236.1_Missense_Mutation_p.T716I	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	485										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TCTCAGGATACCACAGTCCTG	0.493																																																	0													99.0	98.0	98.0					9																	112899971		2203	4300	6503	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1454C>T	9.37:g.112899971C>T	ENSP00000259318:p.Thr485Ile		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.T716I	ENST00000259318.7	37	c.2147	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021887	0.75275	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.65364	1.23;1.24;1.23;1.24;0.5;-0.11;-0.15;0.56	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.997;0.998;0.996;0.999;0.999;0.997	T	0.74529	-0.3635	10	0.87932	D	0	-36.4375	19.1609	0.93531	0.0:1.0:0.0:0.0	.	485;574;568;574;575;716;716;534	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	I	716;716;716;716;574;574;534;485	ENSP00000363654:T716I;ENSP00000305861:T716I;ENSP00000451476:T716I;ENSP00000421522:T716I;ENSP00000404782:T574I;ENSP00000363649:T574I;ENSP00000419268:T534I;ENSP00000259318:T485I	ENSP00000259318:T485I	T	+	2	0	PALM2-AKAP2;AKAP2	111939792	1.000000	0.71417	0.995000	0.50966	0.885000	0.51271	7.272000	0.78516	2.757000	0.94681	0.655000	0.94253	ACC	PALM2-AKAP2	-	NULL	ENSG00000157654		0.493	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	-	0.00	26	0	C	NM_001004065		112899971	+1	tier1	-	no_errors	ENST00000374530	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	T
PAX1	5075	genome.wustl.edu	37	20	21686355	21686355	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:21686355A>C	ENST00000398485.2	+	1	59	c.5A>C	c.(4-6)aAg>aCg	p.K2T	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_5'Flank	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	2					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AATCGGATGAAGTTCACCCTG	0.682																																																	0													20.0	19.0	19.0					20																	21686355		692	1591	2283	SO:0001583	missense	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.5A>C	20.37:g.21686355A>C	ENSP00000381499:p.Lys2Thr		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.K2T	ENST00000398485.2	37	c.5	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443244	0.63067	.	.	ENSG00000125813	ENST00000398485	D	0.97850	-4.57	4.47	4.47	0.54385	.	.	.	.	.	D	0.95076	0.8405	N	0.14661	0.345	0.80722	D	1	D	0.58620	0.983	P	0.50314	0.637	D	0.95309	0.8410	9	0.87932	D	0	.	11.6835	0.51472	1.0:0.0:0.0:0.0	.	2	P15863	PAX1_HUMAN	T	2	ENSP00000381499:K2T	ENSP00000381499:K2T	K	+	2	0	PAX1	21634355	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.595000	0.54016	1.649000	0.50652	0.155000	0.16302	AAG	PAX1	-	NULL	ENSG00000125813		0.682	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0.00	91	0	A			21686355	+1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	25.00	66	22	SNP	1.000	C
PCDHA3	56145	genome.wustl.edu	37	5	140182828	140182828	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:140182828G>A	ENST00000522353.2	+	1	2046	c.2046G>A	c.(2044-2046)gcG>gcA	p.A682A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.A682A	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	682					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCCCAGGCGTCCGCTGGCG	0.647																																																	0													50.0	52.0	51.0					5																	140182828		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2046G>A	5.37:g.140182828G>A			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A682	ENST00000522353.2	37	c.2046	CCDS54915.1	5																																																																																			PCDHA3	-	NULL	ENSG00000255408		0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0.00	99	0	G	NM_018906		140182828	+1	tier1	-	no_errors	ENST00000522353	ensembl	human	known	74_37	silent	27.69	47	18	SNP	0.000	A
PCDHB12	56124	genome.wustl.edu	37	5	140589171	140589171	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:140589171T>C	ENST00000239450.2	+	1	881	c.692T>C	c.(691-693)gTg>gCg	p.V231A	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(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)			GTCAGGGTGGTGGTTGTAGAT	0.532																																																	0													96.0	97.0	96.0					5																	140589171		2203	4300	6503	SO:0001583	missense	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.692T>C	5.37:g.140589171T>C	ENSP00000239450:p.Val231Ala		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V231A	ENST00000239450.2	37	c.692	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.758124	0.00657	.	.	ENSG00000120328	ENST00000239450	T	0.00958	5.5	4.15	-0.0183	0.13965	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01353	0.0044	M	0.64080	1.96	0.09310	N	1	B	0.22211	0.066	B	0.32928	0.155	T	0.47381	-0.9122	9	0.16420	T	0.52	.	5.3443	0.16000	0.4867:0.0845:0.0:0.4287	.	231	Q9Y5F1	PCDBC_HUMAN	A	231	ENSP00000239450:V231A	ENSP00000239450:V231A	V	+	2	0	PCDHB12	140569355	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.334000	0.07883	-0.185000	0.10550	0.397000	0.26171	GTG	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.532	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0.00	49	0	T	NM_018932		140589171	+1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.000	C
PCDHB4	56131	genome.wustl.edu	37	5	140503257	140503257	+	Missense_Mutation	SNP	C	C	A	rs553336245		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:140503257C>A	ENST00000194152.1	+	1	1677	c.1677C>A	c.(1675-1677)ttC>ttA	p.F559L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.701																																																	0													27.0	30.0	29.0					5																	140503257		2195	4285	6480	SO:0001583	missense	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1677C>A	5.37:g.140503257C>A	ENSP00000194152:p.Phe559Leu		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F559L	ENST00000194152.1	37	c.1677	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033206	0.35893	.	.	ENSG00000081818	ENST00000194152	T	0.01538	4.79	3.77	2.88	0.33553	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00875	0.0029	N	0.10916	0.065	0.31194	N	0.700545	P	0.47106	0.89	B	0.38842	0.283	T	0.17715	-1.0360	9	0.07175	T	0.84	.	4.7435	0.13026	0.1946:0.6326:0.0:0.1727	.	559	Q9Y5E5	PCDB4_HUMAN	L	559	ENSP00000194152:F559L	ENSP00000194152:F559L	F	+	3	2	PCDHB4	140483441	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-2.013000	0.01450	2.117000	0.64856	0.485000	0.47835	TTC	PCDHB4	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000081818		0.701	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0.00	187	0	C	NM_018938		140503257	+1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	34.83	116	62	SNP	0.969	A
PCDHB15	56121	genome.wustl.edu	37	5	140626975	140626975	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:140626975C>A	ENST00000231173.3	+	1	1829	c.1829C>A	c.(1828-1830)aCg>aAg	p.T610K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	610	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAAGGCCACGGAGCCCGGG	0.716																																																	0													15.0	17.0	16.0					5																	140626975		1993	3961	5954	SO:0001583	missense	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1829C>A	5.37:g.140626975C>A	ENSP00000231173:p.Thr610Lys		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T610K	ENST00000231173.3	37	c.1829	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739135	0.69304	.	.	ENSG00000113248	ENST00000231173	T	0.50548	0.74	4.11	3.21	0.36854	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64843	0.2635	M	0.78223	2.4	0.37953	D	0.932723	D	0.55800	0.973	P	0.59948	0.866	T	0.73360	-0.4007	9	0.87932	D	0	.	13.4979	0.61436	0.0:0.8414:0.1586:0.0	.	610	Q9Y5E8	PCDBF_HUMAN	K	610	ENSP00000231173:T610K	ENSP00000231173:T610K	T	+	2	0	PCDHB15	140607159	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.284000	0.18864	0.823000	0.34589	0.549000	0.68633	ACG	PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113248		0.716	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	-	0.00	129	0	C	NM_018935		140626975	+1	tier1	-	no_errors	ENST00000231173	ensembl	human	known	74_37	missense	26.61	90	33	SNP	1.000	A
PCMTD1	115294	genome.wustl.edu	37	8	52733082	52733082	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:52733082G>A	ENST00000360540.5	-	7	1309	c.903C>T	c.(901-903)gaC>gaT	p.D301D	PCMTD1_ENST00000544451.1_Silent_p.D225D|PCMTD1_ENST00000522514.1_Silent_p.D301D|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	301						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				cctcttcACTGTCTAGAGGCT	0.398																																																	0													130.0	122.0	125.0					8																	52733082		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.903C>T	8.37:g.52733082G>A			Q96FK9	Silent	SNP	pfam_PCMT	p.D301	ENST00000360540.5	37	c.903	CCDS6148.1	8																																																																																			PCMTD1	-	NULL	ENSG00000168300		0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2		0.00	63	0	G	NM_052937		52733082	-1			no_errors	ENST00000360540	ensembl	human	known	74_37	silent	17.72	65	14	SNP	1.000	A
PCYT2	5833	genome.wustl.edu	37	17	79862952	79862952	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:79862952T>C	ENST00000538936.2	-	12	1156	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V	PCYT2_ENST00000538721.2_Missense_Mutation_p.I368V|PCYT2_ENST00000570388.1_Missense_Mutation_p.I272V|PCYT2_ENST00000331285.3_Missense_Mutation_p.I272V|PCYT2_ENST00000570391.1_Missense_Mutation_p.I318V|PCYT2_ENST00000571105.1_Missense_Mutation_p.I328V	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	350					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CTGTTGGTGATGATCCGCTGG	0.642																																																	0													65.0	58.0	60.0					17																	79862952		2202	4300	6502	SO:0001583	missense	0			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.1048A>G	17.37:g.79862952T>C	ENSP00000439245:p.Ile350Val		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	p.I368V	ENST00000538936.2	37	c.1102	CCDS11791.1	17	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689769	0.48097	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.52	4.52	0.55395	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.100848	0.64402	D	0.000003	T	0.58708	0.2141	L	0.45422	1.42	0.80722	D	1	B;P;D;D;D	0.61080	0.415;0.79;0.959;0.989;0.974	B;B;P;P;P	0.58210	0.083;0.441;0.835;0.78;0.78	T	0.56492	-0.7970	9	0.05620	T	0.96	-24.7571	13.983	0.64317	0.0:0.0:0.0:1.0	.	318;318;368;272;350	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	V	368;350;272	.	ENSP00000331719:I272V	I	-	1	0	PCYT2	77456244	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	7.441000	0.80485	1.883000	0.54544	0.379000	0.24179	ATC	PCYT2	-	NULL	ENSG00000185813		0.642	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT2	HGNC	protein_coding	OTTHUMT00000439939.1	-	0.00	24	0	T	NM_002861		79862952	-1	tier1	-	no_errors	ENST00000538721	ensembl	human	known	74_37	missense	32.26	21	10	SNP	1.000	C
PDE3A	5139	genome.wustl.edu	37	12	20522243	20522243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:20522243C>T	ENST00000359062.3	+	1	65	c.25C>T	c.(25-27)Cga>Tga	p.R9*	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	9					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGACGCTGCACGAGTCAGGGA	0.731																																																	0													4.0	6.0	6.0					12																	20522243		1830	3509	5339	SO:0001587	stop_gained	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.25C>T	12.37:g.20522243C>T	ENSP00000351957:p.Arg9*		O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.R9*	ENST00000359062.3	37	c.25	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225327	0.58668	.	.	ENSG00000172572	ENST00000359062	.	.	.	3.94	0.82	0.18793	.	3.962740	0.00424	N	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0025	0.30306	0.1596:0.5268:0.3136:0.0	.	.	.	.	X	9	.	ENSP00000351957:R9X	R	+	1	2	PDE3A	20413510	0.000000	0.05858	0.243000	0.24186	0.290000	0.27261	-0.142000	0.10311	0.827000	0.34685	0.484000	0.47621	CGA	PDE3A	-	NULL	ENSG00000172572		0.731	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2		0.00	15	0	C			20522243	+1			no_errors	ENST00000359062	ensembl	human	known	74_37	nonsense	83.33	1	5	SNP	0.005	T
PDE3A	5139	genome.wustl.edu	37	12	20522419	20522419	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:20522419G>A	ENST00000359062.3	+	1	241	c.201G>A	c.(199-201)gcG>gcA	p.A67A	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	67					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGCTGTGCGCGGGCTCCCTGT	0.716																																																	0													6.0	7.0	6.0					12																	20522419		2055	4103	6158	SO:0001819	synonymous_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.201G>A	12.37:g.20522419G>A			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A67	ENST00000359062.3	37	c.201	CCDS31754.1	12																																																																																			PDE3A	-	NULL	ENSG00000172572		0.716	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2		0.00	20	0	G			20522419	+1			no_errors	ENST00000359062	ensembl	human	known	74_37	silent	37.50	5	3	SNP	0.979	A
PDZRN3	23024	genome.wustl.edu	37	3	73453350	73453350	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:73453350T>A	ENST00000263666.4	-	4	1229	c.1115A>T	c.(1114-1116)aAg>aTg	p.K372M	PDZRN3_ENST00000462146.2_Missense_Mutation_p.K29M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.K89M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.K94M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.K29M|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	372					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGAGGACATCTTAGTGAGGGC	0.493																																																	0													175.0	143.0	154.0					3																	73453350		2203	4300	6503	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1115A>T	3.37:g.73453350T>A	ENSP00000263666:p.Lys372Met		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.K372M	ENST00000263666.4	37	c.1115	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	T	17.60	3.431103	0.62844	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.12255	2.7;3.39;3.27;3.27;3.41;3.38	6.07	4.91	0.64330	.	0.244039	0.34906	N	0.003591	T	0.30070	0.0753	M	0.76574	2.34	0.54753	D	0.999987	P;P;B;D	0.67145	0.538;0.93;0.032;0.996	P;P;B;P	0.55999	0.575;0.599;0.066;0.789	T	0.03130	-1.1069	10	0.54805	T	0.06	.	12.1187	0.53880	0.0:0.0675:0.0:0.9325	.	94;89;89;372	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	M	372;94;29;29;89;372;70	ENSP00000263666:K372M;ENSP00000442026:K94M;ENSP00000418168:K29M;ENSP00000418484:K29M;ENSP00000418624:K89M;ENSP00000419250:K70M	ENSP00000263666:K372M	K	-	2	0	PDZRN3	73536040	1.000000	0.71417	0.889000	0.34880	0.732000	0.41865	4.079000	0.57613	1.104000	0.41587	0.533000	0.62120	AAG	PDZRN3	-	NULL	ENSG00000121440		0.493	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0.00	83	0	T	XM_041363		73453350	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
PDZRN3	23024	genome.wustl.edu	37	3	73673859	73673859	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:73673859C>T	ENST00000263666.4	-	1	232	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3_ENST00000308537.4_Missense_Mutation_p.G40S|PDZRN3-AS1_ENST00000608304.1_RNA	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	40					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCACGCAGCCGGCGCAGAAG	0.721																																																	0													7.0	6.0	6.0					3																	73673859		2122	4172	6294	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.118G>A	3.37:g.73673859C>T	ENSP00000263666:p.Gly40Ser		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.G40S	ENST00000263666.4	37	c.118	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066610	0.36470	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.39592	1.07;1.07	4.39	3.5	0.40072	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.065408	0.64402	N	0.000010	T	0.13927	0.0337	N	0.02403	-0.565	0.80722	D	1	B	0.28178	0.202	B	0.19946	0.027	T	0.09574	-1.0668	10	0.07482	T	0.82	.	8.1049	0.30879	0.157:0.7577:0.0:0.0853	.	40	Q9UPQ7	PZRN3_HUMAN	S	40	ENSP00000263666:G40S;ENSP00000308831:G40S	ENSP00000263666:G40S	G	-	1	0	PDZRN3	73756549	1.000000	0.71417	0.953000	0.39169	0.776000	0.43924	4.345000	0.59360	0.807000	0.34208	0.205000	0.17691	GGC	PDZRN3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000121440		0.721	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0.00	32	0	C	XM_041363		73673859	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	T
PEG3	5178	genome.wustl.edu	37	19	57325232	57325232	+	Silent	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:57325232A>G	ENST00000326441.9	-	10	4941	c.4578T>C	c.(4576-4578)acT>acC	p.T1526T	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.T1526T|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.T1400T|PEG3_ENST00000598410.1_Silent_p.T1402T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1526					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCTGGCATGAGTTTTCAGGT	0.483																																																	0													165.0	148.0	153.0					19																	57325232		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4578T>C	19.37:g.57325232A>G			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.T1526	ENST00000326441.9	37	c.4578	CCDS12948.1	19																																																																																			PEG3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0.00	68	0	A			57325232	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	33.75	53	27	SNP	0.009	G
PELI3	246330	genome.wustl.edu	37	11	66238737	66238737	+	Silent	SNP	G	G	T	rs138149573		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:66238737G>T	ENST00000320740.7	+	4	409	c.249G>T	c.(247-249)ggG>ggT	p.G83G	CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000349459.6_Silent_p.G59G|PELI3_ENST00000524466.1_Silent_p.G83G|CTD-3074O7.5_ENST00000602951.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	83					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGGCAAGTGGGGACAAGGGCC	0.597																																																	0																																										SO:0001819	synonymous_variant	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.249G>T	11.37:g.66238737G>T			Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	pfam_Pellino_fam	p.G83	ENST00000320740.7	37	c.249	CCDS31615.1	11																																																																																			PELI3	-	pfam_Pellino_fam	ENSG00000174516		0.597	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	-	0.00	50	0	G	NM_145065		66238737	+1	tier1	-	no_errors	ENST00000320740	ensembl	human	known	74_37	silent	27.91	31	12	SNP	0.902	T
PGBD1	84547	genome.wustl.edu	37	6	28269197	28269197	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:28269197G>T	ENST00000405948.2	+	7	1986	c.1566G>T	c.(1564-1566)ttG>ttT	p.L522F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L522F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	522						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTACAAAGTTGAGACCTCTCA	0.348																																																	0													82.0	88.0	86.0					6																	28269197		2203	4299	6502	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1566G>T	6.37:g.28269197G>T	ENSP00000385213:p.Leu522Phe		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN	p.L522F	ENST00000405948.2	37	c.1566	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099937	0.37048	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17854	2.25;2.25	4.66	0.793	0.18632	.	0.163360	0.26867	N	0.022081	T	0.15696	0.0378	L	0.53249	1.67	0.30161	N	0.802214	D	0.76494	0.999	D	0.77557	0.99	T	0.03875	-1.0996	10	0.72032	D	0.01	-8.5032	4.5021	0.11869	0.2778:0.1624:0.5598:0.0	.	522	Q96JS3	PGBD1_HUMAN	F	522	ENSP00000385213:L522F;ENSP00000259883:L522F	ENSP00000259883:L522F	L	+	3	2	PGBD1	28377176	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	0.313000	0.19415	0.025000	0.15241	-0.136000	0.14681	TTG	PGBD1	-	NULL	ENSG00000137338		0.348	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	-	0.00	35	0	G			28269197	+1	tier1	-	no_errors	ENST00000259883	ensembl	human	known	74_37	missense	35.00	13	7	SNP	0.997	T
PHC3	80012	genome.wustl.edu	37	3	169889137	169889138	+	Intron	INS	-	-	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:169889137_169889138insA	ENST00000494943.1	-	4	447				PHC3_ENST00000481639.1_Frame_Shift_Ins_p.F142fs|PHC3_ENST00000497658.1_Frame_Shift_Ins_p.F146fs|PHC3_ENST00000467570.1_Intron|PHC3_ENST00000495893.2_Intron|PHC3_ENST00000474275.1_Intron			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTAAATCCAGGAAAAAAAAATT	0.337																																																	0																																										SO:0001627	intron_variant	0				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.378+22->T	3.37:g.169889146_169889146dupA			A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Frame_Shift_Ins	INS	NULL	p.L147fs	ENST00000494943.1	37	c.438_437		3																																																																																			PHC3	-	NULL	ENSG00000173889		0.337	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3		0.00	114	0	0	NM_024947		169889138	-1			no_errors	ENST00000497658	ensembl	human	known	74_37	frame_shift_ins	6.93	94	7	INS	0.001:0.001	A
JADE2	23338	genome.wustl.edu	37	5	133887749	133887749	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:133887749G>A	ENST00000402835.1	+	4	416	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	PHF15_ENST00000361895.2_Missense_Mutation_p.R54Q|PHF15_ENST00000395003.1_Missense_Mutation_p.R54Q|PHF15_ENST00000282605.4_Missense_Mutation_p.R54Q																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGTTTTCCGGACAGACTTG	0.552																																																	0													92.0	91.0	92.0					5																	133887749		2203	4300	6503	SO:0001583	missense	0																														ENST00000402835.1:c.161G>A	5.37:g.133887749G>A	ENSP00000384671:p.Arg54Gln			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R54Q	ENST00000402835.1	37	c.161		5	.	.	.	.	.	.	.	.	.	.	G	34	5.397130	0.96009	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	4.98	4.98	0.66077	Enhancer of polycomb-like, N-terminal (1);	0.121992	0.56097	D	0.000034	T	0.73628	0.3611	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.73708	0.981;0.972;0.981;0.946;0.981	T	0.78638	-0.2126	10	0.87932	D	0	.	18.8173	0.92081	0.0:0.0:1.0:0.0	.	54;54;54;54;70	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	Q	54;54;70;54;54;54;54;54;54	ENSP00000422991:R54Q;ENSP00000282605:R54Q;ENSP00000354425:R54Q;ENSP00000384671:R54Q;ENSP00000378451:R54Q;ENSP00000406189:R54Q	ENSP00000282605:R54Q	R	+	2	0	PHF15	133915648	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.353000	0.79414	2.746000	0.94184	0.655000	0.94253	CGG	PHF15	-	pfam_Enhancer_polycomb-like_N	ENSG00000043143		0.552	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	-	0.00	51	0	G			133887749	+1	tier1	-	no_errors	ENST00000395003	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	A
PHF7	51533	genome.wustl.edu	37	3	52457215	52457215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:52457215G>A	ENST00000327906.3	+	11	1688	c.1028G>A	c.(1027-1029)tGg>tAg	p.W343*	PHF7_ENST00000347025.2_Nonsense_Mutation_p.W304*	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	343						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GGCCTTTCTTGGACTGATTGG	0.527																																																	0													80.0	82.0	81.0					3																	52457215		2203	4300	6503	SO:0001587	stop_gained	0			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.1028G>A	3.37:g.52457215G>A	ENSP00000333024:p.Trp343*		K4DI82	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_RING	p.W343*	ENST00000327906.3	37	c.1028	CCDS2854.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.860625|1.860625	0.32884|0.32884	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000461861|ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	.|.	.|.	.|.	5.3|5.3	3.36|3.36	0.38483|0.38483	.|.	.|0.683503	.|0.14945	.|N	.|0.289293	T|.	0.53206|.	0.1782|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44128|.	-0.9348|.	4|.	.|0.26408	.|T	.|0.33	-11.2993|-11.2993	7.8007|7.8007	0.29172|0.29172	0.0:0.1678:0.6348:0.1974|0.0:0.1678:0.6348:0.1974	.|.	.|.	.|.	.|.	R|X	288|343;343;304;252	.|.	.|ENSP00000333024:W343X	G|W	+|+	1|2	0|0	PHF7|PHF7	52432255|52432255	0.926000|0.926000	0.31397|0.31397	0.978000|0.978000	0.43139|0.43139	0.107000|0.107000	0.19398|0.19398	1.767000|1.767000	0.38501|0.38501	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	GGA|TGG	PHF7	-	NULL	ENSG00000010318		0.527	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF7	HGNC	protein_coding	OTTHUMT00000351155.1	-	0.00	65	0	G	NM_016483		52457215	+1	tier1	-	no_errors	ENST00000327906	ensembl	human	known	74_37	nonsense	70.00	12	28	SNP	0.697	A
PIEZO2	63895	genome.wustl.edu	37	18	10857193	10857194	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:10857193_10857194insT	ENST00000503781.3	-	6	507_508	c.508_509insA	c.(508-510)attfs	p.I170fs	PIEZO2_ENST00000302079.6_Frame_Shift_Ins_p.I170fs|PIEZO2_ENST00000580640.1_Frame_Shift_Ins_p.I170fs	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	170					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TTCTGAATCAATTTTTTCTCCT	0.431																																																	0																																										SO:0001589	frameshift_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.509dupA	18.37:g.10857199_10857199dupT	ENSP00000421377:p.Ile170fs		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Frame_Shift_Ins	INS	NULL	p.I170fs	ENST00000503781.3	37	c.509_508		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.431	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4		0.00	52	0	-	NM_022068		10857194	-1	tier1		no_errors	ENST00000582913	ensembl	human	known	74_37	frame_shift_ins	34.78	30	16	INS	0.851:0.539	T
PIK3C2G	5288	genome.wustl.edu	37	12	18534755	18534755	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:18534755G>A	ENST00000266497.5	+	12	1851	c.1813G>A	c.(1813-1815)Gta>Ata	p.V605I	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V646I|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.V605I			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	605	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.V605I(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGAGCCTCCCGTAGAAATGAT	0.473																																																	2	Substitution - Missense(2)	large_intestine(2)											140.0	133.0	135.0					12																	18534755		1924	4128	6052	SO:0001583	missense	0			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1813G>A	12.37:g.18534755G>A	ENSP00000266497:p.Val605Ile		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.V646I	ENST00000266497.5	37	c.1936	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.172293	0.00027	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.75821	-0.97;-0.97;-0.97	4.35	-0.832	0.10785	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	1.186130	0.05910	N	0.631568	T	0.36717	0.0977	N	0.00347	-1.61	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.20974	-1.0259	10	0.17832	T	0.49	-1.1609	6.4136	0.21704	0.6782:0.1346:0.1872:0.0	.	645;646;605	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	I	605;605;646	ENSP00000404845:V605I;ENSP00000266497:V605I;ENSP00000445381:V646I	ENSP00000266497:V605I	V	+	1	0	PIK3C2G	18426022	0.069000	0.21087	0.291000	0.24904	0.017000	0.09413	0.131000	0.15870	-0.407000	0.07576	-4.209000	0.00009	GTA	PIK3C2G	-	pfam_PI3K_C2_dom,superfamily_C2_dom	ENSG00000139144		0.473	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1		0.00	62	0	G	NM_004570		18534755	+1			no_errors	ENST00000538779	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.384	A
PIK3CA	5290	genome.wustl.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	26	Substitution - Missense(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)											93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A			Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G118D	ENST00000263967.3	37	c.353	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT	PIK3CA	-	NULL	ENSG00000121879		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	47	0	G		Missense_Mutation	178917478	+1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	A
PIWIL1	9271	genome.wustl.edu	37	12	130831046	130831046	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:130831046C>A	ENST00000245255.3	+	5	720	c.448C>A	c.(448-450)Ctt>Att	p.L150I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	150					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.L150I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTCAGCTCTTCTTTTTCAACA	0.413																																																	1	Substitution - Missense(1)	lung(1)											95.0	90.0	91.0					12																	130831046		2203	4300	6503	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.448C>A	12.37:g.130831046C>A	ENSP00000245255:p.Leu150Ile		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.L150I	ENST00000245255.3	37	c.448	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887673	0.91814	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539995;ENST00000542723;ENST00000540672	T;T;T;T;T	0.62639	2.81;2.81;0.01;2.81;2.81	5.73	5.73	0.89815	Argonaute/Dicer protein, PAZ (1);	0.057722	0.64402	D	0.000001	T	0.76040	0.3932	L	0.49455	1.56	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.919	T	0.75388	-0.3335	10	0.52906	T	0.07	-16.8752	18.8981	0.92432	0.0:1.0:0.0:0.0	.	150;150	Q96J94;Q96J94-2	PIWL1_HUMAN;.	I	150;150;150;150;11	ENSP00000245255:L150I;ENSP00000442086:L150I;ENSP00000439096:L150I;ENSP00000438582:L150I;ENSP00000441695:L11I	ENSP00000245255:L150I	L	+	1	0	PIWIL1	129396999	1.000000	0.71417	0.924000	0.36721	0.979000	0.70002	6.064000	0.71169	2.691000	0.91804	0.650000	0.86243	CTT	PIWIL1	-	superfamily_PAZ_dom	ENSG00000125207		0.413	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1		0.00	34	0	C			130831046	+1			no_errors	ENST00000245255	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
PKD1L1	168507	genome.wustl.edu	37	7	47979806	47979806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:47979806G>T	ENST00000289672.2	-	3	319	c.269C>A	c.(268-270)tCa>tAa	p.S90*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	90					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTGGAAGCTGATGAGGATGG	0.468																																																	0													159.0	135.0	143.0					7																	47979806		2203	4300	6503	SO:0001587	stop_gained	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.269C>A	7.37:g.47979806G>T	ENSP00000289672:p.Ser90*		Q6UWK1	Nonsense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.S90*	ENST00000289672.2	37	c.269	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461970	0.43736	.	.	ENSG00000158683	ENST00000289672	.	.	.	2.82	-4.43	0.03568	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	5.5253	0.16955	0.4826:0.1453:0.3721:0.0	.	.	.	.	X	90	.	ENSP00000289672:S90X	S	-	2	0	PKD1L1	47946331	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.404000	0.07205	-1.284000	0.02390	-0.923000	0.02734	TCA	PKD1L1	-	NULL	ENSG00000158683		0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0.00	58	0	G	NM_138295		47979806	-1			no_errors	ENST00000289672	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.000	T
PLEKHO2	80301	genome.wustl.edu	37	15	65157548	65157548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:65157548delC	ENST00000323544.4	+	6	1062	c.934delC	c.(934-936)cccfs	p.P314fs	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	314	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCCCTACACCCCCACCCAA	0.617																																																	0													43.0	49.0	47.0					15																	65157548		2202	4299	6501	SO:0001589	frameshift_variant	0			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.934delC	15.37:g.65157548delC	ENSP00000326706:p.Pro314fs		Q7L4H4|Q8WYS8	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P313fs	ENST00000323544.4	37	c.934	CCDS10196.1	15																																																																																			PLEKHO2	-	NULL	ENSG00000241839		0.617	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1		0.00	51	0	C	NM_025201		65157548	+1	tier1		no_errors	ENST00000323544	ensembl	human	known	74_37	frame_shift_del	59.52	17	25	DEL	0.992	-
PPP1R12B	4660	genome.wustl.edu	37	1	202549679	202549679	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:202549679G>T	ENST00000608999.1	+	24	3093	c.2940G>T	c.(2938-2940)ctG>ctT	p.L980L	PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Silent_p.L206L|PPP1R12B_ENST00000336894.4_Silent_p.L980L|PPP1R12B_ENST00000367270.4_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	980					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCAGCAAACTGTCCAAGTAGG	0.483																																																	0													84.0	77.0	79.0					1																	202549679		2203	4300	6503	SO:0001819	synonymous_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2940G>T	1.37:g.202549679G>T			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L980	ENST00000608999.1	37	c.2940	CCDS1426.1	1																																																																																			PPP1R12B	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000077157		0.483	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	-	0.00	35	0	G	NM_032105		202549679	+1	tier1	-	no_errors	ENST00000336894	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.965	T
PPP1R1C	151242	genome.wustl.edu	37	2	182928463	182928463	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:182928463G>T	ENST00000409137.3	+	4	429	c.186G>T	c.(184-186)caG>caT	p.Q62H	PPP1R1C_ENST00000280295.3_Missense_Mutation_p.Q69H|PPP1R1C_ENST00000475249.1_3'UTR|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.Q62H|PPP1R1C_ENST00000409702.1_Missense_Mutation_p.Q62H	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	62					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			CACAGTTACAGAATGCATCCC	0.418																																																	0													183.0	172.0	176.0					2																	182928463		1889	4118	6007	SO:0001583	missense	0			AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.186G>T	2.37:g.182928463G>T	ENSP00000386359:p.Gln62His		Q5HYJ5|Q8TD54	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.Q62H	ENST00000409137.3	37	c.186	CCDS46468.1	2	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674272	0.47781	.	.	ENSG00000150722	ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.35	4.47	0.54385	.	0.165248	0.40728	N	0.001040	T	0.43233	0.1238	L	0.54323	1.7	0.36421	D	0.864295	D;D	0.76494	0.999;0.996	D;D	0.85130	0.997;0.995	T	0.48269	-0.9050	10	0.07990	T	0.79	.	9.9342	0.41541	0.0941:0.0:0.9059:0.0	.	69;62	Q8WVI7-2;Q8WVI7	.;PPR1C_HUMAN	H	62;62;69;62	ENSP00000399602:Q62H;ENSP00000386359:Q62H;ENSP00000280295:Q69H;ENSP00000386778:Q62H	ENSP00000280295:Q69H	Q	+	3	2	PPP1R1C	182636708	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.487000	0.53222	1.254000	0.44035	0.650000	0.86243	CAG	PPP1R1C	-	pfam_PPI_1DARPP-32	ENSG00000150722		0.418	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1C	HGNC	protein_coding	OTTHUMT00000334874.1		0.00	63	0	G	NM_001080545		182928463	+1			no_errors	ENST00000409137	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
PRAMEF4	400735	genome.wustl.edu	37	1	12943091	12943091	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:12943091A>C	ENST00000235349.5	-	2	195	c.125T>G	c.(124-126)tTc>tGc	p.F42C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	42					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTCCATGAACAGTGGGGG	0.617																																																	0													46.0	52.0	50.0					1																	12943091		2169	4258	6427	SO:0001583	missense	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.125T>G	1.37:g.12943091A>C	ENSP00000235349:p.Phe42Cys		Q5LJB5	Missense_Mutation	SNP	NULL	p.F42C	ENST00000235349.5	37	c.125	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	a	12.30	1.897819	0.33535	.	.	ENSG00000243073	ENST00000235349	T	0.06142	3.34	1.48	1.48	0.22813	.	0.079055	0.52532	D	0.000072	T	0.27559	0.0677	H	0.94183	3.505	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04650	-1.0936	10	0.87932	D	0	.	5.1316	0.14913	1.0:0.0:0.0:0.0	.	42	O60810	PRAM4_HUMAN	C	42	ENSP00000235349:F42C	ENSP00000235349:F42C	F	-	2	0	PRAMEF4	12865678	0.038000	0.19896	0.030000	0.17652	0.135000	0.20990	2.445000	0.44899	0.939000	0.37446	0.329000	0.21502	TTC	PRAMEF4	-	NULL	ENSG00000243073		0.617	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	-	0.00	189	0	A	NM_001009611		12943091	-1	tier1	-	no_errors	ENST00000235349	ensembl	human	known	74_37	missense	24.54	163	53	SNP	0.054	C
PRDM9	56979	genome.wustl.edu	37	5	23526579	23526579	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:23526579A>T	ENST00000296682.3	+	11	1564	c.1382A>T	c.(1381-1383)aAa>aTa	p.K461I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	461					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAAGGTCCAAACTCTTGAAT	0.463										HNSCC(3;0.000094)																																							0													41.0	43.0	42.0					5																	23526579		2202	4298	6500	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1382A>T	5.37:g.23526579A>T	ENSP00000296682:p.Lys461Ile		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K461I	ENST00000296682.3	37	c.1382	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415134	0.25552	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.10192	2.9	2.71	1.5	0.22942	.	0.633782	0.13062	N	0.416830	T	0.13114	0.0318	L	0.46157	1.445	0.19775	N	0.999952	D	0.56968	0.978	P	0.52267	0.694	T	0.15925	-1.0420	10	0.45353	T	0.12	-1.3026	2.3409	0.04260	0.6128:0.0:0.1452:0.242	.	461	Q9NQV7	PRDM9_HUMAN	I	461;255	ENSP00000296682:K461I	ENSP00000253473:K255I	K	+	2	0	PRDM9	23562336	0.000000	0.05858	0.016000	0.15963	0.051000	0.14879	0.455000	0.21843	0.414000	0.25790	0.413000	0.27773	AAA	PRDM9	-	NULL	ENSG00000164256		0.463	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0.00	73	0	A	NM_020227		23526579	+1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	12.04	95	13	SNP	0.523	T
PRIM2	5558	genome.wustl.edu	37	6	57244769	57244769	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:57244769A>C	ENST00000607273.1	+	6	617	c.530A>C	c.(529-531)aAg>aCg	p.K177T	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	177					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGTGGACTTAAGTTGGGGTTC	0.313																																																	0													50.0	52.0	51.0					6																	57244769		1908	4115	6023	SO:0001583	missense	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.530A>C	6.37:g.57244769A>C	ENSP00000475738:p.Lys177Thr		Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	pfam_DNA_primase_lsu_euk/arc	p.K177T	ENST00000607273.1	37	c.530		6																																																																																			PRIM2	-	NULL	ENSG00000146143		0.313	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	PRIM2	HGNC	protein_coding		-	0.00	129	0	A	NM_000947		57244769	+1	tier1	-	no_errors	ENST00000607273	ensembl	human	known	74_37	missense	8.33	65	6	SNP	0.000	C
PRUNE2	158471	genome.wustl.edu	37	9	79253189	79253189	+	Frame_Shift_Del	DEL	C	C	-	rs373259322		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:79253189delC	ENST00000376718.3	-	13	8867	c.8744delG	c.(8743-8745)ggtfs	p.G2915fs	PRUNE2_ENST00000443509.2_Frame_Shift_Del_p.G164fs|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Frame_Shift_Del_p.G2557fs|PRUNE2_ENST00000223609.6_Frame_Shift_Del_p.G180fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2915	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGCATTTAGACCGTCCCCATA	0.423																																																	0													62.0	59.0	60.0					9																	79253189		1568	3582	5150	SO:0001589	frameshift_variant	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8744delG	9.37:g.79253189delC	ENSP00000365908:p.Gly2915fs		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Del	DEL	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.G2557fs	ENST00000376718.3	37	c.7670	CCDS47982.1	9																																																																																			PRUNE2	-	pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000106772		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2		0.00	55	0	C	NM_138818		79253189	-1	tier1		no_errors	ENST00000428286	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	1.000	-
PTCHD3	374308	genome.wustl.edu	37	10	27702849	27702849	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:27702849G>A	ENST00000438700.3	-	1	448	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	111					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGCGGTGCCGGTGCCTGCAG	0.701																																																	0													32.0	34.0	33.0					10																	27702849		2203	4299	6502	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.331C>T	10.37:g.27702849G>A	ENSP00000417658:p.Arg111Trp		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.R111W	ENST00000438700.3	37	c.331	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753546	0.31046	.	.	ENSG00000182077	ENST00000438700	D	0.88431	-2.38	1.8	0.611	0.17586	.	.	.	.	.	D	0.86932	0.6052	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	P	0.52598	0.703	T	0.76822	-0.2817	9	0.72032	D	0.01	.	4.4893	0.11806	0.5068:0.0:0.4932:0.0	.	111	Q3KNS1	PTHD3_HUMAN	W	111	ENSP00000417658:R111W	ENSP00000417658:R111W	R	-	1	2	PTCHD3	27742855	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.306000	0.19279	-0.293000	0.08986	-0.367000	0.07326	CGG	PTCHD3	-	NULL	ENSG00000182077		0.701	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3		0.00	46	0	G	XM_370541		27702849	-1			no_errors	ENST00000438700	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.002	A
PTOV1	53635	genome.wustl.edu	37	19	50358446	50358446	+	Intron	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:50358446A>G	ENST00000601675.1	+	5	662				MIR4749_ENST00000578197.1_RNA|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000221557.9_Intron|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000601638.1_Intron|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000598325.1_Intron|PTOV1_ENST00000599732.1_Intron|PTOV1_ENST00000391842.1_Intron|PTOV1_ENST00000600603.1_Intron			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGCCGAGGGTAGCCCTCGTGG	0.642																																																	0																																										SO:0001627	intron_variant	0			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.558+112A>G	19.37:g.50358446A>G			Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	RNA	SNP	-	NULL	ENST00000601675.1	37	NULL	CCDS12782.1	19																																																																																			PTOV1	-	-	ENSG00000104960		0.642	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1	-	0.00	33	0	A	NM_017432		50358446	+1	tier1	-	no_errors	ENST00000600105	ensembl	human	known	74_37	rna	38.64	27	17	SNP	0.000	G
PTPRR	5801	genome.wustl.edu	37	12	71286634	71286635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:71286634_71286635insT	ENST00000283228.2	-	2	633_634	c.181_182insA	c.(181-183)atcfs	p.I61fs		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	61					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATGTCTGTAGATTTTTTGTGGG	0.426																																																	0																																										SO:0001589	frameshift_variant	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.182dupA	12.37:g.71286640_71286640dupT	ENSP00000283228:p.Ile61fs		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Frame_Shift_Ins	INS	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I61fs	ENST00000283228.2	37	c.182_181	CCDS8998.1	12																																																																																			PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.426	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1		0.00	70	0	-	NM_002849		71286635	-1	tier1		no_errors	ENST00000283228	ensembl	human	known	74_37	frame_shift_ins	21.18	67	18	INS	0.989:0.992	T
PTPRS	5802	genome.wustl.edu	37	19	5229535	5229535	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:5229535C>T	ENST00000587303.1	-	14	2415	c.2316G>A	c.(2314-2316)ccG>ccA	p.P772P	PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Silent_p.P759P|PTPRS_ENST00000262963.6_Silent_p.P768P|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000348075.2_Silent_p.P759P|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000357368.4_Silent_p.P772P|PTPRS_ENST00000372412.4_Silent_p.P773P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	772	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCTTGATgcgcggcggcccgc	0.801																																																	0																																										SO:0001819	synonymous_variant	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2316G>A	19.37:g.5229535C>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.P773	ENST00000587303.1	37	c.2319	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.801	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0.00	11	0	C			5229535	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	silent	62.50	3	5	SNP	1.000	T
PWWP2A	114825	genome.wustl.edu	37	5	159546081	159546081	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:159546081G>A	ENST00000307063.7	-	1	349	c.315C>T	c.(313-315)gcC>gcT	p.A105A	PWWP2A_ENST00000523662.1_Silent_p.A105A|PWWP2A_ENST00000456329.3_Silent_p.A105A	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	105	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGAGGCGCGGCTGCCGCCG	0.766																																																	0													19.0	22.0	21.0					5																	159546081		1581	3526	5107	SO:0001819	synonymous_variant	0				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.315C>T	5.37:g.159546081G>A			G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.A105	ENST00000307063.7	37	c.315	CCDS47332.1	5																																																																																			PWWP2A	-	NULL	ENSG00000170234		0.766	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2A	HGNC	protein_coding	OTTHUMT00000374092.1		0.00	11	0	G			159546081	-1			no_errors	ENST00000307063	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.001	A
RAB27A	5873	genome.wustl.edu	37	15	55516100	55516100	+	Missense_Mutation	SNP	C	C	T	rs104894499		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:55516100C>T	ENST00000396307.2	-	5	705	c.454G>A	c.(454-456)Gca>Aca	p.A152T	RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T|RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	152			A -> P (in GS2; may affect GTP binding; interferes with melanosome transport). {ECO:0000269|PubMed:10835631}.		antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TATTTCTCTGCGAGTGCTATG	0.393																																																	0			GRCh37	CM001324	RAB27A	M	rs104894499						177.0	181.0	180.0					15																	55516100		2193	4292	6485	SO:0001583	missense	0			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.454G>A	15.37:g.55516100C>T	ENSP00000379601:p.Ala152Thr		O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A152T	ENST00000396307.2	37	c.454	CCDS10153.1	15	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000069974	ENST00000396307;ENST00000336787	D;D	0.82167	-1.58;-1.58	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	D	0.91633	0.5320	10	0.87932	D	0	-12.6781	18.6655	0.91488	0.0:1.0:0.0:0.0	.	152	P51159	RB27A_HUMAN	T	152	ENSP00000379601:A152T;ENSP00000337761:A152T	ENSP00000337761:A152T	A	-	1	0	RAB27A	53303392	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	7.532000	0.81985	2.746000	0.94184	0.555000	0.69702	GCA	RAB27A	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000069974		0.393	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB27A	HGNC	protein_coding	OTTHUMT00000254918.1	-	0.00	76	0	C	NM_004580, NM_183236		55516100	-1	tier1	-	no_errors	ENST00000336787	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
RAB2A	5862	genome.wustl.edu	37	8	61504469	61504469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:61504469C>T	ENST00000262646.7	+	6	766	c.415C>T	c.(415-417)Cga>Tga	p.R139*	RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000531289.1_Nonsense_Mutation_p.R115*|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	139					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AGCTTTTGCACGAGAACATGG	0.353																																																	0													105.0	107.0	106.0					8																	61504469		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.415C>T	8.37:g.61504469C>T	ENSP00000262646:p.Arg139*		B2R5W8|B4DMQ5|P08886	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R139*	ENST00000262646.7	37	c.415	CCDS6175.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.459933|6.459933	0.97585|0.97585	.|.	.|.	ENSG00000104388|ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000543829|ENST00000452437	.|.	.|.	.|.	5.48|5.48	4.6|4.6	0.57074|0.57074	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69620	.|0.3131	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68849	.|-0.5300	.|4	0.06494|.	T|.	0.89|.	.|.	13.7789|13.7789	0.63071|0.63071	0.2782:0.7218:0.0:0.0|0.2782:0.7218:0.0:0.0	.|.	.|.	.|.	.|.	X|M	139;115;93|49	.|.	ENSP00000262646:R139X|.	R|T	+|+	1|2	2|0	RAB2A|RAB2A	61667023|61667023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.024000|3.024000	0.49674|0.49674	1.408000|1.408000	0.46895|0.46895	0.585000|0.585000	0.79938|0.79938	CGA|ACG	RAB2A	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000104388		0.353	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	HGNC	protein_coding	OTTHUMT00000259145.2	-	0.00	67	0	C			61504469	+1	tier1	-	no_errors	ENST00000262646	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T
RABEP1	9135	genome.wustl.edu	37	17	5271755	5271755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:5271755G>T	ENST00000546142.2	+	12	2063	c.1876G>T	c.(1876-1878)Gaa>Taa	p.E626*	RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000341923.6_Nonsense_Mutation_p.E626*|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000262477.6_Nonsense_Mutation_p.E626*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.E626*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.E583*			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	626					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GGATGTTCAGGAACAGATGGT	0.378																																																	0													129.0	127.0	128.0					17																	5271755		1858	4100	5958	SO:0001587	stop_gained	0			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1876G>T	17.37:g.5271755G>T	ENSP00000437701:p.Glu626*		B2RAG7|O95369|Q8IVX3	Nonsense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.E626*	ENST00000546142.2	37	c.1876	CCDS45592.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.530187	0.98850	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	.	.	.	4.96	4.96	0.65561	.	0.157258	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-13.0437	17.3286	0.87257	0.0:0.0:1.0:0.0	.	.	.	.	X	626;626;619;626;626;583	.	ENSP00000262477:E626X	E	+	1	0	RABEP1	5212479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.726000	0.74758	2.746000	0.94184	0.591000	0.81541	GAA	RABEP1	-	pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	ENSG00000029725		0.378	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1		0.00	24	0	G	NM_004703		5271755	+1			no_errors	ENST00000262477	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	1.000	T
RAD51B	5890	genome.wustl.edu	37	14	68934957	68934957	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:68934957G>A	ENST00000487270.1	+	10	1074	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Silent_p.L342L|RAD51B_ENST00000471583.1_Silent_p.L342L|RAD51B_ENST00000390683.3_Silent_p.L342L|RAD51B_ENST00000488612.1_Silent_p.L342L	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	342					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGGAAGGCCTGGTTCTTCAAG	0.438								Direct reversal of damage																																									0													215.0	197.0	203.0					14																	68934957		2203	4300	6503	SO:0001819	synonymous_variant	0			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.1026G>A	14.37:g.68934957G>A			O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.L342	ENST00000487270.1	37	c.1026	CCDS9789.1	14																																																																																			RAD51B	-	pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like	ENSG00000182185		0.438	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	-	0.00	73	0	G			68934957	+1	tier1	-	no_errors	ENST00000487270	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	A
RANBP3L	202151	genome.wustl.edu	37	5	36269493	36269493	+	Splice_Site	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:36269493T>A	ENST00000296604.3	-	4	752	c.267A>T	c.(265-267)ggA>ggT	p.G89G	RANBP3L_ENST00000515759.1_Splice_Site_p.G89G|RANBP3L_ENST00000502994.1_Splice_Site_p.G89G	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	89					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TATACATACCTCCCTGGGACT	0.363																																																	0													102.0	99.0	100.0					5																	36269493		2203	4300	6503	SO:0001630	splice_region_variant	0			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.268+1A>T	5.37:g.36269493T>A			B7Z866|E9PGP9|Q96LK2	Silent	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.G89	ENST00000296604.3	37	c.267	CCDS3918.1	5																																																																																			RANBP3L	-	NULL	ENSG00000164188		0.363	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	-	0.00	92	0	T	NM_145000	Silent	36269493	-1	tier1	-	no_errors	ENST00000296604	ensembl	human	known	74_37	silent	41.57	52	37	SNP	0.999	A
RASSF1	11186	genome.wustl.edu	37	3	50374875	50374876	+	5'UTR	INS	-	-	AG	rs35023421	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:50374875_50374876insAG	ENST00000327761.3	-	0	19_20				RASSF1_ENST00000488024.1_5'UTR|RASSF1_ENST00000395126.3_Intron|RASSF1_ENST00000359365.4_Intron|RASSF1_ENST00000357043.2_Intron	NM_170713.2	NP_733831.1			Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCGCAACCGTTAAGACTGAAAC	0.683														51	0.0101837	0.0008	0.0202	5008	,	,		15039	0.0		0.0338	False		,,,				2504	0.002																0																																										SO:0001623	5_prime_UTR_variant	0			AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000327761.3:c.-126->CT	3.37:g.50374875_50374876insAG				RNA	INS	-	NULL	ENST00000327761.3	37	NULL	CCDS2821.1	3																																																																																			RASSF1	-	-	ENSG00000068028		0.683	RASSF1-007	KNOWN	basic|CCDS	protein_coding	RASSF1	HGNC	protein_coding	OTTHUMT00000314309.1		0.00	8	0	-			50374876	-1	tier1		no_errors	ENST00000488024	ensembl	human	known	74_37	rna	85.71	1	6	INS	1.000:0.946	AG
RBM4	5936	genome.wustl.edu	37	11	66411101	66411101	+	Missense_Mutation	SNP	G	G	A	rs577949918		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:66411101G>A	ENST00000409406.1	+	2	1370	c.593G>A	c.(592-594)cGt>cAt	p.R198H	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.R198H|RBM4_ENST00000503028.2_Missense_Mutation_p.R198H|RBM4_ENST00000310092.7_Missense_Mutation_p.R198H|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.R173H|RBM4_ENST00000514361.3_Missense_Mutation_p.R173H|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	198	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GGAGCAGTGCGTACGCCTTAC	0.547																																																	0													78.0	86.0	84.0					11																	66411101		2190	4291	6481	SO:0001583	missense	0			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.593G>A	11.37:g.66411101G>A	ENSP00000386894:p.Arg198His		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.R198H	ENST00000409406.1	37	c.593	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407698	0.42715	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000409406	T;T;T;T;T	0.50001	0.76;1.61;1.61;1.61;1.61	6.06	6.06	0.98353	.	0.276195	0.32041	U	0.006667	T	0.43919	0.1269	N	0.22421	0.69	0.41438	D	0.987905	D;B	0.60160	0.987;0.014	P;B	0.51193	0.662;0.003	T	0.31420	-0.9944	10	0.44086	T	0.13	-2.0718	12.9848	0.58586	0.0:0.0:0.8387:0.1613	.	173;198	B0LM41;Q9BWF3	.;RBM4_HUMAN	H	173;198;198;198;198;198	ENSP00000388552:R173H;ENSP00000425760:R198H;ENSP00000309166:R198H;ENSP00000386561:R198H;ENSP00000386894:R198H	ENSP00000388552:R173H	R	+	2	0	RBM4;RBM14-RBM4	66167677	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.555000	0.60767	2.882000	0.98803	0.655000	0.94253	CGT	RBM4	-	NULL	ENSG00000173933		0.547	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	HGNC	protein_coding	OTTHUMT00000334212.1	-	0.00	39	0	G	NM_002896		66411101	+1	tier1	-	no_errors	ENST00000310092	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	A
RIPK1	8737	genome.wustl.edu	37	6	3105845	3105845	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:3105845A>G	ENST00000259808.4	+	9	1434	c.1136A>G	c.(1135-1137)cAa>cGa	p.Q379R	RIPK1_ENST00000541791.1_Missense_Mutation_p.Q333R|RIPK1_ENST00000380409.2_Missense_Mutation_p.Q379R|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	379	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGTAAACTCCAAGACGAAGCC	0.547																																																	0													93.0	95.0	95.0					6																	3105845		2203	4300	6503	SO:0001583	missense	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1136A>G	6.37:g.3105845A>G	ENSP00000259808:p.Gln379Arg		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q379R	ENST00000259808.4	37	c.1136	CCDS4482.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.189269|4.189269	0.78789|0.78789	.|.	.|.	ENSG00000137275|ENSG00000137275	ENST00000453483|ENST00000259808;ENST00000541791;ENST00000380409	.|T;T;T	.|0.79033	.|-1.23;-0.74;-1.23	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.334164	.|0.35615	.|N	.|0.003088	D|D	0.83815|0.83815	0.5336|0.5336	M|M	0.66939|0.66939	2.045|2.045	0.40640|0.40640	D|D	0.981932|0.981932	.|D;D	.|0.76494	.|0.999;0.995	.|D;P	.|0.69479	.|0.964;0.814	D|D	0.86168|0.86168	0.1598|0.1598	6|10	0.87932|0.72032	D|D	0|0.01	-29.1053|-29.1053	16.0419|16.0419	0.80691|0.80691	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|333;379	.|Q13546-2;Q13546	.|.;RIPK1_HUMAN	E|R	10|379;333;379	.|ENSP00000259808:Q379R;ENSP00000442294:Q333R;ENSP00000369773:Q379R	ENSP00000415981:K10E|ENSP00000259808:Q379R	K|Q	+|+	1|2	0|0	RIPK1|RIPK1	3050844|3050844	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.584000|0.584000	0.36387|0.36387	4.325000|4.325000	0.59234|0.59234	2.197000|2.197000	0.70478|0.70478	0.533000|0.533000	0.62120|0.62120	AAG|CAA	RIPK1	-	NULL	ENSG00000137275		0.547	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2		0.00	31	0	A	NM_003804		3105845	+1			no_errors	ENST00000259808	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.998	G
RIMS1	22999	genome.wustl.edu	37	6	72975164	72975164	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:72975164T>G	ENST00000521978.1	+	21	3266	c.3266T>G	c.(3265-3267)tTt>tGt	p.F1089C	RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000348717.5_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1089					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)				CATGAATGCTTTAACTCAACA	0.343																																																	0													95.0	89.0	91.0					6																	72975164		1858	4102	5960	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.3266T>G	6.37:g.72975164T>G	ENSP00000428417:p.Phe1089Cys		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.F1089C	ENST00000521978.1	37	c.3266	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	T	9.933	1.215380	0.22373	.	.	ENSG00000079841	ENST00000521978	T	0.13420	2.59	5.42	4.22	0.49857	.	0.159563	0.29253	N	0.012695	T	0.02267	0.0070	N	0.08118	0	0.29909	N	0.823746	P	0.34462	0.454	B	0.31191	0.125	T	0.39881	-0.9592	10	0.37606	T	0.19	-8.7784	11.3205	0.49419	0.1404:0.0:0.0:0.8596	.	1089	Q86UR5	RIMS1_HUMAN	C	1089	ENSP00000428417:F1089C	ENSP00000428417:F1089C	F	+	2	0	RIMS1	73031885	0.882000	0.30256	0.014000	0.15608	0.918000	0.54935	1.779000	0.38624	0.843000	0.35070	0.477000	0.44152	TTT	RIMS1	-	NULL	ENSG00000079841		0.343	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	97	0	T			72975164	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.107	G
RNPEP	6051	genome.wustl.edu	37	1	201965370	201965370	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:201965370T>A	ENST00000295640.4	+	4	876	c.833T>A	c.(832-834)tTt>tAt	p.F278Y	RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	278					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAGAAGCTTTTTGGACCTTAT	0.488																																					GBM(19;39 479 7473 13131 19462)												0													289.0	268.0	275.0					1																	201965370		2203	4300	6503	SO:0001583	missense	0			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.833T>A	1.37:g.201965370T>A	ENSP00000295640:p.Phe278Tyr		Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.F278Y	ENST00000295640.4	37	c.833	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727113	0.30593	.	.	ENSG00000176393	ENST00000295640;ENST00000447312;ENST00000449524	T;T;T	0.07114	3.22;3.22;3.22	5.15	5.15	0.70609	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.11707	0.0285	L	0.38838	1.175	0.80722	D	1	P;P	0.41080	0.504;0.737	P;P	0.51415	0.557;0.669	T	0.03068	-1.1076	10	0.02654	T	1	-22.7271	13.9609	0.64177	0.0:0.0:0.0:1.0	.	286;278	Q7RU04;Q9H4A4	.;AMPB_HUMAN	Y	278;147;24	ENSP00000295640:F278Y;ENSP00000389602:F147Y;ENSP00000407614:F24Y	ENSP00000295640:F278Y	F	+	2	0	RNPEP	200231993	1.000000	0.71417	0.605000	0.28930	0.945000	0.59286	7.420000	0.80191	1.911000	0.55334	0.533000	0.62120	TTT	RNPEP	-	pfam_Peptidase_M1_N	ENSG00000176393		0.488	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1		0.00	69	0	T	NM_020216		201965370	+1			no_errors	ENST00000295640	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A
ROBO2	6092	genome.wustl.edu	37	3	77600026	77600026	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:77600026A>T	ENST00000461745.1	+	8	2017	c.1117A>T	c.(1117-1119)Act>Tct	p.T373S	ROBO2_ENST00000487694.3_Missense_Mutation_p.T389S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T373S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	373	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTGTCACCAACTGGAGACCT	0.463																																																	0													92.0	91.0	92.0					3																	77600026		1952	4145	6097	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1117A>T	3.37:g.77600026A>T	ENSP00000417164:p.Thr373Ser		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T373S	ENST00000461745.1	37	c.1117	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	A	9.236	1.036976	0.19669	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.66995	-0.24;-0.24;-0.24	5.35	4.18	0.49190	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.335013	0.21535	N	0.072996	T	0.43033	0.1229	N	0.11154	0.105	0.39391	D	0.966423	B;B;B	0.10296	0.003;0.0;0.003	B;B;B	0.18871	0.023;0.003;0.023	T	0.42899	-0.9424	9	0.06891	T	0.86	.	11.5373	0.50645	0.929:0.0:0.071:0.0	.	389;373;373	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	S	389;389;393;373;373;94	ENSP00000417335:T389S;ENSP00000417164:T373S;ENSP00000327536:T373S	ENSP00000327536:T373S	T	+	1	0	ROBO2	77682716	1.000000	0.71417	0.783000	0.31826	0.529000	0.34654	4.467000	0.60155	0.971000	0.38288	0.402000	0.26972	ACT	ROBO2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000185008		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0.00	69	0	A	XM_031246		77600026	+1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	65.15	23	43	SNP	1.000	T
ROCK1P1	727758	genome.wustl.edu	37	18	121145	121147	+	RNA	DEL	TTG	TTG	-	rs201987631|rs60788647|rs199838600		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:121145_121147delTTG	ENST00000608049.1	+	0	1383_1385					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		AACTGAAGTTTTGTTTTTTTTTT	0.355																																																	0																																												0					18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.121145_121147delTTG				RNA	DEL	-	NULL	ENST00000608049.1	37	NULL		18																																																																																			ROCK1P1	-	-	ENSG00000263006		0.355	ROCK1P1-003	KNOWN	basic	processed_transcript	ROCK1P1	HGNC	pseudogene	OTTHUMT00000472417.1		0.00	26	0	TTG			121147	+1	tier1		no_errors	ENST00000608049	ensembl	human	known	74_37	rna	14.71	29	5	DEL	0.605:0.625:0.630	-
RPSAP58	388524	genome.wustl.edu	37	19	24010155	24010155	+	Silent	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:24010155T>A	ENST00000496398.1	+	4	615	c.192T>A	c.(190-192)gcT>gcA	p.A64A	RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Silent_p.A64A|RP11-255H23.2_ENST00000471224.1_RNA					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CAGCTCGTGCTATTGTTGCCA	0.473																																																	0																																										SO:0001819	synonymous_variant	0					19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.192T>A	19.37:g.24010155T>A				Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc	p.A64	ENST00000496398.1	37	c.192		19																																																																																			RPSAP58	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc	ENSG00000205246		0.473	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	RPSAP58	HGNC	protein_coding	OTTHUMT00000350238.1		0.00	50	0	T	NR_003662		24010155	+1			no_errors	ENST00000354585	ensembl	human	known	74_37	silent	14.00	43	7	SNP	1.000	A
RPSAP58	388524	genome.wustl.edu	37	19	24010482	24010482	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:24010482G>A	ENST00000496398.1	+	4	942	c.519G>A	c.(517-519)ttG>ttA	p.L173L	RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Silent_p.L173L|RP11-255H23.2_ENST00000471224.1_RNA					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CAGTGGGTTTGATGTGGTGGA	0.522																																																	0																																										SO:0001819	synonymous_variant	0					19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.519G>A	19.37:g.24010482G>A				Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc	p.L173	ENST00000496398.1	37	c.519		19																																																																																			RPSAP58	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc	ENSG00000205246		0.522	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	RPSAP58	HGNC	protein_coding	OTTHUMT00000350238.1	-	0.00	43	0	G	NR_003662		24010482	+1	tier1	-	no_errors	ENST00000354585	ensembl	human	known	74_37	silent	15.62	54	10	SNP	0.998	A
RTKN2	219790	genome.wustl.edu	37	10	64022582	64022583	+	Splice_Site	INS	-	-	A	rs149410563		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:64022582_64022583insA	ENST00000373789.3	-	2	157		c.e2-2		RTKN2_ENST00000395260.3_Splice_Site|RTKN2_ENST00000395265.1_Splice_Site	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2						hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTGCAGTCCTAAAAAAAAAAT	0.302																																																	0																																										SO:0001630	splice_region_variant	0			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.61-2->T	10.37:g.64022592_64022592dupA			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Splice_Site	INS	-	e2-2	ENST00000373789.3	37	c.61-3_61-2	CCDS7263.1	10																																																																																			RTKN2	-	-	ENSG00000182010		0.302	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1		0.00	44	0	-	NM_145307	Intron	64022583	-1	tier1		no_errors	ENST00000373789	ensembl	human	known	74_37	splice_site_ins	15.62	27	5	INS	1.000:0.881	A
RTP2	344892	genome.wustl.edu	37	3	187416659	187416659	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:187416659G>A	ENST00000358241.1	-	2	733	c.305C>T	c.(304-306)gCg>gTg	p.A102V		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	102					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GTCCAGCCGCGCCGTGCCGCA	0.647																																																	0													24.0	22.0	23.0					3																	187416659		2200	4273	6473	SO:0001583	missense	0			AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.305C>T	3.37:g.187416659G>A	ENSP00000350976:p.Ala102Val		Q6NVH4	Missense_Mutation	SNP	NULL	p.A102V	ENST00000358241.1	37	c.305	CCDS33911.1	3	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051447	0.55218	.	.	ENSG00000198471	ENST00000358241	T	0.23147	1.92	4.17	4.17	0.49024	.	0.286088	0.37857	N	0.001907	T	0.23688	0.0573	L	0.42245	1.32	0.26185	N	0.979661	P	0.42248	0.774	B	0.40901	0.343	T	0.14035	-1.0487	10	0.49607	T	0.09	-16.6618	12.2956	0.54844	0.0:0.0:1.0:0.0	.	102	Q5QGT7	RTP2_HUMAN	V	102	ENSP00000350976:A102V	ENSP00000350976:A102V	A	-	2	0	RTP2	188899353	0.420000	0.25457	0.999000	0.59377	0.346000	0.29079	2.897000	0.48664	2.621000	0.88768	0.563000	0.77884	GCG	RTP2	-	NULL	ENSG00000198471		0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP2	HGNC	protein_coding	OTTHUMT00000344259.1	-	0.00	32	0	G	NM_001004312		187416659	-1	tier1	-	no_errors	ENST00000358241	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.998	A
RUFY4	285180	genome.wustl.edu	37	2	218940110	218940110	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:218940110G>A	ENST00000344321.7	+	9	1413	c.895G>A	c.(895-897)Ggg>Agg	p.G299R	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.G319R	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	299							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCAGGGACAGGGGAAGGGGGC	0.587																																																	0													29.0	28.0	28.0					2																	218940110		1948	4154	6102	SO:0001583	missense	0			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.895G>A	2.37:g.218940110G>A	ENSP00000345900:p.Gly299Arg		Q6ZR96	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.G319R	ENST00000344321.7	37	c.955		2	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504748	0.26949	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.40225	1.65;1.04	4.46	-5.71	0.02413	.	0.814245	0.10668	N	0.647900	T	0.18215	0.0437	N	0.17082	0.46	0.09310	N	0.999997	B	0.21225	0.053	B	0.11329	0.006	T	0.27434	-1.0074	10	0.15066	T	0.55	-2.2036	5.9898	0.19454	0.4218:0.3883:0.1899:0.0	.	299	Q6ZNE9	RUFY4_HUMAN	R	299;319	ENSP00000345900:G299R;ENSP00000363270:G319R	ENSP00000345900:G299R	G	+	1	0	RUFY4	218648355	0.000000	0.05858	0.003000	0.11579	0.371000	0.29859	-0.021000	0.12504	-0.962000	0.03604	-0.373000	0.07131	GGG	RUFY4	-	NULL	ENSG00000188282		0.587	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	HGNC	protein_coding		-	0.00	49	0	G	NM_198483		218940110	+1	tier1	-	no_errors	ENST00000374155	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.001	A
RYR2	6262	genome.wustl.edu	37	1	237777985	237777985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:237777985G>T	ENST00000366574.2	+	37	5874	c.5557G>T	c.(5557-5559)Gaa>Taa	p.E1853*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1851*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1837*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1853	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E1851K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGTTTAAAGAAGCTGCCAC	0.517																																																	1	Substitution - Missense(1)	lung(1)											55.0	58.0	57.0					1																	237777985		1993	4188	6181	SO:0001587	stop_gained	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5557G>T	1.37:g.237777985G>T	ENSP00000355533:p.Glu1853*		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E1851*	ENST00000366574.2	37	c.5551	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.625829	0.99683	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.62	5.62	0.85841	.	0.184624	0.32719	N	0.005738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	.	.	.	X	1853;1851;1837	.	ENSP00000353174:E1851X	E	+	1	0	RYR2	235844608	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.901000	0.87382	2.665000	0.90641	0.650000	0.86243	GAA	RYR2	-	NULL	ENSG00000198626		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0.00	17	0	G	NM_001035		237777985	+1			no_errors	ENST00000360064	ensembl	human	known	74_37	nonsense	14.29	18	3	SNP	1.000	T
S1PR4	8698	genome.wustl.edu	37	19	3179262	3179262	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:3179262A>T	ENST00000246115.3	+	1	527	c.472A>T	c.(472-474)Aag>Tag	p.K158*	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	158					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGGGGCCACCAAGACCAGCCG	0.682																																					GBM(82;318 1638 33279 49708)												0													36.0	42.0	40.0					19																	3179262		2165	4252	6417	SO:0001587	stop_gained	0			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.472A>T	19.37:g.3179262A>T	ENSP00000246115:p.Lys158*		D6W612	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn	p.K158*	ENST00000246115.3	37	c.472	CCDS12105.1	19	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704711	0.68615	.	.	ENSG00000125910	ENST00000246115	.	.	.	4.17	4.17	0.49024	.	0.379497	0.25786	N	0.028313	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	12.346	0.55122	1.0:0.0:0.0:0.0	.	.	.	.	X	158	.	ENSP00000246115:K158X	K	+	1	0	S1PR4	3130262	1.000000	0.71417	0.300000	0.25030	0.096000	0.18686	5.801000	0.69115	1.660000	0.50760	0.379000	0.24179	AAG	S1PR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt	ENSG00000125910		0.682	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR4	HGNC	protein_coding	OTTHUMT00000452517.1	-	0.00	55	0	A	NM_003775		3179262	+1	tier1	-	no_errors	ENST00000246115	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.988	T
SACS	26278	genome.wustl.edu	37	13	23915370	23915370	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:23915370T>G	ENST00000382292.3	-	9	2918	c.2645A>C	c.(2644-2646)aAg>aCg	p.K882T	SACS_ENST00000382298.3_Missense_Mutation_p.K882T|SACS_ENST00000402364.1_Missense_Mutation_p.K132T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	882					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAATGGCATCTTCTCCATTAT	0.368																																																	0													118.0	119.0	119.0					13																	23915370		2203	4300	6503	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2645A>C	13.37:g.23915370T>G	ENSP00000371729:p.Lys882Thr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.K882T	ENST00000382292.3	37	c.2645	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761103	0.49468	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87966	-2.18;-2.32;-2.18	6.05	3.71	0.42584	.	0.099920	0.64402	D	0.000002	T	0.76828	0.4042	L	0.27053	0.805	0.31547	N	0.659256	B	0.12630	0.006	B	0.12156	0.007	T	0.71820	-0.4477	10	0.28530	T	0.3	.	9.0314	0.36260	0.0:0.1806:0.0:0.8194	.	882	Q9NZJ4	SACS_HUMAN	T	882;132;882	ENSP00000371729:K882T;ENSP00000385844:K132T;ENSP00000371735:K882T	ENSP00000371729:K882T	K	-	2	0	SACS	22813370	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.568000	0.45965	2.320000	0.78422	0.528000	0.53228	AAG	SACS	-	NULL	ENSG00000151835		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0.00	80	0	T	NM_014363		23915370	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	65.15	23	43	SNP	1.000	G
SAMD4A	23034	genome.wustl.edu	37	14	55255674	55255674	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:55255674G>A	ENST00000554335.1	+	0	2832				SAMD4A_ENST00000555192.1_3'UTR|SAMD4A_ENST00000392067.3_3'UTR|SAMD4A_ENST00000251091.5_3'UTR|SAMD4A_ENST00000357634.3_3'UTR			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A						negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGCTGAAGACGAGAGTGACCG	0.552																																																	0													120.0	88.0	99.0					14																	55255674		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.*12G>A	14.37:g.55255674G>A			A8MPZ5|Q0VA96|Q6PEW4	RNA	SNP	-	NULL	ENST00000554335.1	37	NULL	CCDS32084.2	14																																																																																			SAMD4A	-	-	ENSG00000020577		0.552	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	-	0.00	46	0	G	NM_015589		55255674	+1	tier1	-	no_errors	ENST00000553988	ensembl	human	known	74_37	rna	47.06	27	24	SNP	0.947	A
SASS6	163786	genome.wustl.edu	37	1	100573416	100573416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:100573416G>A	ENST00000287482.5	-	9	1146	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	SASS6_ENST00000535161.1_Nonsense_Mutation_p.Q169*|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	336					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		AAAACAAGCTGGTCCTTATCC	0.323																																																	0													110.0	108.0	108.0					1																	100573416		2203	4300	6503	SO:0001587	stop_gained	0			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1006C>T	1.37:g.100573416G>A	ENSP00000287482:p.Gln336*		D3DT55|Q8N3K0	Nonsense_Mutation	SNP	NULL	p.Q336*	ENST00000287482.5	37	c.1006	CCDS764.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.646335	0.98899	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	.	.	.	5.86	5.86	0.93980	.	0.052866	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-12.5026	20.1813	0.98205	0.0:0.0:1.0:0.0	.	.	.	.	X	336;309;169	.	ENSP00000287482:Q336X	Q	-	1	0	SASS6	100346004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.322000	0.79097	2.763000	0.94921	0.585000	0.79938	CAG	SASS6	-	NULL	ENSG00000156876		0.323	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	-	0.00	37	0	G	NM_194292		100573416	-1	tier1	-	no_errors	ENST00000287482	ensembl	human	known	74_37	nonsense	23.08	20	6	SNP	1.000	A
SBF1	6305	genome.wustl.edu	37	22	50894818	50894818	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr22:50894818G>A	ENST00000390679.3	-	30	4199	c.4015C>T	c.(4015-4017)Cgg>Tgg	p.R1339W	SBF1_ENST00000380817.3_Missense_Mutation_p.R1365W|SBF1_ENST00000348911.6_Missense_Mutation_p.R1340W|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1339	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTCTGACCGCACACCCTGA	0.637																																																	0													36.0	39.0	38.0					22																	50894818		2026	4174	6200	SO:0001583	missense	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4015C>T	22.37:g.50894818G>A	ENSP00000375097:p.Arg1339Trp		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.R1365W	ENST00000390679.3	37	c.4093		22	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476005	0.63737	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.93133	-3.17;-3.17;-3.17	5.02	3.96	0.45880	Myotubularin phosphatase domain (1);	0.299003	0.31784	N	0.007064	D	0.90542	0.7036	L	0.43152	1.355	0.37396	D	0.912624	P;P	0.52842	0.914;0.956	P;P	0.46049	0.453;0.502	D	0.92067	0.5661	10	0.87932	D	0	.	10.6744	0.45776	0.0:0.0:0.6425:0.3575	.	1339;1365	O95248;O95248-4	MTMR5_HUMAN;.	W	1365;1340;1375;1339	ENSP00000370196:R1365W;ENSP00000252027:R1340W;ENSP00000375097:R1339W	ENSP00000336522:R1375W	R	-	1	2	SBF1	49241684	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	5.175000	0.65021	2.640000	0.89533	0.555000	0.69702	CGG	SBF1	-	NULL	ENSG00000100241		0.637	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding			0.00	56	0	G			50894818	-1			no_errors	ENST00000380817	ensembl	human	known	74_37	missense	5.56	50	3	SNP	1.000	A
SCAMP1	9522	genome.wustl.edu	37	5	77772628	77772628	+	3'UTR	DEL	A	A	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:77772628delA	ENST00000339292.4	+	0	2242				SCAMP1_ENST00000538629.1_3'UTR			O15126	SCAM1_HUMAN	secretory carrier membrane protein 1						endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TTCCAGCAATAAAAAAAAAAG	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000339292.4:c.*2239A>-	5.37:g.77772628delA			O43587|Q6FG23|Q96BX1|Q96QK5	RNA	DEL	-	NULL	ENST00000339292.4	37	NULL		5																																																																																			SCAMP1	-	-	ENSG00000085365		0.308	SCAMP1-001	KNOWN	sequence_error|basic|exp_conf	processed_transcript	SCAMP1	HGNC	protein_coding	OTTHUMT00000369096.2		0.00	31	0	A	NM_004866		77772628	+1	tier1		no_errors	ENST00000320280	ensembl	human	known	74_37	rna	33.33	8	4	DEL	0.109	-
BNIP3L	665	genome.wustl.edu	37	8	26237442	26237442	+	5'Flank	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:26237442G>A	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		TTCGCCATCGGCATCCTCCTC	0.468																																																	0																																										SO:0001631	upstream_gene_variant	0			AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26237442G>A	Exception_encountered		B0AZS9|Q5JW63|Q8NF87	RNA	SNP	-	NULL	ENST00000380629.2	37	NULL	CCDS6050.1	8																																																																																			SDAD1P1	-	-	ENSG00000228451		0.468	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1P1	HGNC	protein_coding	OTTHUMT00000216895.1	-	0.00	86	0	G	NM_004331		26237442	-1	tier1	-	no_errors	ENST00000519902	ensembl	human	known	74_37	rna	6.49	72	5	SNP	0.985	A
SEMA6B	10501	genome.wustl.edu	37	19	4552604	4552604	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:4552604G>T	ENST00000586582.1	-	10	1129	c.819C>A	c.(817-819)ggC>ggA	p.G273G	SEMA6B_ENST00000301293.3_Silent_p.G273G|SEMA6B_ENST00000586965.1_Silent_p.G273G	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	273	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGGGGGAGCCTCCCACGT	0.652																																																	0													34.0	30.0	31.0					19																	4552604		2202	4296	6498	SO:0001819	synonymous_variant	0			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.819C>A	19.37:g.4552604G>T			A5PKU4|F6IB19|Q9NRK9	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.G273	ENST00000586582.1	37	c.819	CCDS12131.1	19																																																																																			SEMA6B	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000167680		0.652	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2		0.00	100	0	G	NM_032108		4552604	-1			no_errors	ENST00000301293	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T
SERPINF2	5345	genome.wustl.edu	37	17	1651988	1651988	+	Missense_Mutation	SNP	G	G	A	rs144824741	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:1651988G>A	ENST00000324015.3	+	8	889	c.812G>A	c.(811-813)cGc>cAc	p.R271H	SERPINF2_ENST00000450523.2_Missense_Mutation_p.R207H|SERPINF2_ENST00000382061.4_Missense_Mutation_p.R271H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	271					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	ATGCAGGCCCGCACGTACCCG	0.612																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	101.0	102.0		812,812,620	-8.4	0.0	17	dbSNP_134	102	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense,missense	SERPINF2	NM_000934.3,NM_001165920.1,NM_001165921.1	29,29,29	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	benign,benign,benign	271/492,271/492,207/428	1651988	12,12994	2203	4300	6503	SO:0001583	missense	0			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.812G>A	17.37:g.1651988G>A	ENSP00000321853:p.Arg271His		B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R271H	ENST00000324015.3	37	c.812	CCDS11011.1	17	.	.	.	.	.	.	.	.	.	.	G	6.546	0.468969	0.12461	2.27E-4	0.001279	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000453723;ENST00000382061	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	4.95	-8.35	0.00984	Serpin domain (3);	1.066860	0.07143	N	0.847626	T	0.69333	0.3099	L	0.35644	1.08	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.53187	-0.8474	9	.	.	.	.	1.806	0.03081	0.6341:0.0858:0.1112:0.1688	.	207;271	B4E1B7;P08697	.;A2AP_HUMAN	H	271;207;155;271	ENSP00000321853:R271H;ENSP00000403877:R207H;ENSP00000402056:R155H;ENSP00000371493:R271H	.	R	+	2	0	SERPINF2	1598738	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.054000	0.11826	-1.847000	0.01173	-0.257000	0.10917	CGC	SERPINF2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000167711		0.612	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	HGNC	protein_coding	OTTHUMT00000207078.3	-	0.00	38	0	G	NM_000934		1651988	+1	tier1	rs144824741	no_errors	ENST00000324015	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.002	A
SH3BGRL	6451	genome.wustl.edu	37	X	80553062	80553062	+	3'UTR	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:80553062A>C	ENST00000373212.5	+	0	939				SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamate-rich protein like						positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				ACTTAAGTGTATCTGCAGCTC	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF042081	CCDS14449.1	Xq13.3	2014-02-19	2014-02-19		ENSG00000131171	ENSG00000131171			10823	protein-coding gene	gene with protein product		300190	"""SH3 domain binding glutamic acid-rich protein like"""			9642120	Standard	NM_003022		Approved	MGC117402	uc004eef.3	O75368	OTTHUMG00000021910	ENST00000373212.5:c.*336A>C	X.37:g.80553062A>C			Q3SYL1|Q5JT50|Q6FIE8|Q9H0N8	RNA	SNP	-	NULL	ENST00000373212.5	37	NULL	CCDS14449.1	X																																																																																			SH3BGRL	-	-	ENSG00000131171		0.363	SH3BGRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGRL	HGNC	protein_coding	OTTHUMT00000057350.1	-	0.00	22	0	A	NM_003022		80553062	+1	tier1	-	no_errors	ENST00000463546	ensembl	human	known	74_37	rna	37.50	10	6	SNP	0.000	C
SHANK2	22941	genome.wustl.edu	37	11	70507826	70507826	+	Intron	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:70507826G>A	ENST00000423696.2	-	6	753				SHANK2_ENST00000357171.3_Missense_Mutation_p.T16M|SHANK2_ENST00000409161.1_Missense_Mutation_p.T15M|SHANK2_ENST00000449116.2_Missense_Mutation_p.T16M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T16M|SHANK2_ENST00000409530.1_Missense_Mutation_p.T15M|SHANK2_ENST00000338508.4_Intron			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATTGTAGCCCGTCATCATCAC	0.542																																																	0													131.0	133.0	132.0					11																	70507826		2200	4294	6494	SO:0001627	intron_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.717-43C>T	11.37:g.70507826G>A			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.T16M	ENST00000423696.2	37	c.47		11	.	.	.	.	.	.	.	.	.	.	.	11.69	1.713520	0.30413	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000409530;ENST00000449116;ENST00000357171	T;T;T;T;T	0.56776	2.35;2.35;0.85;0.44;0.85	4.56	3.56	0.40772	.	.	.	.	.	T	0.26666	0.0652	N	0.08118	0	0.20873	N	0.999834	B;B	0.16396	0.017;0.007	B;B	0.09377	0.004;0.004	T	0.16364	-1.0405	9	0.49607	T	0.09	.	0.2499	0.00204	0.2179:0.1815:0.2799:0.3207	.	16;16	B7ZKU9;Q9UPX8-4	.;.	M	16;15;15;16;16	ENSP00000399423:T16M;ENSP00000386491:T15M;ENSP00000387324:T15M;ENSP00000394939:T16M;ENSP00000349694:T16M	ENSP00000349694:T16M	T	-	2	0	SHANK2	70185474	1.000000	0.71417	0.991000	0.47740	0.952000	0.60782	1.190000	0.32126	0.768000	0.33290	0.491000	0.48974	ACG	SHANK2	-	NULL	ENSG00000162105		0.542	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding			0.00	41	0	G	NM_012309		70507826	-1			no_errors	ENST00000449833	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A
SIGLEC14	100049587	genome.wustl.edu	37	19	52147165	52147165	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:52147165G>T	ENST00000360844.6	-	5	920	c.879C>A	c.(877-879)ctC>ctA	p.L293L	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	293	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGGAAGGATTGAGGGCTTTTC	0.612																																																	0													42.0	48.0	46.0					19																	52147165		1858	4046	5904	SO:0001819	synonymous_variant	0			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.879C>A	19.37:g.52147165G>T			Q6UXG0	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L293	ENST00000360844.6	37	c.879	CCDS42604.1	19																																																																																			SIGLEC14	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000254415		0.612	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	HGNC	protein_coding	OTTHUMT00000466899.2	-	0.00	46	0	G	NM_001098612		52147165	-1	tier1	-	no_errors	ENST00000360844	ensembl	human	known	74_37	silent	17.33	62	13	SNP	0.010	T
SIX3	6496	genome.wustl.edu	37	2	45169387	45169387	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:45169387C>T	ENST00000260653.3	+	1	486	c.144C>T	c.(142-144)agC>agT	p.S48S	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	48	Gly-rich. {ECO:0000255|PROSITE- ProRule:PRU00008}.				brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gaggcggcagcggcggcggga	0.746																																																	0													11.0	11.0	11.0					2																	45169387		1593	3508	5101	SO:0001819	synonymous_variant	0			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.144C>T	2.37:g.45169387C>T			D6W5A5|Q53T42	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S48	ENST00000260653.3	37	c.144	CCDS1821.1	2																																																																																			SIX3	-	NULL	ENSG00000138083		0.746	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1		0.00	22	0	C	NM_005413		45169387	+1			no_errors	ENST00000260653	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.997	T
SLAMF9	89886	genome.wustl.edu	37	1	159923408	159923408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:159923408C>A	ENST00000368093.3	-	2	198	c.82G>T	c.(82-84)Gag>Tag	p.E28*	SLAMF9_ENST00000368092.3_Nonsense_Mutation_p.E28*|SLAMF9_ENST00000466773.1_5'Flank	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	28	Ig-like V-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCACTTCCTCGGATCCACAC	0.527																																																	0													77.0	77.0	77.0					1																	159923408		2203	4300	6503	SO:0001587	stop_gained	0			AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.82G>T	1.37:g.159923408C>A	ENSP00000357072:p.Glu28*		Q5JRQ9|Q5JRR0|Q6UWG1	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like_dom	p.E28*	ENST00000368093.3	37	c.82	CCDS1191.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168449	0.78339	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	.	.	.	5.61	-1.18	0.09617	.	3.755740	0.00531	N	0.000209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.3392	4.6865	0.12760	0.0:0.3862:0.2816:0.3322	.	.	.	.	X	28	.	.	E	-	1	0	SLAMF9	158190032	0.000000	0.05858	0.030000	0.17652	0.157000	0.22087	-1.218000	0.02976	0.047000	0.15862	-0.140000	0.14226	GAG	SLAMF9	-	pfam_Ig_V-set	ENSG00000162723		0.527	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF9	HGNC	protein_coding	OTTHUMT00000060630.1		0.00	34	0	C	NM_033438		159923408	-1			no_errors	ENST00000368093	ensembl	human	known	74_37	nonsense	8.11	34	3	SNP	0.013	A
SLC12A7	10723	genome.wustl.edu	37	5	1065587	1065587	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:1065587G>A	ENST00000264930.5	-	18	2291	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	750					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATTAGGGACCGTATGTTCTGC	0.642																																																	0													46.0	46.0	46.0					5																	1065587		2203	4300	6503	SO:0001583	missense	0			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2248C>T	5.37:g.1065587G>A	ENSP00000264930:p.Arg750Trp		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R750W	ENST00000264930.5	37	c.2248	CCDS34129.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.66|12.66	2.004241|2.004241	0.35320|0.35320	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.92911|.	-3.13|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	0.071090|.	0.64402|.	D|.	0.000017|.	T|T	0.71779|0.71779	0.3380|0.3380	M|M	0.73962|0.73962	2.25|2.25	0.41225|0.41225	D|D	0.986537|0.986537	D|.	0.76494|.	0.999|.	P|.	0.58172|.	0.834|.	T|T	0.73291|0.73291	-0.4029|-0.4029	10|5	0.87932|.	D|.	0|.	.|.	11.8435|11.8435	0.52368|0.52368	0.0:0.0:0.8241:0.1759|0.0:0.0:0.8241:0.1759	.|.	750|.	Q9Y666|.	S12A7_HUMAN|.	W|M	750|107	ENSP00000264930:R750W|.	ENSP00000264930:R750W|.	R|T	-|-	1|2	2|0	SLC12A7|SLC12A7	1118587|1118587	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.056000|0.056000	0.15407|0.15407	2.862000|2.862000	0.48388|0.48388	2.055000|2.055000	0.61198|0.61198	0.467000|0.467000	0.42956|0.42956	CGG|ACG	SLC12A7	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	-	0.00	52	0	G	NM_006598		1065587	-1	tier1	-	no_errors	ENST00000264930	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.987	A
SLC1A2	6506	genome.wustl.edu	37	11	35308439	35308439	+	Missense_Mutation	SNP	C	C	T	rs374504230		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:35308439C>T	ENST00000278379.3	-	8	1433	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	SLC1A2_ENST00000395753.1_Missense_Mutation_p.R375H|SLC1A2_ENST00000395750.1_Missense_Mutation_p.R375H|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000606205.1_Missense_Mutation_p.R384H|SLC1A2_ENST00000479543.1_5'Flank	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	384					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TCTAGTCACACGCTTATCAAT	0.463																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												0								C	HIS/ARG,HIS/ARG	0,4404		0,0,2202	193.0	182.0	185.0		1124,1151	5.6	1.0	11		185	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	SLC1A2	NM_001195728.1,NM_004171.3	29,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	375/566,384/575	35308439	1,12999	2202	4298	6500	SO:0001583	missense	0			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1151G>A	11.37:g.35308439C>T	ENSP00000278379:p.Arg384His		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R384H	ENST00000278379.3	37	c.1151	CCDS31459.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.551747|5.551747	0.96501|0.96501	0.0|0.0	1.16E-4|1.16E-4	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.59772|.	0.24;0.24;0.24|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81936|0.81936	0.4928|0.4928	M|M	0.80028|0.80028	2.48|2.48	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	T|T	0.81360|0.81360	-0.0968|-0.0968	10|5	0.52906|.	T|.	0.07|.	-11.0153|-11.0153	20.024|20.024	0.97514|0.97514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	384;384|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	H|M	384;375;375|102	ENSP00000278379:R384H;ENSP00000379099:R375H;ENSP00000379102:R375H|.	ENSP00000278379:R384H|.	R|V	-|-	2|1	0|0	SLC1A2|SLC1A2	35265015|35265015	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.918000|0.918000	0.54935|0.54935	7.776000|7.776000	0.85560|0.85560	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	CGT|GTG	SLC1A2	-	pfam_Na-dicarboxylate_symporter	ENSG00000110436		0.463	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	SLC1A2	HGNC	protein_coding	OTTHUMT00000258181.1	-	0.00	32	0	C	NM_004171		35308439	-1	tier1	-	no_errors	ENST00000278379	ensembl	human	known	74_37	missense	60.29	27	41	SNP	1.000	T
SLC22A14	9389	genome.wustl.edu	37	3	38348012	38348012	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:38348012G>T	ENST00000273173.4	+	1	586	c.495G>T	c.(493-495)aaG>aaT	p.K165N	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.K165N	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	165					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.K165N(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGACGCTAAGAAGCGATCGC	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											119.0	108.0	112.0					3																	38348012		2203	4300	6503	SO:0001583	missense	0			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.495G>T	3.37:g.38348012G>T	ENSP00000273173:p.Lys165Asn		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K165N	ENST00000273173.4	37	c.495	CCDS2677.1	3	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774719	0.49786	.	.	ENSG00000144671	ENST00000466887;ENST00000448498;ENST00000423219;ENST00000273173	T;T;T	0.66638	-0.22;0.02;0.02	5.06	0.79	0.18613	Major facilitator superfamily domain (1);	0.760161	0.13229	N	0.403775	T	0.63885	0.2549	L	0.55213	1.73	0.09310	N	1	P	0.43662	0.814	P	0.47915	0.561	T	0.53005	-0.8499	10	0.39692	T	0.17	.	6.8334	0.23923	0.1679:0.2739:0.5583:0.0	.	165	Q9Y267	S22AE_HUMAN	N	33;165;165;165	ENSP00000442528:K33N;ENSP00000396283:K165N;ENSP00000273173:K165N	ENSP00000273173:K165N	K	+	3	2	SLC22A14	38323016	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.488000	0.22371	0.017000	0.15025	-0.345000	0.07892	AAG	SLC22A14	-	pfscan_MFS_dom	ENSG00000144671		0.498	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3		0.00	25	0	G	NM_004803		38348012	+1			no_errors	ENST00000273173	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.001	T
SLC26A8	116369	genome.wustl.edu	37	6	35922931	35922931	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:35922931G>T	ENST00000490799.1	-	17	2583	c.2230C>A	c.(2230-2232)Cag>Aag	p.Q744K	SLC26A8_ENST00000355574.2_Missense_Mutation_p.Q744K|SLC26A8_ENST00000394602.2_Missense_Mutation_p.Q639K	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTACTTACCTGTCTTAATACG	0.517																																																	0													99.0	92.0	94.0					6																	35922931		2203	4300	6503	SO:0001583	missense	0			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2230C>A	6.37:g.35922931G>T	ENSP00000417638:p.Gln744Lys			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.Q744K	ENST00000490799.1	37	c.2230	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223392	0.58668	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.87650	-2.28;-2.28;-2.28	4.68	4.68	0.58851	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.56097	D	0.000034	D	0.86024	0.5834	L	0.46885	1.475	0.41594	D	0.988814	D;P;D	0.71674	0.998;0.862;0.998	D;P;D	0.67103	0.949;0.606;0.941	T	0.82206	-0.0572	10	0.15066	T	0.55	.	13.2815	0.60216	0.0:0.0:1.0:0.0	.	744;639;326	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	K	744;639;744	ENSP00000417638:Q744K;ENSP00000378100:Q639K;ENSP00000347778:Q744K	ENSP00000347778:Q744K	Q	-	1	0	SLC26A8	36030909	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	3.522000	0.53480	2.599000	0.87857	0.655000	0.94253	CAG	SLC26A8	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	ENSG00000112053		0.517	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	-	0.00	41	0	G			35922931	-1	tier1	-	no_errors	ENST00000355574	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
SLC39A10	57181	genome.wustl.edu	37	2	196548620	196548620	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:196548620A>G	ENST00000409086.3	+	3	1481	c.1206A>G	c.(1204-1206)atA>atG	p.I402M	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Missense_Mutation_p.I402M	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	402					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AGGCAAATATAGGGGCATCAG	0.299																																																	0													52.0	56.0	55.0					2																	196548620		2203	4299	6502	SO:0001583	missense	0				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1206A>G	2.37:g.196548620A>G	ENSP00000386766:p.Ile402Met		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	pfam_ZIP	p.I402M	ENST00000409086.3	37	c.1206	CCDS33353.1	2	.	.	.	.	.	.	.	.	.	.	A	11.14	1.551670	0.27739	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.64991	-0.13;-0.13	4.86	-1.0	0.10196	.	1.130750	0.06309	N	0.702303	T	0.43545	0.1252	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.14392	-1.0474	10	0.36615	T	0.2	.	5.723	0.17998	0.4308:0.2722:0.0:0.297	.	402	Q9ULF5	S39AA_HUMAN	M	402	ENSP00000386766:I402M;ENSP00000352655:I402M	ENSP00000352655:I402M	I	+	3	3	SLC39A10	196256865	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	1.189000	0.32114	-0.314000	0.08716	0.477000	0.44152	ATA	SLC39A10	-	NULL	ENSG00000196950		0.299	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A10	HGNC	protein_coding	OTTHUMT00000335186.1	-	0.00	52	0	A	XM_047707		196548620	+1	tier1	-	no_errors	ENST00000359634	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.996	G
SLC39A6	25800	genome.wustl.edu	37	18	33706765	33706765	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:33706765G>T	ENST00000590986.1	-	2	495	c.206C>A	c.(205-207)tCt>tAt	p.S69Y	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Missense_Mutation_p.S69Y			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	69					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AACTGACAAAGAATTATTTTC	0.373																																																	0													139.0	130.0	133.0					18																	33706765		1855	4097	5952	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.206C>A	18.37:g.33706765G>T	ENSP00000465915:p.Ser69Tyr		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.S69Y	ENST00000590986.1	37	c.206	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359045	0.41801	.	.	ENSG00000141424	ENST00000269187	T	0.25579	1.79	5.23	4.35	0.52113	.	0.125489	0.53938	D	0.000045	T	0.23410	0.0566	L	0.48642	1.525	0.80722	D	1	B	0.30406	0.278	B	0.27715	0.082	T	0.04565	-1.0942	10	0.66056	D	0.02	-4.8505	11.8309	0.52295	0.0866:0.0:0.9133:0.0	.	69	Q13433	S39A6_HUMAN	Y	69	ENSP00000269187:S69Y	ENSP00000269187:S69Y	S	-	2	0	SLC39A6	31960763	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	5.461000	0.66699	1.195000	0.43115	0.561000	0.74099	TCT	SLC39A6	-	NULL	ENSG00000141424		0.373	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	-	0.00	79	0	G			33706765	-1	tier1	-	no_errors	ENST00000269187	ensembl	human	known	74_37	missense	41.07	33	23	SNP	1.000	T
SLC6A5	9152	genome.wustl.edu	37	11	20623034	20623034	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:20623034G>T	ENST00000525748.1	+	2	636	c.363G>T	c.(361-363)aaG>aaT	p.K121N		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	121					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCACTGTAAGATCCCTTTTC	0.672																																																	0													54.0	54.0	54.0					11																	20623034		2203	4300	6503	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.363G>T	11.37:g.20623034G>T	ENSP00000434364:p.Lys121Asn		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.K121N	ENST00000525748.1	37	c.363	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295422	0.60086	.	.	ENSG00000165970	ENST00000525748	T	0.73152	-0.72	5.7	3.81	0.43845	.	1.562850	0.03004	N	0.148597	T	0.58793	0.2147	N	0.14661	0.345	0.35803	D	0.823298	B	0.23058	0.079	B	0.20384	0.029	T	0.53165	-0.8477	10	0.72032	D	0.01	.	9.8455	0.41024	0.1696:0.0:0.8304:0.0	.	121	Q9Y345	SC6A5_HUMAN	N	121	ENSP00000434364:K121N	ENSP00000298923:K121N	K	+	3	2	SLC6A5	20579610	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	1.766000	0.38491	2.695000	0.91970	0.462000	0.41574	AAG	SLC6A5	-	NULL	ENSG00000165970		0.672	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	-	0.00	79	0	G	NM_004211		20623034	+1	tier1	-	no_errors	ENST00000525748	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.998	T
SLCO4C1	353189	genome.wustl.edu	37	5	101572654	101572654	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:101572654A>G	ENST00000310954.6	-	13	2369	c.2083T>C	c.(2083-2085)Tca>Cca	p.S695P		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCTGTGGCTGATGGAGGTGGT	0.333																																																	0													114.0	109.0	111.0					5																	101572654		2203	4300	6503	SO:0001583	missense	0			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.2083T>C	5.37:g.101572654A>G	ENSP00000309741:p.Ser695Pro			Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S695P	ENST00000310954.6	37	c.2083	CCDS34205.1	5	.	.	.	.	.	.	.	.	.	.	A	0.356	-0.942205	0.02322	.	.	ENSG00000173930	ENST00000310954	T	0.39592	1.07	5.08	-2.07	0.07276	.	2.644460	0.01317	N	0.010810	T	0.28699	0.0711	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10847	-1.0612	10	0.30854	T	0.27	.	6.4929	0.22125	0.5507:0.1263:0.323:0.0	.	695	Q6ZQN7	SO4C1_HUMAN	P	695	ENSP00000309741:S695P	ENSP00000309741:S695P	S	-	1	0	SLCO4C1	101600553	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.457000	0.06745	-0.905000	0.03871	-2.096000	0.00365	TCA	SLCO4C1	-	NULL	ENSG00000173930		0.333	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4C1	HGNC	protein_coding	OTTHUMT00000370332.1	-	0.00	79	0	A	NM_180991		101572654	-1	tier1	-	no_errors	ENST00000310954	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.001	G
SMARCA4	6597	genome.wustl.edu	37	19	11137009	11137009	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:11137009G>A	ENST00000429416.3	+	24	3483	c.3202G>A	c.(3202-3204)Ggc>Agc	p.G1068S	SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068S|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1068S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1068					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GTTCACTGGCGGCATTGTCCA	0.597			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											82.0	69.0	73.0					19																	11137009		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3202G>A	19.37:g.11137009G>A	ENSP00000395654:p.Gly1068Ser		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	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,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.G1068S	ENST00000429416.3	37	c.3202	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086456	0.55861	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	4.49	4.49	0.54785	.	0.060357	0.64402	D	0.000003	T	0.71962	0.3402	M	0.70108	2.13	0.58432	D	0.999996	B;P;B;B;P;P;B;B	0.43857	0.449;0.635;0.449;0.152;0.819;0.718;0.152;0.152	B;B;B;B;B;B;B;B	0.36335	0.103;0.137;0.103;0.044;0.222;0.158;0.065;0.065	T	0.79022	-0.1973	10	0.66056	D	0.02	-29.5641	16.1707	0.81812	0.0:0.0:1.0:0.0	.	1068;1068;1068;1068;1068;288;1068;1068	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	S	1068;1068;1132;1068;1068;1068;1068;1068	ENSP00000395654:G1068S;ENSP00000350720:G1068S;ENSP00000343896:G1068S;ENSP00000445036:G1068S;ENSP00000392837:G1068S;ENSP00000397783:G1068S;ENSP00000414727:G1068S	ENSP00000343896:G1068S	G	+	1	0	SMARCA4	10998009	1.000000	0.71417	0.975000	0.42487	0.502000	0.33828	7.332000	0.79203	2.351000	0.79841	0.555000	0.69702	GGC	SMARCA4	-	superfamily_P-loop_NTPase	ENSG00000127616		0.597	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0.00	63	0	G	NM_003072		11137009	+1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	69.23	12	27	SNP	1.000	A
SMIM1	388588	genome.wustl.edu	37	1	3691977	3691977	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:3691977G>A	ENST00000444870.2	+	3	288	c.40G>A	c.(40-42)Gag>Aag	p.E14K	SMIM1_ENST00000561886.1_Missense_Mutation_p.E14K	NM_001163724.1	NP_001157196.1	B2RUZ4	SMIM1_HUMAN	small integral membrane protein 1 (Vel blood group)	14						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TAGTAGGTGGGAGGACGGCAG	0.682																																																	0													37.0	42.0	41.0					1																	3691977		692	1591	2283	SO:0001583	missense	0				CCDS57966.1	1p36.32	2014-07-18	2014-01-02		ENSG00000235169	ENSG00000235169		"""Blood group antigens"""	44204	protein-coding gene	gene with protein product		615242	"""small integral membrane protein 1"""			23505126, 23563606, 23563608	Standard	NM_001163724		Approved	Vel	uc001akw.4	B2RUZ4	OTTHUMG00000003505	ENST00000444870.2:c.40G>A	1.37:g.3691977G>A	ENSP00000457386:p.Glu14Lys			Missense_Mutation	SNP	NULL	p.E14K	ENST00000444870.2	37	c.40	CCDS57966.1	1																																																																																			SMIM1	-	NULL	ENSG00000235169		0.682	SMIM1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SMIM1	HGNC	protein_coding	OTTHUMT00000009742.2	-	0.00	90	0	G	NM_001163724		3691977	+1	tier1	-	no_errors	ENST00000561886	ensembl	human	putative	74_37	missense	6.67	56	4	SNP	0.196	A
SNHG14	104472715	genome.wustl.edu	37	15	25324279	25324279	+	RNA	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:25324279T>A	ENST00000546682.1	+	0	0				SNORD116-13_ENST00000384408.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-14_ENST00000383894.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TACTATCATCTTAGTTGAACT	0.448																																																	0													170.0	160.0	163.0					15																	25324279		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25324279T>A				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-13	-	-	ENSG00000207137		0.448	SNHG14-022	KNOWN	basic	antisense	SNORD116-13	HGNC	processed_transcript	OTTHUMT00000408281.1	-	0.00	67	0	T			25324279	+1	tier1	-	no_errors	ENST00000384408	ensembl	human	known	74_37	rna	44.94	49	40	SNP	0.000	A
SPATA31A6	389730	genome.wustl.edu	37	9	43626718	43626718	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:43626718A>C	ENST00000332857.6	-	4	1997	c.1969T>G	c.(1969-1971)Ttc>Gtc	p.F657V	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	657					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTAGCTGGAACTTCACCTTC	0.557																																																	0													2.0	3.0	3.0					9																	43626718		387	1095	1482	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1969T>G	9.37:g.43626718A>C	ENSP00000329825:p.Phe657Val			Missense_Mutation	SNP	NULL	p.F657V	ENST00000332857.6	37	c.1969	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117155	0.20795	.	.	ENSG00000185775	ENST00000332857	T	0.06849	3.25	2.59	0.0361	0.14190	.	0.000000	0.39475	N	0.001355	T	0.07503	0.0189	M	0.64404	1.975	0.09310	N	1	B	0.29270	0.24	B	0.33042	0.157	T	0.33266	-0.9875	10	0.16896	T	0.51	-8.1905	2.8655	0.05600	0.5803:0.2659:0.1538:0.0	.	657	Q5VVP1	F75A6_HUMAN	V	657	ENSP00000329825:F657V	ENSP00000329825:F657V	F	-	1	0	FAM75A6	43566714	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.692000	0.05127	0.015000	0.14971	0.315000	0.21342	TTC	SPATA31A6	-	NULL	ENSG00000185775		0.557	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0.00	274	0	A	NM_001145196		43626718	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	44.53	70	57	SNP	0.000	C
SPECC1	92521	genome.wustl.edu	37	17	20013849	20013849	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:20013849C>T	ENST00000261503.5	+	3	308	c.257C>T	c.(256-258)aCg>aTg	p.T86M	SPECC1_ENST00000395529.3_Missense_Mutation_p.T86M|SPECC1_ENST00000395527.4_Missense_Mutation_p.T86M|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	86					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCGGAGCTCACGGAGAGCCGC	0.652																																																	0													27.0	30.0	29.0					17																	20013849		2203	4300	6503	SO:0001583	missense	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.257C>T	17.37:g.20013849C>T	ENSP00000261503:p.Thr86Met		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T86M	ENST00000261503.5	37	c.257	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569053	0.28003	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529	T;T	0.64618	-0.11;2.86	5.47	5.47	0.80525	.	0.590398	0.17737	N	0.163709	T	0.56001	0.1956	L	0.34521	1.04	0.80722	D	1	P;P	0.43519	0.809;0.589	B;B	0.40677	0.337;0.054	T	0.61108	-0.7129	10	0.62326	D	0.03	0.1999	17.2037	0.86913	0.0:1.0:0.0:0.0	.	86;86	Q5M775-2;Q5M775	.;CYTSB_HUMAN	M	86	ENSP00000261503:T86M;ENSP00000378900:T86M	ENSP00000261503:T86M	T	+	2	0	SPECC1	19954441	0.083000	0.21467	0.006000	0.13384	0.003000	0.03518	4.759000	0.62227	2.749000	0.94314	0.655000	0.94253	ACG	SPECC1	-	NULL	ENSG00000128487		0.652	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	-	0.00	26	0	C	NM_152904		20013849	+1	tier1	-	no_errors	ENST00000261503	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.026	T
SPRED1	161742	genome.wustl.edu	37	15	38545288	38545288	+	5'UTR	DEL	C	C	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:38545288delC	ENST00000299084.4	+	0	762				SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1						inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		Tgcccccgcgcccccccggcc	0.726									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0																																										SO:0001623	5_prime_UTR_variant	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.-99C>-	15.37:g.38545288delC			B2RPJ8|Q05D53|Q8N256	RNA	DEL	-	NULL	ENST00000299084.4	37	NULL	CCDS32193.1	15																																																																																			SPRED1	-	-	ENSG00000166068		0.726	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1		0.00	38	0	C			38545288	+1	tier1		no_errors	ENST00000561205	ensembl	human	known	74_37	rna	6.25	30	2	DEL	1.000	-
SRCIN1	80725	genome.wustl.edu	37	17	36701628	36701628	+	Intron	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:36701628G>A	ENST00000264659.7	-	18	3495				SRCIN1_ENST00000578925.1_Intron|SRCIN1_ENST00000398579.4_Intron	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1						exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGCGGGGAGGGAGGGTTGGGG	0.642																																																	0																																										SO:0001627	intron_variant	0				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3271-1424C>T	17.37:g.36701628G>A			Q75T46|Q8N4W8	RNA	SNP	-	NULL	ENST00000264659.7	37	NULL	CCDS45660.1	17																																																																																			SRCIN1	-	-	ENSG00000017373		0.642	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	HGNC	protein_coding	OTTHUMT00000441878.4	-	0.00	56	0	G	NM_025248		36701628	-1	tier1	-	no_errors	ENST00000584491	ensembl	human	known	74_37	rna	60.47	17	26	SNP	0.044	A
ST8SIA3	51046	genome.wustl.edu	37	18	55021680	55021680	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:55021680C>T	ENST00000324000.3	+	2	2261	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	76					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTGCCCATTACGAATTCTCTC	0.483																																																	0													139.0	131.0	133.0					18																	55021680		2203	4300	6503	SO:0001583	missense	0			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.227C>T	18.37:g.55021680C>T	ENSP00000320431:p.Thr76Met		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.T76M	ENST00000324000.3	37	c.227	CCDS32834.1	18	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880726	0.51801	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.48836	0.8	4.88	3.99	0.46301	.	0.254112	0.44902	D	0.000408	T	0.34279	0.0892	L	0.39898	1.24	0.42629	D	0.993372	P	0.36660	0.564	B	0.26517	0.07	T	0.17198	-1.0377	10	0.38643	T	0.18	-17.139	12.6714	0.56870	0.1657:0.8343:0.0:0.0	.	76	O43173	SIA8C_HUMAN	M	183;76	ENSP00000320431:T76M	ENSP00000320431:T76M	T	+	2	0	ST8SIA3	53172678	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.055000	0.64282	1.140000	0.42260	0.467000	0.42956	ACG	ST8SIA3	-	pirsf_Sialyl_trans	ENSG00000177511		0.483	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	-	0.00	81	0	C	NM_015879		55021680	+1	tier1	-	no_errors	ENST00000324000	ensembl	human	known	74_37	missense	35.29	33	18	SNP	1.000	T
STAB1	23166	genome.wustl.edu	37	3	52555008	52555008	+	Silent	SNP	C	C	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:52555008C>G	ENST00000321725.6	+	55	5971	c.5895C>G	c.(5893-5895)ggC>ggG	p.G1965G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1965					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCACTATGGCAGTGAGTGCC	0.597																																																	0													20.0	23.0	22.0					3																	52555008		2198	4298	6496	SO:0001819	synonymous_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5895C>G	3.37:g.52555008C>G			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G1965	ENST00000321725.6	37	c.5895	CCDS33768.1	3																																																																																			STAB1	-	NULL	ENSG00000010327		0.597	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2		0.00	53	0	C	NM_015136		52555008	+1			no_errors	ENST00000321725	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.825	G
STAMBP	10617	genome.wustl.edu	37	2	74071986	74071986	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:74071986G>T	ENST00000394070.2	+	3	753	c.250G>T	c.(250-252)Gtc>Ttc	p.V84F	STAMBP_ENST00000409707.1_Missense_Mutation_p.V84F|STAMBP_ENST00000394073.1_Missense_Mutation_p.V84F|STAMBP_ENST00000536064.1_Missense_Mutation_p.V84F|STAMBP_ENST00000339566.3_Missense_Mutation_p.V84F	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	84	Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CAAATCTGCTGTCATTCCTGA	0.373																																																	0													75.0	70.0	71.0					2																	74071986		2203	4300	6503	SO:0001583	missense	0			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.250G>T	2.37:g.74071986G>T	ENSP00000377633:p.Val84Phe		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.V84F	ENST00000394070.2	37	c.250	CCDS1929.1	2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209102	0.39003	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.45276	1.95;1.95;1.94;1.95;1.95;0.9	5.52	0.937	0.19494	.	0.553031	0.19319	N	0.117189	T	0.29061	0.0722	L	0.34521	1.04	0.33517	D	0.591916	B	0.24768	0.111	B	0.21546	0.035	T	0.24799	-1.0150	10	0.56958	D	0.05	-4.1637	8.5537	0.33467	0.5039:0.0:0.4961:0.0	.	84	O95630	STABP_HUMAN	F	84	ENSP00000344742:V84F;ENSP00000386548:V84F;ENSP00000413874:V84F;ENSP00000377636:V84F;ENSP00000377633:V84F;ENSP00000443502:V84F	ENSP00000344742:V84F	V	+	1	0	STAMBP	73925494	0.978000	0.34361	0.096000	0.21009	0.988000	0.76386	2.298000	0.43602	-0.013000	0.14199	0.650000	0.86243	GTC	STAMBP	-	NULL	ENSG00000124356		0.373	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2		0.00	57	0	G	NM_006463		74071986	+1			no_errors	ENST00000339566	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.943	T
STAM2	10254	genome.wustl.edu	37	2	152977200	152977200	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:152977200G>T	ENST00000263904.4	-	14	1815	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	489					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTTCTGATAAGATGACATATC	0.453																																																	0													183.0	153.0	163.0					2																	152977200		2203	4300	6503	SO:0001583	missense	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1466C>A	2.37:g.152977200G>T	ENSP00000263904:p.Ser489Tyr		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.S489Y	ENST00000263904.4	37	c.1466	CCDS2196.1	2	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846502	0.51164	.	.	ENSG00000115145	ENST00000263904	T	0.18016	2.24	5.71	3.91	0.45181	.	0.426572	0.25283	N	0.031800	T	0.13072	0.0317	N	0.24115	0.695	0.37831	D	0.928737	B	0.18310	0.027	B	0.28385	0.089	T	0.09487	-1.0672	10	0.41790	T	0.15	-12.6982	10.5423	0.45039	0.0693:0.0:0.7969:0.1338	.	489	O75886	STAM2_HUMAN	Y	489	ENSP00000263904:S489Y	ENSP00000263904:S489Y	S	-	2	0	STAM2	152685446	1.000000	0.71417	0.911000	0.35937	0.965000	0.64279	5.316000	0.65815	0.755000	0.32990	-0.169000	0.13324	TCT	STAM2	-	NULL	ENSG00000115145		0.453	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2		0.00	72	0	G	NM_005843		152977200	-1			no_errors	ENST00000263904	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
STAM2	10254	genome.wustl.edu	37	2	153000481	153000481	+	Silent	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:153000481T>A	ENST00000263904.4	-	7	913	c.564A>T	c.(562-564)acA>acT	p.T188T	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	188					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ATAAGGATTTTGTTTCTGTGT	0.303																																																	0													119.0	114.0	116.0					2																	153000481		2203	4299	6502	SO:0001819	synonymous_variant	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.564A>T	2.37:g.153000481T>A			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Silent	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.T188	ENST00000263904.4	37	c.564	CCDS2196.1	2																																																																																			STAM2	-	superfamily_SH3_domain	ENSG00000115145		0.303	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	-	0.00	52	0	T	NM_005843		153000481	-1	tier1	-	no_errors	ENST00000263904	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.999	A
STK10	6793	genome.wustl.edu	37	5	171479997	171479997	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:171479997G>T	ENST00000176763.5	-	18	3045	c.2702C>A	c.(2701-2703)gCc>gAc	p.A901D		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	901					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCATCCAGGGCCTTCAGTTT	0.547																																																	0													111.0	97.0	102.0					5																	171479997		2203	4300	6503	SO:0001583	missense	0			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2702C>A	5.37:g.171479997G>T	ENSP00000176763:p.Ala901Asp		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	pfam_PKK,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.A901D	ENST00000176763.5	37	c.2702	CCDS34290.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.37|14.37	2.516477|2.516477	0.44763|0.44763	.|.	.|.	ENSG00000072786|ENSG00000072786	ENST00000176763;ENST00000545839|ENST00000520476	T|.	0.67171|.	-0.25|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.497253|.	0.21178|.	N|.	0.078865|.	T|T	0.54382|0.54382	0.1855|0.1855	L|L	0.53249|0.53249	1.67|1.67	0.24985|0.24985	N|N	0.991575|0.991575	B|.	0.29936|.	0.262|.	B|.	0.29353|.	0.101|.	T|T	0.48703|0.48703	-0.9012|-0.9012	10|5	0.37606|.	T|.	0.19|.	.|.	15.4036|15.4036	0.74861|0.74861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	901|.	O94804|.	STK10_HUMAN|.	D|T	901|174	ENSP00000176763:A901D|.	ENSP00000176763:A901D|.	A|P	-|-	2|1	0|0	STK10|STK10	171412602|171412602	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	2.911000|2.911000	0.48774|0.48774	2.312000|2.312000	0.78011|0.78011	0.555000|0.555000	0.69702|0.69702	GCC|CCC	STK10	-	NULL	ENSG00000072786		0.547	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2		0.00	49	0	G	NM_005990		171479997	-1			no_errors	ENST00000176763	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.976	T
SYNE1	23345	genome.wustl.edu	37	6	152652462	152652462	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:152652462G>T	ENST00000367255.5	-	78	13959	c.13358C>A	c.(13357-13359)tCc>tAc	p.S4453Y	SYNE1_ENST00000423061.1_Missense_Mutation_p.S4382Y|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4382Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4453Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4453					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTTTTCTCGGACAAGGCTTT	0.478										HNSCC(10;0.0054)																																							0													101.0	93.0	96.0					6																	152652462		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13358C>A	6.37:g.152652462G>T	ENSP00000356224:p.Ser4453Tyr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4453Y	ENST00000367255.5	37	c.13358	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898331	0.52227	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.55760	0.59;0.6;0.5;0.59	5.84	5.84	0.93424	.	0.100130	0.44902	D	0.000408	T	0.65281	0.2676	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.996;0.998	D;P;P;D	0.67548	0.952;0.862;0.862;0.935	T	0.65590	-0.6131	10	0.66056	D	0.02	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	4453;4453;4453;4382	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	4453;4382;4453;4382	ENSP00000356224:S4453Y;ENSP00000396024:S4382Y;ENSP00000265368:S4453Y;ENSP00000390975:S4382Y	ENSP00000265368:S4453Y	S	-	2	0	SYNE1	152694155	1.000000	0.71417	0.995000	0.50966	0.827000	0.46813	9.869000	0.99810	2.760000	0.94817	0.655000	0.94253	TCC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0.00	23	0	G	NM_182961		152652462	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64591825	64591825	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:64591825G>T	ENST00000344113.4	+	71	13663	c.13451G>T	c.(13450-13452)aGc>aTc	p.S4484I	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.S869I|SYNE2_ENST00000394768.2_Missense_Mutation_p.S869I|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1118I|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4484I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4484					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTCTACCCAGCGTGACTATG	0.368																																																	0													103.0	99.0	100.0					14																	64591825		2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13451G>T	14.37:g.64591825G>T	ENSP00000341781:p.Ser4484Ile		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4484I	ENST00000344113.4	37	c.13451	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026679	0.35797	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.51574	0.7;3.99;0.7;4.05;3.99	5.84	3.84	0.44239	.	0.205227	0.33691	N	0.004653	T	0.34513	0.0900	L	0.27053	0.805	0.80722	D	1	B;P;P	0.41524	0.257;0.638;0.753	B;B;B	0.40534	0.271;0.178;0.332	T	0.17899	-1.0354	10	0.51188	T	0.08	.	9.7546	0.40496	0.1363:0.0:0.7387:0.125	.	869;4484;4484	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4484;869;4484;1118;869	ENSP00000350719:S4484I;ENSP00000349969:S869I;ENSP00000341781:S4484I;ENSP00000450831:S1118I;ENSP00000378249:S869I	ENSP00000341781:S4484I	S	+	2	0	SYNE2	63661578	1.000000	0.71417	0.998000	0.56505	0.139000	0.21198	2.211000	0.42825	1.474000	0.48178	0.643000	0.83706	AGC	SYNE2	-	NULL	ENSG00000054654		0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0.00	64	0	G	NM_182914		64591825	+1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	5.48	67	4	SNP	0.931	T
TACC2	10579	genome.wustl.edu	37	10	123846789	123846789	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:123846789G>A	ENST00000369005.1	+	4	5114	c.4774G>A	c.(4774-4776)Gac>Aac	p.D1592N	TACC2_ENST00000453444.2_Missense_Mutation_p.D1592N|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.D1592N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1592N|TACC2_ENST00000334433.3_Missense_Mutation_p.D1592N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1592					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.D1592Y(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGTGGCCCAAGACAGAATTCC	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											64.0	59.0	61.0					10																	123846789		2203	4300	6503	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4774G>A	10.37:g.123846789G>A	ENSP00000358001:p.Asp1592Asn		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.D1592N	ENST00000369005.1	37	c.4774	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246531	0.39697	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.05025	3.51;3.74;3.53;3.51;3.74	5.01	0.931	0.19460	.	0.474213	0.15732	N	0.247343	T	0.04092	0.0114	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14805	0.011;0.011;0.002	B;B;B	0.11329	0.006;0.006;0.003	T	0.37776	-0.9691	10	0.72032	D	0.01	-4.6369	5.1729	0.15120	0.2462:0.149:0.6047:0.0	.	1592;1592;1592	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	N	1592;1592;1592;1592;1592;1582	ENSP00000358001:D1592N;ENSP00000424467:D1592N;ENSP00000427618:D1592N;ENSP00000334280:D1592N;ENSP00000395048:D1592N	ENSP00000334280:D1592N	D	+	1	0	TACC2	123836779	0.002000	0.14202	0.000000	0.03702	0.146000	0.21551	0.601000	0.24119	-0.092000	0.12417	0.551000	0.68910	GAC	TACC2	-	NULL	ENSG00000138162		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0.00	21	0	G			123846789	+1			no_errors	ENST00000334433	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.000	A
TAOK1	57551	genome.wustl.edu	37	17	27805338	27805338	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:27805338delA	ENST00000261716.3	+	6	941	c.422delA	c.(421-423)tacfs	p.Y141fs	TAOK1_ENST00000536202.1_Frame_Shift_Del_p.Y141fs	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GGATTAGCCTACTTACATTCT	0.294																																																	0													105.0	110.0	108.0					17																	27805338		2203	4291	6494	SO:0001589	frameshift_variant	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.422delA	17.37:g.27805338delA	ENSP00000261716:p.Tyr141fs		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y141fs	ENST00000261716.3	37	c.422	CCDS32601.1	17																																																																																			TAOK1	-	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	ENSG00000160551		0.294	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1		0.00	46	0	A	NM_020791		27805338	+1	tier1		no_errors	ENST00000261716	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	1.000	-
TBC1D3	729873	genome.wustl.edu	37	17	36340138	36340138	+	Silent	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:36340138A>G	ENST00000354664.4	-	12	1045	c.889T>C	c.(889-891)Ttg>Ctg	p.L297L	TBC1D3_ENST00000339023.4_Intron|TBC1D3_ENST00000537432.1_Silent_p.L297L|TBC1D3_ENST00000519532.1_Silent_p.L275L	NM_001123391.2	NP_001116863.2	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3	297						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCGGCATCAACGCCTGTTCG	0.602																																																	0													2.0	2.0	2.0					17																	36340138		491	1095	1586	SO:0001819	synonymous_variant	0				CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000354664.4:c.889T>C	17.37:g.36340138A>G			A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L297	ENST00000354664.4	37	c.889	CCDS45658.1	17																																																																																			TBC1D3	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000197681		0.602	TBC1D3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D3	HGNC	protein_coding	OTTHUMT00000378681.1	-	0.00	20	0	A	NM_001123391		36340138	-1	tier1	-	no_errors	ENST00000354664	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.353	G
TCF4	6925	genome.wustl.edu	37	18	53017629	53017632	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	TGTC	TGTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:53017629_53017632delTGTC	ENST00000356073.4	-	8	1118_1121	c.507_510delGACA	c.(505-510)cagacafs	p.QT169fs	TCF4_ENST00000566279.1_Intron|TCF4_ENST00000564228.1_Frame_Shift_Del_p.QT98fs|TCF4_ENST00000566286.1_Frame_Shift_Del_p.QT167fs|TCF4_ENST00000540999.1_Frame_Shift_Del_p.QT145fs|TCF4_ENST00000570177.2_Frame_Shift_Del_p.QT39fs|TCF4_ENST00000537856.3_Frame_Shift_Del_p.QT39fs|TCF4_ENST00000568673.1_Frame_Shift_Del_p.QT145fs|TCF4_ENST00000537578.1_Frame_Shift_Del_p.QT145fs|TCF4_ENST00000398339.1_Frame_Shift_Del_p.QT271fs|TCF4_ENST00000544241.2_Frame_Shift_Del_p.QT98fs|TCF4_ENST00000564999.1_Frame_Shift_Del_p.QT169fs|TCF4_ENST00000543082.1_Frame_Shift_Del_p.QT127fs|TCF4_ENST00000354452.3_Frame_Shift_Del_p.QT169fs|TCF4_ENST00000561992.1_Frame_Shift_Del_p.QT39fs|TCF4_ENST00000564403.2_Frame_Shift_Del_p.QT169fs|TCF4_ENST00000565018.2_Frame_Shift_Del_p.QT169fs|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000568740.1_Frame_Shift_Del_p.QT144fs	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	169					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.K172fs*61(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAACTTTCTTTGTCTGTACCTCTG	0.368																																																	1	Deletion - Frameshift(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.507_510delGACA	18.37:g.53017629_53017632delTGTC	ENSP00000348374:p.Gln169fs		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T272fs	ENST00000356073.4	37	c.816_813	CCDS11960.1	18																																																																																			TCF4	-	NULL	ENSG00000196628		0.368	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1		0.00	39	0	TGTC	NM_003199		53017632	-1	tier1		no_errors	ENST00000398339	ensembl	human	known	74_37	frame_shift_del	53.12	15	17	DEL	1.000:1.000:1.000:1.000	-
TCTN2	79867	genome.wustl.edu	37	12	124171535	124171535	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:124171535C>T	ENST00000303372.5	+	6	845	c.717C>T	c.(715-717)tcC>tcT	p.S239S	TCTN2_ENST00000426174.2_Silent_p.S238S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	239					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GTGTGCAGTCCCCCCTTGCCA	0.562																																																	0													318.0	285.0	297.0					12																	124171535		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.717C>T	12.37:g.124171535C>T			A8K7Y8|B3KPW5|Q9H966	Silent	SNP	pfam_DUF1619	p.S239	ENST00000303372.5	37	c.717	CCDS9253.1	12																																																																																			TCTN2	-	pfam_DUF1619	ENSG00000168778		0.562	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	-	0.00	65	0	C	NM_024809		124171535	+1	tier1	-	no_errors	ENST00000303372	ensembl	human	known	74_37	silent	50.00	30	30	SNP	0.000	T
TESK2	10420	genome.wustl.edu	37	1	45813599	45813599	+	Missense_Mutation	SNP	G	G	T	rs536554780		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:45813599G>T	ENST00000372086.3	-	6	1014	c.614C>A	c.(613-615)cCc>cAc	p.P205H	TESK2_ENST00000341771.6_Missense_Mutation_p.P205H|TESK2_ENST00000538496.1_Missense_Mutation_p.P122H|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.P205H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCTGACATCGGGGATCTTCTC	0.542																																																	0													91.0	94.0	93.0					1																	45813599		1986	4165	6151	SO:0001583	missense	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.614C>A	1.37:g.45813599G>T	ENSP00000361158:p.Pro205His		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P205H	ENST00000372086.3	37	c.614	CCDS41323.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873527	0.91664	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	D;D;D;D	0.89270	-2.49;-1.6;-2.49;-1.6	5.79	5.79	0.91817	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.91229	0.7236	N	0.25647	0.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.90161	0.4228	10	0.36615	T	0.2	-11.4616	20.0349	0.97554	0.0:0.0:1.0:0.0	.	205;205	Q96S53-3;Q96S53	.;TESK2_HUMAN	H	205;205;189;205;122	ENSP00000361156:P205H;ENSP00000361158:P205H;ENSP00000343940:P205H;ENSP00000441746:P122H	ENSP00000343940:P205H	P	-	2	0	TESK2	45586186	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.580000	0.98207	2.741000	0.93983	0.585000	0.79938	CCC	TESK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000070759		0.542	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	-	0.00	50	0	G	NM_007170		45813599	-1	tier1	-	no_errors	ENST00000372086	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
TEX36	387718	genome.wustl.edu	37	10	127350461	127350461	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:127350461C>T	ENST00000368821.3	-	2	291	c.137G>A	c.(136-138)cGg>cAg	p.R46Q		NM_001128202.1	NP_001121674.1	Q5VZQ5	TEX36_HUMAN	testis expressed 36	46																	CTCCGCTTGCCGAGGCAAGTG	0.582																																																	0													108.0	92.0	97.0					10																	127350461		692	1591	2283	SO:0001583	missense	0				CCDS44493.1	10q26.13	2012-08-13	2012-08-13	2012-08-13	ENSG00000175018	ENSG00000175018			31653	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 122"""	C10orf122			Standard	NM_001128202		Approved	bA383C5.1	uc001lik.4	Q5VZQ5	OTTHUMG00000019229	ENST00000368821.3:c.137G>A	10.37:g.127350461C>T	ENSP00000357811:p.Arg46Gln		Q0P5T8	Missense_Mutation	SNP	NULL	p.R46Q	ENST00000368821.3	37	c.137	CCDS44493.1	10	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883135	0.17467	.	.	ENSG00000175018	ENST00000532135;ENST00000526819;ENST00000368821	T;T;T	0.41758	0.99;0.99;0.99	4.24	-4.45	0.03546	.	1.670660	0.03467	N	0.213050	T	0.35856	0.0946	L	0.45581	1.43	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.25847	-1.0120	10	0.23891	T	0.37	-1.0607	12.1909	0.54270	0.0:0.2433:0.0:0.7567	.	46;46	Q5VZQ5;E9PJL2	CJ122_HUMAN;.	Q	46	ENSP00000431764:R46Q;ENSP00000434299:R46Q;ENSP00000357811:R46Q	ENSP00000357811:R46Q	R	-	2	0	C10orf122	127340451	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.100000	0.03339	-1.090000	0.03069	0.563000	0.77884	CGG	TEX36	-	NULL	ENSG00000175018		0.582	TEX36-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TEX36	HGNC	protein_coding	OTTHUMT00000050915.1	-	0.00	96	0	C	NM_001128202		127350461	-1	tier1	-	no_errors	ENST00000368821	ensembl	human	known	74_37	missense	53.85	36	42	SNP	0.000	T
TICAM2	353376	genome.wustl.edu	37	5	114916264	114916264	+	Silent	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:114916264T>C	ENST00000427199.2	-	2	1131	c.690A>G	c.(688-690)caA>caG	p.Q230Q	TICAM2_ENST00000513729.1_5'Flank|TICAM2_ENST00000408996.4_Silent_p.Q399Q|TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Silent_p.Q399Q	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	230	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		TAAATTGTCTTTGTACCATAT	0.338																																																	0													68.0	68.0	68.0					5																	114916264		2202	4300	6502	SO:0001819	synonymous_variant	0			AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.690A>G	5.37:g.114916264T>C			B3Y698|Q6JUT2	Silent	SNP	pfam_GOLD,pfam_TIR_dom,superfamily_GOLD,superfamily_TIR_dom,pfscan_GOLD,pfscan_TIR_dom	p.Q399	ENST00000427199.2	37	c.1197	CCDS4119.1	5																																																																																			TICAM2	-	pfscan_TIR_dom	ENSG00000243414		0.338	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM2	HGNC	protein_coding	OTTHUMT00000338755.1		0.00	65	0	T	NM_021649		114916264	-1			no_errors	ENST00000408996	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.003	C
TIGD3	220359	genome.wustl.edu	37	11	65124020	65124020	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:65124020G>T	ENST00000309880.5	+	2	948	c.741G>T	c.(739-741)ttG>ttT	p.L247F		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	247	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TAGAGTGGTTGGCACAGTTTG	0.657																																																	0													69.0	76.0	74.0					11																	65124020		2201	4297	6498	SO:0001583	missense	0				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.741G>T	11.37:g.65124020G>T	ENSP00000308354:p.Leu247Phe			Missense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L247F	ENST00000309880.5	37	c.741	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432226	0.62844	.	.	ENSG00000173825	ENST00000309880	T	0.63744	-0.06	3.94	3.94	0.45596	.	.	.	.	.	T	0.72195	0.3430	L	0.59436	1.845	0.36890	D	0.889864	D	0.76494	0.999	D	0.83275	0.996	T	0.72207	-0.4360	9	0.25106	T	0.35	-14.0178	11.7425	0.51801	0.0:0.0:1.0:0.0	.	247	Q6B0B8	TIGD3_HUMAN	F	247	ENSP00000308354:L247F	ENSP00000308354:L247F	L	+	3	2	TIGD3	64880596	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	1.682000	0.37628	2.217000	0.71921	0.456000	0.33151	TTG	TIGD3	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000173825		0.657	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1		0.00	72	0	G	NM_145719		65124020	+1			no_errors	ENST00000309880	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
TIGD6	81789	genome.wustl.edu	37	5	149375696	149375696	+	Silent	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:149375696G>A	ENST00000296736.3	-	2	990	c.216C>T	c.(214-216)agC>agT	p.S72S	TIGD6_ENST00000515406.2_Silent_p.S72S	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	72	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CATAAAGAGCGCTCCTCATCC	0.438																																																	0													124.0	125.0	124.0					5																	149375696		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.216C>T	5.37:g.149375696G>A			B3KTZ8|Q96MQ4|Q9H0X7	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.S72	ENST00000296736.3	37	c.216	CCDS4301.1	5																																																																																			TIGD6	-	superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000164296		0.438	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1	-	0.00	38	0	G	NM_030953		149375696	-1	tier1	-	no_errors	ENST00000296736	ensembl	human	known	74_37	silent	35.71	18	10	SNP	0.047	A
TINAGL1	64129	genome.wustl.edu	37	1	32049126	32049126	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:32049126C>T	ENST00000271064.7	+	5	608	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000457433.2_Silent_p.L147L	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	178					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TCGCTACCGCCTGGGCACCAT	0.572																																																	0													120.0	93.0	102.0					1																	32049126		2203	4300	6503	SO:0001819	synonymous_variant	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.532C>T	1.37:g.32049126C>T			A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.L178	ENST00000271064.7	37	c.532	CCDS343.1	1																																																																																			TINAGL1	-	NULL	ENSG00000142910		0.572	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1	-	0.00	29	0	C	NM_022164		32049126	+1	tier1	-	no_errors	ENST00000271064	ensembl	human	known	74_37	silent	28.57	15	6	SNP	1.000	T
TLN1	7094	genome.wustl.edu	37	9	35713962	35713962	+	Silent	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:35713962T>C	ENST00000314888.9	-	25	3590	c.3237A>G	c.(3235-3237)ttA>ttG	p.L1079L	TLN1_ENST00000540444.1_Silent_p.L1079L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1079					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCCCCAGGTAAGGGTTTAA	0.468																																																	0													118.0	104.0	109.0					9																	35713962		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3237A>G	9.37:g.35713962T>C			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.L1079	ENST00000314888.9	37	c.3237	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin	ENSG00000137076		0.468	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	-	0.00	56	0	T	NM_006289		35713962	-1	tier1	-	no_errors	ENST00000314888	ensembl	human	known	74_37	silent	31.40	59	27	SNP	0.956	C
TLR2	7097	genome.wustl.edu	37	4	154625101	154625102	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:154625101_154625102insT	ENST00000260010.6	+	1	2450_2451	c.1042_1043insT	c.(1042-1044)gttfs	p.V348fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	348					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AAACAGTAAAGTTTTTCTGGTT	0.317																																																	0																																										SO:0001589	frameshift_variant	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1047dupT	4.37:g.154625106_154625106dupT	ENSP00000260010:p.Val348fs		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Frame_Shift_Ins	INS	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L350fs	ENST00000260010.6	37	c.1042_1043	CCDS3784.1	4																																																																																			TLR2	-	pirsf_Toll-like_receptor	ENSG00000137462		0.317	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1		0.00	59	0	-			154625102	+1	tier1		no_errors	ENST00000260010	ensembl	human	known	74_37	frame_shift_ins	23.33	23	7	INS	1.000:0.986	T
TLR6	10333	genome.wustl.edu	37	4	38829588	38829588	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:38829588C>T	ENST00000381950.1	-	1	1572	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	TLR6_ENST00000436693.2_Missense_Mutation_p.D503N			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	503					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAATTGTGATCAATGATCAAT	0.433																																																	0													54.0	60.0	58.0					4																	38829588		2202	4280	6482	SO:0001583	missense	0				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1507G>A	4.37:g.38829588C>T	ENSP00000371376:p.Asp503Asn		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D503N	ENST00000381950.1	37	c.1507	CCDS3446.1	4	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712849	0.48517	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.57595	0.39;0.39	4.97	2.11	0.27256	.	0.232389	0.36268	N	0.002697	T	0.45736	0.1357	N	0.12961	0.28	0.21473	N	0.999676	P	0.38922	0.651	P	0.52267	0.694	T	0.36792	-0.9733	10	0.87932	D	0	.	8.5142	0.33235	0.0:0.719:0.1283:0.1526	.	503	Q9Y2C9	TLR6_HUMAN	N	503	ENSP00000389600:D503N;ENSP00000371376:D503N	ENSP00000371376:D503N	D	-	1	0	TLR6	38505983	0.091000	0.21658	0.998000	0.56505	0.853000	0.48598	1.325000	0.33724	1.090000	0.41315	0.484000	0.47621	GAT	TLR6	-	pirsf_Toll-like_receptor	ENSG00000174130		0.433	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR6	HGNC	protein_coding	OTTHUMT00000250431.1	-	0.00	74	0	C			38829588	-1	tier1	-	no_errors	ENST00000381950	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.469	T
TM9SF2	9375	genome.wustl.edu	37	13	100193874	100193874	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:100193874C>T	ENST00000376387.4	+	9	1160	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	324					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.R324G(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GATTATGTTACGGACACTGCA	0.358																																																	1	Substitution - Missense(1)	endometrium(1)											246.0	221.0	229.0					13																	100193874		2203	4300	6503	SO:0001583	missense	0			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.970C>T	13.37:g.100193874C>T	ENSP00000365567:p.Arg324Trp		A8K399|Q2TAY5	Missense_Mutation	SNP	pfam_EMP70	p.R324W	ENST00000376387.4	37	c.970	CCDS9493.1	13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990669	0.74589	.	.	ENSG00000125304	ENST00000376387	T	0.70631	-0.5	5.24	4.31	0.51392	.	0.045428	0.85682	D	0.000000	D	0.89420	0.6710	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91779	0.5434	10	0.87932	D	0	-30.6882	10.6333	0.45549	0.4353:0.5647:0.0:0.0	.	290;324	E9PHW5;Q99805	.;TM9S2_HUMAN	W	324	ENSP00000365567:R324W	ENSP00000365567:R324W	R	+	1	2	TM9SF2	98991875	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.745000	0.47459	2.428000	0.82296	0.585000	0.79938	CGG	TM9SF2	-	pfam_EMP70	ENSG00000125304		0.358	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3		0.00	61	0	C			100193874	+1			no_errors	ENST00000376387	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
TMEM117	84216	genome.wustl.edu	37	12	44782039	44782039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:44782039G>T	ENST00000266534.3	+	8	1256	c.1129G>T	c.(1129-1131)Gga>Tga	p.G377*	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Nonsense_Mutation_p.G273*|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	377						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATATGTTGAGGGAGACATGTT	0.428																																																	0													164.0	155.0	158.0					12																	44782039		2203	4300	6503	SO:0001587	stop_gained	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1129G>T	12.37:g.44782039G>T	ENSP00000266534:p.Gly377*			Nonsense_Mutation	SNP	NULL	p.G377*	ENST00000266534.3	37	c.1129	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917815	0.92249	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	.	.	.	5.73	5.73	0.89815	.	0.146210	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.6374	19.9155	0.97058	0.0:0.0:1.0:0.0	.	.	.	.	X	377;273;125	.	ENSP00000266534:G377X	G	+	1	0	TMEM117	43068306	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.049000	0.71053	2.699000	0.92147	0.650000	0.86243	GGA	TMEM117	-	NULL	ENSG00000139173		0.428	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1		0.00	90	0	G	NM_032256		44782039	+1			no_errors	ENST00000266534	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	1.000	T
TMBIM6	7009	genome.wustl.edu	37	12	50149463	50149463	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:50149463C>A	ENST00000267115.5	+	4	296	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TMBIM6_ENST00000549385.1_Missense_Mutation_p.L71M|TMBIM6_ENST00000395006.4_Missense_Mutation_p.L71M|TMBIM6_ENST00000552699.1_Missense_Mutation_p.L129M|TMBIM6_ENST00000547798.1_Missense_Mutation_p.L34M|TMBIM6_ENST00000423828.1_Missense_Mutation_p.L129M	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	71					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GATGATTTGGCTGATGGCAAC	0.403																																																	0													187.0	184.0	185.0					12																	50149463		2203	4300	6503	SO:0001583	missense	0			X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"""BAX inhibitor 1"""	600748	"""testis enhanced gene transcript"""	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.211C>A	12.37:g.50149463C>A	ENSP00000267115:p.Leu71Met		B2R5M4|F8W034|O14938|Q643A7|Q96J50	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.L129M	ENST00000267115.5	37	c.385	CCDS31797.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007178	0.75046	.	.	ENSG00000139644	ENST00000546796;ENST00000549966;ENST00000547832;ENST00000547187;ENST00000546914;ENST00000552699;ENST00000267115;ENST00000541612;ENST00000549445;ENST00000549385;ENST00000548201;ENST00000423828;ENST00000542631;ENST00000550445;ENST00000549130;ENST00000552370;ENST00000395006;ENST00000547798	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.65	3.84	0.44239	.	0.000000	0.64402	D	0.000001	T	0.64853	0.2636	M	0.70903	2.155	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.995;0.983;0.996	T	0.65533	-0.6145	10	0.54805	T	0.06	.	10.9449	0.47296	0.0:0.8487:0.0:0.1513	.	71;129;71	B7Z984;F8W034;P55061	.;.;BI1_HUMAN	M	71;71;71;71;71;129;71;71;71;71;71;129;71;71;71;71;71;34	ENSP00000450159:L71M;ENSP00000446668:L71M;ENSP00000448269:L71M;ENSP00000447400:L71M;ENSP00000448612:L71M;ENSP00000446734:L129M;ENSP00000267115:L71M;ENSP00000449904:L71M;ENSP00000448036:L71M;ENSP00000450265:L71M;ENSP00000389277:L129M;ENSP00000449907:L71M;ENSP00000450158:L71M;ENSP00000378454:L71M;ENSP00000447030:L34M	ENSP00000267115:L71M	L	+	1	2	TMBIM6	48435730	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.122000	0.57910	0.941000	0.37499	0.655000	0.94253	CTG	TMBIM6	-	pfam_Bax_inhibitor_1-related	ENSG00000139644		0.403	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMBIM6	HGNC	protein_coding	OTTHUMT00000405289.1		0.00	72	0	C	NM_003217		50149463	+1			no_errors	ENST00000423828	ensembl	human	known	74_37	missense	7.32	76	6	SNP	1.000	A
TMEM184A	202915	genome.wustl.edu	37	7	1585572	1585573	+	3'UTR	INS	-	-	C	rs572983642|rs529545803		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:1585572_1585573insC	ENST00000297477.5	-	0	2573_2574				TMEM184A_ENST00000449955.1_5'UTR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A						germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCTGGGAGTGTCCCCCCCGCCC	0.698																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.*1016->G	7.37:g.1585579_1585579dupC			Q8TBQ6	RNA	INS	-	NULL	ENST00000297477.5	37	NULL	CCDS43537.1	7																																																																																			TMEM184A	-	-	ENSG00000164855		0.698	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	HGNC	protein_coding	OTTHUMT00000239229.4		0.00	14	0	-	NM_152689		1585573	-1	tier1		no_errors	ENST00000449955	ensembl	human	putative	74_37	rna	14.29	12	2	INS	0.028:0.028	C
TMEM196	256130	genome.wustl.edu	37	7	19765275	19765275	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:19765275G>T	ENST00000405764.3	-	3	1017	c.321C>A	c.(319-321)tcC>tcA	p.S107S	TMEM196_ENST00000422233.1_Silent_p.S39S|TMEM196_ENST00000433641.1_Silent_p.S39S|TMEM196_ENST00000493519.1_Silent_p.S39S|TMEM196_ENST00000405844.1_Silent_p.S107S	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	113						integral component of membrane (GO:0016021)		p.S107S(1)|p.S39S(1)		breast(1)|large_intestine(1)|lung(4)	6						CGAGAGACATGGAGGCAAGGT	0.527																																																	2	Substitution - coding silent(2)	lung(2)											106.0	99.0	102.0					7																	19765275		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.321C>A	7.37:g.19765275G>T			Q8N6I6	Silent	SNP	NULL	p.S107	ENST00000405764.3	37	c.321	CCDS34607.2	7																																																																																			TMEM196	-	NULL	ENSG00000173452		0.527	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM196	HGNC	protein_coding	OTTHUMT00000326499.1		0.00	90	0	G	NM_152774		19765275	-1			no_errors	ENST00000405764	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T
TMEM79	84283	genome.wustl.edu	37	1	156255725	156255725	+	Silent	SNP	G	G	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:156255725G>C	ENST00000405535.2	+	2	879	c.708G>C	c.(706-708)ctG>ctC	p.L236L	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Silent_p.L236L|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	236					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GTTCCCGCCTGATCTACACAC	0.597																																																	0													114.0	116.0	115.0					1																	156255725		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.708G>C	1.37:g.156255725G>C			B2RE22|D3DVB8	Silent	SNP	NULL	p.L236	ENST00000405535.2	37	c.708	CCDS1138.1	1																																																																																			TMEM79	-	NULL	ENSG00000163472		0.597	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM79	HGNC	protein_coding	OTTHUMT00000052101.1	-	0.00	52	0	G	NM_032323		156255725	+1	tier1	-	no_errors	ENST00000295694	ensembl	human	known	74_37	silent	42.86	28	21	SNP	0.227	C
TMEM87A	25963	genome.wustl.edu	37	15	42556331	42556331	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:42556331G>A	ENST00000389834.4	-	4	626	c.362C>T	c.(361-363)tCa>tTa	p.S121L	TMEM87A_ENST00000448392.1_Missense_Mutation_p.S60L|TMEM87A_ENST00000307216.6_Missense_Mutation_p.S121L|TMEM87A_ENST00000568432.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	121						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CAATTTTGATGATGTTTGATA	0.318																																																	0													149.0	147.0	148.0					15																	42556331		2202	4297	6499	SO:0001583	missense	0			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.362C>T	15.37:g.42556331G>A	ENSP00000374484:p.Ser121Leu		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.S121L	ENST00000389834.4	37	c.362	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545401	0.45280	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	5.12	4.13	0.48395	.	0.462884	0.21826	N	0.068545	T	0.28466	0.0704	N	0.14661	0.345	0.33272	D	0.561183	B;B;B	0.15141	0.0;0.001;0.012	B;B;B	0.16722	0.001;0.004;0.016	T	0.26985	-1.0087	9	0.48119	T	0.1	-6.9457	7.6905	0.28565	0.1144:0.0:0.8856:0.0	.	121;60;121	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	L	121;60;97;121	.	ENSP00000305894:S121L	S	-	2	0	TMEM87A	40343623	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.768000	0.47645	2.646000	0.89796	0.655000	0.94253	TCA	TMEM87A	-	NULL	ENSG00000103978		0.318	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	-	0.00	57	0	G	NM_015497		42556331	-1	tier1	-	no_errors	ENST00000389834	ensembl	human	known	74_37	missense	81.63	9	40	SNP	1.000	A
TMTC1	83857	genome.wustl.edu	37	12	29786082	29786082	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:29786082T>A	ENST00000539277.1	-	6	1184	c.1126A>T	c.(1126-1128)Aag>Tag	p.K376*	TMTC1_ENST00000381224.2_Nonsense_Mutation_p.K330*|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.K438*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.K438*|TMTC1_ENST00000256062.5_Nonsense_Mutation_p.K268*|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	376						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAAATTACCTTAAAGGCTGCT	0.418																																																	0													74.0	77.0	76.0					12																	29786082		2203	4300	6503	SO:0001587	stop_gained	0				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1126A>T	12.37:g.29786082T>A	ENSP00000442046:p.Lys376*		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Nonsense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K268*	ENST00000539277.1	37	c.802	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	.	43	10.280437	0.99375	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	.	.	.	5.53	5.53	0.82687	.	0.172691	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.2332	14.4885	0.67634	0.0:0.0:0.0:1.0	.	.	.	.	X	139;268;438;438;376;330	.	.	K	-	1	0	TMTC1	29677349	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.302000	0.51849	2.088000	0.63022	0.533000	0.62120	AAG	TMTC1	-	NULL	ENSG00000133687		0.418	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1		0.00	28	0	T	NM_031920		29786082	-1			no_errors	ENST00000256062	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)											49.0	49.0	49.0					17																	7578403		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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		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.C176F	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	20	0	C	NM_000546		7578403	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	53.12	15	17	SNP	1.000	A
TP73-AS1	57212	genome.wustl.edu	37	1	3659673	3659673	+	RNA	SNP	G	G	A	rs557503822		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:3659673G>A	ENST00000452079.1	-	0	1797				TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000587071.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											AGGCAGTGACGGCGGTGATCC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20262	0.0		0.001	False		,,,				2504	0.0																0													26.0	44.0	39.0					1																	3659673		692	1591	2283			0					1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3659673G>A				RNA	SNP	-	NULL	ENST00000452079.1	37	NULL		1																																																																																			TP73-AS1	-	-	ENSG00000227372		0.577	TP73-AS1-003	KNOWN	basic	antisense	TP73-AS1	HGNC	antisense	OTTHUMT00000009558.1	-	0.00	72	0	G	NR_033708		3659673	-1	tier1	-	no_errors	ENST00000418088	ensembl	human	known	74_37	rna	43.86	32	25	SNP	0.054	A
TPRX2P	503627	genome.wustl.edu	37	19	48364079	48364079	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:48364079C>T	ENST00000535362.1	+	3	291	c.291C>T	c.(289-291)cgC>cgT	p.R97R	CTD-3098H1.2_ENST00000555406.2_lincRNA					tetra-peptide repeat homeobox 2 pseudogene																		AGAATCGCCGCGCCAAACTAG	0.736																																																	0																																										SO:0001819	synonymous_variant	0					19q13.32	2011-06-20				ENSG00000259009		"""Homeoboxes / PRD class"""	32175	pseudogene	pseudogene							Standard	NG_004835		Approved	TPRX2P1				ENST00000535362.1:c.291C>T	19.37:g.48364079C>T				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R97	ENST00000535362.1	37	c.291		19																																																																																			TPRX2P	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000259009		0.736	TPRX2P-001	KNOWN	basic|appris_principal	protein_coding	TPRX2P	HGNC	protein_coding	OTTHUMT00000470149.1	-	0.00	92	0	C	NG_004835		48364079	+1	tier1	-	no_errors	ENST00000535362	ensembl	human	known	74_37	silent	13.58	140	22	SNP	0.185	T
TRA2A	29896	genome.wustl.edu	37	7	23571455	23571455	+	5'UTR	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:23571455G>A	ENST00000297071.4	-	0	205				TRA2A_ENST00000474586.1_5'Flank|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TCGACGAGGCGCTCCCCAGAA	0.582																																					Pancreas(121;2137 2973 46590)												0													54.0	51.0	52.0					7																	23571455		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.-12C>T	7.37:g.23571455G>A			B4DUA9	RNA	SNP	-	NULL	ENST00000297071.4	37	NULL	CCDS5383.1	7																																																																																			TRA2A	-	-	ENSG00000164548		0.582	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	-	0.00	108	0	G	NM_013293		23571455	-1	tier1	-	no_errors	ENST00000490942	ensembl	human	known	74_37	rna	19.64	90	22	SNP	0.995	A
TRERF1	55809	genome.wustl.edu	37	6	42211039	42211039	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:42211039G>T	ENST00000372922.4	-	15	3368	c.2806C>A	c.(2806-2808)Cgg>Agg	p.R936R	TRERF1_ENST00000354325.2_Silent_p.R853R|TRERF1_ENST00000541110.1_Silent_p.R956R|TRERF1_ENST00000372917.4_Silent_p.R853R|TRERF1_ENST00000340840.2_Silent_p.R853R	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	936	Interacts with CREBBP.|SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R936W(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCCCCAGCCGCATGATCTTT	0.557																																																	1	Substitution - Missense(1)	lung(1)											179.0	151.0	160.0					6																	42211039		2203	4300	6503	SO:0001819	synonymous_variant	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2806C>A	6.37:g.42211039G>T			Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.R956	ENST00000372922.4	37	c.2866	CCDS4867.1	6																																																																																			TRERF1	-	superfamily_Homeodomain-like	ENSG00000124496		0.557	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2		0.00	65	0	G	NM_033502		42211039	-1			no_errors	ENST00000541110	ensembl	human	known	74_37	silent	7.50	37	3	SNP	1.000	T
TRIM67	440730	genome.wustl.edu	37	1	231339687	231339687	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:231339687C>T	ENST00000366653.5	+	6	1609	c.1609C>T	c.(1609-1611)Cca>Tca	p.P537S	TRIM67_ENST00000366652.2_Missense_Mutation_p.P537S|TRIM67_ENST00000449018.3_Missense_Mutation_p.P475S|TRIM67_ENST00000444294.3_Missense_Mutation_p.P535S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	537	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTGGAGGATGCCACCCTTCAC	0.637																																																	0													49.0	61.0	57.0					1																	231339687		2117	4214	6331	SO:0001583	missense	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1609C>T	1.37:g.231339687C>T	ENSP00000355613:p.Pro537Ser		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.P537S	ENST00000366653.5	37	c.1609	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969291	0.74246	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168879	0.53938	D	0.000060	T	0.59293	0.2183	M	0.83012	2.62	0.51767	D	0.99993	P	0.42871	0.792	B	0.42692	0.395	T	0.65590	-0.6131	10	0.52906	T	0.07	.	19.4229	0.94729	0.0:1.0:0.0:0.0	.	537	Q6ZTA4	TRI67_HUMAN	S	535;537;475;537	ENSP00000412124:P535S;ENSP00000355612:P537S;ENSP00000400163:P475S;ENSP00000355613:P537S	ENSP00000355612:P537S	P	+	1	0	TRIM67	229406310	1.000000	0.71417	0.987000	0.45799	0.935000	0.57460	3.119000	0.50422	2.584000	0.87258	0.555000	0.69702	CCA	TRIM67	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000119283		0.637	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3		0.00	72	0	C	NM_001004342		231339687	+1			no_errors	ENST00000366652	ensembl	human	known	74_37	missense	5.83	97	6	SNP	1.000	T
TRIM68	55128	genome.wustl.edu	37	11	4621685	4621685	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:4621685C>T	ENST00000300747.5	-	7	1568	c.1279G>A	c.(1279-1281)Gtg>Atg	p.V427M		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	427	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCATAATCCACGAAGATTCCC	0.567																																																	0													97.0	82.0	87.0					11																	4621685		2201	4298	6499	SO:0001583	missense	0			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1279G>A	11.37:g.4621685C>T	ENSP00000300747:p.Val427Met		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.V427M	ENST00000300747.5	37	c.1279	CCDS31356.1	11	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505843	0.26949	.	.	ENSG00000167333	ENST00000300747;ENST00000544055	T	0.63096	-0.02	5.52	0.123	0.14709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.181162	0.26911	N	0.021875	T	0.64305	0.2586	M	0.73598	2.24	0.22610	N	0.998936	D	0.53885	0.963	P	0.50896	0.653	T	0.58493	-0.7627	10	0.87932	D	0	.	6.7088	0.23266	0.2239:0.2463:0.5298:0.0	.	427	Q6AZZ1	TRI68_HUMAN	M	427;148	ENSP00000300747:V427M	ENSP00000300747:V427M	V	-	1	0	TRIM68	4578261	1.000000	0.71417	0.998000	0.56505	0.353000	0.29299	0.654000	0.24918	0.112000	0.17975	-0.311000	0.09066	GTG	TRIM68	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000167333		0.567	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM68	HGNC	protein_coding	OTTHUMT00000385948.1		0.00	28	0	C	NM_018073		4621685	-1			no_errors	ENST00000300747	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.999	T
TRPC4	7223	genome.wustl.edu	37	13	38237745	38237745	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:38237745T>C	ENST00000379705.3	-	6	2353	c.1496A>G	c.(1495-1497)aAt>aGt	p.N499S	TRPC4_ENST00000379679.1_Missense_Mutation_p.N326S|TRPC4_ENST00000355779.2_Missense_Mutation_p.N499S|TRPC4_ENST00000447043.1_Missense_Mutation_p.N499S|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.N499S|TRPC4_ENST00000358477.2_Missense_Mutation_p.N499S|TRPC4_ENST00000338947.5_Missense_Mutation_p.N326S|TRPC4_ENST00000379681.3_Missense_Mutation_p.N499S|TRPC4_ENST00000494529.1_5'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	499					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGGTGAGAATTTGCAGTAAA	0.433																																																	0													88.0	87.0	88.0					13																	38237745		2203	4300	6503	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1496A>G	13.37:g.38237745T>C	ENSP00000369027:p.Asn499Ser		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.N499S	ENST00000379705.3	37	c.1496	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478302	0.84747	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	L	0.38649	1.16	0.80722	D	1	D;P;D;D;P;P	0.67145	0.982;0.83;0.996;0.988;0.913;0.916	P;P;D;D;P;D	0.73380	0.785;0.604;0.98;0.928;0.769;0.923	D	0.98824	1.0748	10	0.42905	T	0.14	-26.0273	16.6438	0.85155	0.0:0.0:0.0:1.0	.	499;499;499;326;499;499	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	S	499;499;326;326;499;499;499;499	ENSP00000369027:N499S;ENSP00000369003:N499S;ENSP00000342580:N326S;ENSP00000369001:N326S;ENSP00000348025:N499S;ENSP00000351264:N499S;ENSP00000368995:N499S;ENSP00000414316:N499S	ENSP00000342580:N326S	N	-	2	0	TRPC4	37135745	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.033000	0.88852	2.333000	0.79357	0.533000	0.62120	AAT	TRPC4	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000133107		0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	-	0.00	39	0	T	NM_003306		38237745	-1	tier1	-	no_errors	ENST00000379681	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	C
TRPC6	7225	genome.wustl.edu	37	11	101353851	101353851	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:101353851C>T	ENST00000344327.3	-	5	1763	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	TRPC6_ENST00000348423.4_Missense_Mutation_p.A331T|TRPC6_ENST00000360497.4_Missense_Mutation_p.A392T|TRPC6_ENST00000532133.1_Missense_Mutation_p.A447T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	447					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A447T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGGAGGCTGCGTGTGCTACA	0.418																																					Colon(166;1315 1927 11094 12848 34731)												1	Substitution - Missense(1)	large_intestine(1)											105.0	95.0	98.0					11																	101353851		2203	4299	6502	SO:0001583	missense	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1339G>A	11.37:g.101353851C>T	ENSP00000340913:p.Ala447Thr		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A447T	ENST00000344327.3	37	c.1339	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319186	0.60524	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	L	0.48218	1.51	0.80722	D	1	D;P;D	0.89917	1.0;0.905;1.0	D;B;D	0.91635	0.999;0.346;0.998	T	0.50931	-0.8769	10	0.27785	T	0.31	-0.7414	19.431	0.94765	0.0:1.0:0.0:0.0	.	392;331;447	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	447;447;331;392	ENSP00000340913:A447T;ENSP00000435574:A447T;ENSP00000343672:A331T;ENSP00000353687:A392T	ENSP00000340913:A447T	A	-	1	0	TRPC6	100859061	1.000000	0.71417	0.850000	0.33497	0.989000	0.77384	7.818000	0.86416	2.584000	0.87258	0.591000	0.81541	GCA	TRPC6	-	tigrfam_TRP_channel	ENSG00000137672		0.418	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1		0.00	65	0	C	NM_004621		101353851	-1			no_errors	ENST00000344327	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T
TSC2	7249	genome.wustl.edu	37	16	2136353	2136353	+	Missense_Mutation	SNP	T	T	C	rs137854399		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:2136353T>C	ENST00000219476.3	+	37	5452	c.4822T>C	c.(4822-4824)Tac>Cac	p.Y1608H	TSC2_ENST00000382538.6_Missense_Mutation_p.Y1493H|TSC2_ENST00000350773.4_Missense_Mutation_p.Y1585H|TSC2_ENST00000439673.2_Missense_Mutation_p.Y1505H|TSC2_ENST00000353929.4_Missense_Mutation_p.Y1565H|TSC2_ENST00000568454.1_Missense_Mutation_p.Y1552H|TSC2_ENST00000401874.2_Missense_Mutation_p.Y1541H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1608	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.Y1608D(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGTTCACCTACTGCTGGCA	0.667			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	2	Substitution - Missense(2)	ovary(2)											137.0	105.0	116.0					16																	2136353		2196	4299	6495	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4822T>C	16.37:g.2136353T>C	ENSP00000219476:p.Tyr1608His		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.Y1608H	ENST00000219476.3	37	c.4822	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050788	0.75960	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	4.21	4.21	0.49690	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.997;0.998;0.999;0.998;0.998;0.998	D	0.97626	1.0139	10	0.87932	D	0	-28.2122	13.441	0.61112	0.0:0.0:0.0:1.0	.	1493;1505;1585;383;1564;1541;1608	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	H	1608;1542;1565;1505;1493;1585	ENSP00000219476:Y1608H;ENSP00000248099:Y1565H;ENSP00000399232:Y1505H;ENSP00000371978:Y1493H;ENSP00000344383:Y1585H	ENSP00000219476:Y1608H	Y	+	1	0	TSC2	2076354	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.071000	0.71229	1.761000	0.52028	0.459000	0.35465	TAC	TSC2	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000103197		0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2		0.00	24	0	T	NM_000548		2136353	+1			no_errors	ENST00000219476	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	C
CFAP46	54777	genome.wustl.edu	37	10	134740158	134740158	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:134740158G>T	ENST00000368586.5	-	10	1079	c.979C>A	c.(979-981)Ctt>Att	p.L327I	TTC40_ENST00000368582.2_Missense_Mutation_p.L327I	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATTTCAATAAGCTTCCCAGGA	0.398																																																	0																																										SO:0001583	missense	0																														ENST00000368586.5:c.979C>A	10.37:g.134740158G>T	ENSP00000357575:p.Leu327Ile			Missense_Mutation	SNP	NULL	p.L327I	ENST00000368586.5	37	c.979	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395295	0.42512	.	.	ENSG00000171811	ENST00000368586;ENST00000368582	T;T	0.55052	0.54;0.54	3.88	2.9	0.33743	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.22771	N	0.99875	.	.	.	.	.	.	T	0.32955	-0.9887	6	0.34782	T	0.22	.	9.0566	0.36410	0.0:0.1556:0.686:0.1584	.	.	.	.	I	327	ENSP00000357575:L327I;ENSP00000357571:L327I	ENSP00000357571:L327I	L	-	1	0	C10orf93	134590148	1.000000	0.71417	0.283000	0.24790	0.762000	0.43233	1.579000	0.36536	1.894000	0.54839	0.491000	0.48974	CTT	TTC40	-	NULL	ENSG00000171811		0.398	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	-	0.00	43	0	G			134740158	-1	tier1	-	no_errors	ENST00000368582	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.960	T
TTN	7273	genome.wustl.edu	37	2	179397111	179397111	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:179397111G>T	ENST00000591111.1	-	308	99532	c.99308C>A	c.(99307-99309)gCa>gAa	p.A33103E	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25804E|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A25679E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32176E|TTN_ENST00000589042.1_Missense_Mutation_p.A34744E|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25871E|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33103					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)			CCTCAGTTCTGCATAACTTGT	0.493																																																	0													200.0	188.0	192.0					2																	179397111		2033	4191	6224	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.99308C>A	2.37:g.179397111G>T	ENSP00000465570:p.Ala33103Glu		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.A32176E	ENST00000591111.1	37	c.96527		2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590371	0.46214	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.25;0.23;0.22	5.93	3.89	0.44902	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.41604	0.1166	N	0.08118	0	0.33452	D	0.583808	B;B;B;B	0.27559	0.1;0.1;0.1;0.181	B;B;B;B	0.24006	0.05;0.05;0.05;0.05	T	0.55101	-0.8193	9	0.87932	D	0	.	11.6307	0.51173	0.0772:0.1303:0.7926:0.0	.	25679;25804;25871;33103	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	32176;25679;25871;25804;25676	ENSP00000343764:A32176E;ENSP00000434586:A25679E;ENSP00000340554:A25871E;ENSP00000352154:A25804E	ENSP00000340554:A25871E	A	-	2	0	TTN	179105357	1.000000	0.71417	0.694000	0.30210	0.804000	0.45430	3.983000	0.56916	2.808000	0.96608	0.655000	0.94253	GCA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	67	0	G	NM_133378		179397111	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.14	51	4	SNP	0.930	T
TTN	7273	genome.wustl.edu	37	2	179424743	179424743	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:179424743G>T	ENST00000591111.1	-	276	81417	c.81193C>A	c.(81193-81195)Cga>Aga	p.R27065R	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.R19766R|TTN_ENST00000460472.2_Silent_p.R19641R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.R26138R|TTN_ENST00000589042.1_Silent_p.R28706R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.R19833R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27065	Fibronectin type-III 97. {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)			TCTGTCCCTCGTAAGCTCTGA	0.423																																																	0													73.0	69.0	70.0					2																	179424743		1861	4089	5950	SO:0001819	synonymous_variant	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.81193C>A	2.37:g.179424743G>T			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	Silent	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.R26138	ENST00000591111.1	37	c.78412		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	24	0	G	NM_133378		179424743	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.998	T
TTN	7273	genome.wustl.edu	37	2	179476867	179476867	+	Silent	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:179476867G>T	ENST00000591111.1	-	217	45572	c.45348C>A	c.(45346-45348)gcC>gcA	p.A15116A	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.A7817A|TTN_ENST00000460472.2_Silent_p.A7692A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A14189A|TTN_ENST00000589042.1_Silent_p.A16757A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.A7884A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15116	Fibronectin type-III 10. {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)			CCACTGCCAGGGCGTAGGGTG	0.413																																																	0													79.0	71.0	74.0					2																	179476867		1877	4097	5974	SO:0001819	synonymous_variant	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.45348C>A	2.37:g.179476867G>T			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	Silent	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.A14189	ENST00000591111.1	37	c.42567		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	71	0	G	NM_133378		179476867	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.819	T
TTN	7273	genome.wustl.edu	37	2	179588783	179588783	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:179588783G>T	ENST00000591111.1	-	71	20476	c.20252C>A	c.(20251-20253)gCt>gAt	p.A6751D	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A5824D|TTN_ENST00000589042.1_Missense_Mutation_p.A7068D|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12374	Ig-like 49.				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)			TGATGATCCAGCTACTTTGCA	0.438																																																	0													88.0	81.0	83.0					2																	179588783		1917	4119	6036	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.20252C>A	2.37:g.179588783G>T	ENSP00000465570:p.Ala6751Asp		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.A5824D	ENST00000591111.1	37	c.17471		2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278473	0.59758	.	.	ENSG00000155657	ENST00000342992	T	0.67345	-0.26	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64616	0.2614	L	0.33753	1.03	0.80722	D	1	B	0.31459	0.324	B	0.37091	0.241	T	0.64618	-0.6365	9	0.87932	D	0	.	20.3248	0.98698	0.0:0.0:1.0:0.0	.	6751	Q8WZ42	TITIN_HUMAN	D	5824	ENSP00000343764:A5824D	ENSP00000343764:A5824D	A	-	2	0	TTN	179297028	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	5.567000	0.67378	2.818000	0.97014	0.655000	0.94253	GCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	20	0	G	NM_133378		179588783	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.998	T
TYMP	1890	genome.wustl.edu	37	22	50967742	50967742	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr22:50967742delA	ENST00000252029.3	-	3	402	c.240delT	c.(238-240)cttfs	p.L80fs	SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395680.1_Frame_Shift_Del_p.L80fs|TYMP_ENST00000395681.1_Frame_Shift_Del_p.L80fs|TYMP_ENST00000395678.3_Frame_Shift_Del_p.L80fs	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	80					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	CCATGCCCCGAAGTCGGATGG	0.692																																																	0													40.0	41.0	40.0					22																	50967742		2203	4298	6501	SO:0001589	frameshift_variant	0			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.240delT	22.37:g.50967742delA	ENSP00000252029:p.Leu80fs		A8MW15|H9KVA0|Q13390|Q8WVB7	Frame_Shift_Del	DEL	pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	p.R81fs	ENST00000252029.3	37	c.240	CCDS14096.1	22																																																																																			TYMP	-	pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	ENSG00000025708		0.692	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TYMP	HGNC	protein_coding	OTTHUMT00000317081.1		0.00	71	0	A	NM_001953		50967742	-1	tier1		no_errors	ENST00000252029	ensembl	human	known	74_37	frame_shift_del	47.27	29	26	DEL	0.353	-
TYRP1	7306	genome.wustl.edu	37	9	12704581	12704581	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:12704581G>T	ENST00000388918.5	+	6	1266	c.1137G>T	c.(1135-1137)ttG>ttT	p.L379F	TYRP1_ENST00000381136.2_Missense_Mutation_p.L89F|TYRP1_ENST00000381137.2_Missense_Mutation_p.L88F|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	379					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCACAATTTGGCTCATCTAT	0.433									Oculocutaneous Albinism																																								0													100.0	85.0	90.0					9																	12704581		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1137G>T	9.37:g.12704581G>T	ENSP00000373570:p.Leu379Phe		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.L379F	ENST00000388918.5	37	c.1137	CCDS34990.1	9	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614971	0.66672	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98313	-4.86;-4.86;-4.86	5.53	3.64	0.41730	Tyrosinase (2);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98745	1.0718	10	0.87932	D	0	-16.4368	10.8549	0.46794	0.1585:0.0:0.8415:0.0	.	379	P17643	TYRP1_HUMAN	F	88;379;89	ENSP00000370529:L88F;ENSP00000373570:L379F;ENSP00000370528:L89F	ENSP00000370528:L89F	L	+	3	2	TYRP1	12694581	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.348000	0.66004	0.637000	0.30526	-0.229000	0.12294	TTG	TYRP1	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	ENSG00000107165		0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	-	0.00	91	0	G	NM_000550		12704581	+1	tier1	-	no_errors	ENST00000388918	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
UQCC1	55245	genome.wustl.edu	37	20	33891796	33891796	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:33891796T>G	ENST00000374385.5	-	10	1019	c.842A>C	c.(841-843)aAg>aCg	p.K281T	UQCC1_ENST00000349714.5_Missense_Mutation_p.K254T|UQCC1_ENST00000374384.2_Missense_Mutation_p.K255T|UQCC1_ENST00000359226.2_Missense_Mutation_p.K201T|UQCC1_ENST00000407996.2_Missense_Mutation_p.K144T|UQCC1_ENST00000374380.2_Missense_Mutation_p.K213T|UQCC1_ENST00000540457.1_Missense_Mutation_p.K126T|UQCC1_ENST00000397556.3_Missense_Mutation_p.K182T|UQCC1_ENST00000374377.5_Missense_Mutation_p.K169T	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	281						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											CTGAGGATTCTTCTCCACTAG	0.607											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													121.0	112.0	115.0					20																	33891796		2203	4300	6503	SO:0001583	missense	0			AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.842A>C	20.37:g.33891796T>G	ENSP00000363506:p.Lys281Thr	843	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	pfam_Ubiq_cyt_c_chap/UPF0174	p.K281T	ENST00000374385.5	37	c.842	CCDS13252.1	20	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102659	0.56183	.	.	ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000374377;ENST00000397556;ENST00000407996;ENST00000540457;ENST00000424405	T;T;T;T;T;T	0.52295	1.49;1.48;1.46;1.41;0.88;0.67	4.99	4.99	0.66335	.	0.246048	0.39407	N	0.001377	T	0.50973	0.1647	L	0.38175	1.15	0.80722	D	1	B;B;D;B;B;B;P;B	0.76494	0.047;0.138;0.999;0.022;0.014;0.026;0.568;0.205	B;B;D;B;B;B;B;B	0.80764	0.029;0.05;0.994;0.015;0.003;0.023;0.338;0.021	T	0.45469	-0.9259	10	0.10377	T	0.69	-25.7738	8.6314	0.33922	0.0:0.0937:0.0:0.9063	.	213;144;255;166;182;254;281;94	B1AKV5;B7Z7J8;B7ZBG3;Q9NVA1-3;B7Z314;B7ZBG4;Q9NVA1;Q7Z3P9	.;.;.;.;.;.;UQCC_HUMAN;.	T	254;201;255;213;281;169;182;144;126;249	ENSP00000335364:K254T;ENSP00000352161:K201T;ENSP00000363505:K255T;ENSP00000363506:K281T;ENSP00000386064:K144T;ENSP00000399713:K249T	ENSP00000335364:K254T	K	-	2	0	UQCC	33355210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.243000	0.43115	2.239000	0.73571	0.533000	0.62120	AAG	UQCC1	-	NULL	ENSG00000101019		0.607	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCC1	HGNC	protein_coding	OTTHUMT00000078866.1	-	0.00	58	0	T	NM_018244		33891796	-1	tier1	-	no_errors	ENST00000374385	ensembl	human	known	74_37	missense	11.96	81	11	SNP	1.000	G
VPS13C	54832	genome.wustl.edu	37	15	62238035	62238035	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:62238035A>G	ENST00000261517.5	-	45	5100	c.5027T>C	c.(5026-5028)cTt>cCt	p.L1676P	VPS13C_ENST00000249837.3_Missense_Mutation_p.L1633P|VPS13C_ENST00000395896.4_Missense_Mutation_p.L1676P|VPS13C_ENST00000395898.3_Missense_Mutation_p.L1633P	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATCTGGATAAAGAGTCAGTTG	0.368																																																	0													171.0	173.0	172.0					15																	62238035		2203	4300	6503	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5027T>C	15.37:g.62238035A>G	ENSP00000261517:p.Leu1676Pro			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.L1676P	ENST00000261517.5	37	c.5027	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828151	0.71143	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.54071	0.83;0.81;0.98;0.59	5.44	5.44	0.79542	.	0.075196	0.53938	D	0.000048	T	0.72803	0.3506	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.993;0.989	D;D;D;P	0.68192	0.956;0.956;0.956;0.905	T	0.75385	-0.3336	10	0.48119	T	0.1	.	15.481	0.75528	1.0:0.0:0.0:0.0	.	1633;1676;1633;1676	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	P	1633;1676;1676;1676	ENSP00000249837:L1633P;ENSP00000261517:L1676P;ENSP00000379233:L1676P;ENSP00000379235:L1676P	ENSP00000249837:L1633P	L	-	2	0	VPS13C	60025327	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	8.887000	0.92456	2.069000	0.61940	0.402000	0.26972	CTT	VPS13C	-	NULL	ENSG00000129003		0.368	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0.00	64	0	A	NM_017684		62238035	-1	tier1	-	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G
XIRP2	129446	genome.wustl.edu	37	2	168115788	168115788	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:168115788T>A	ENST00000409728.1	+	11	2920	c.2831T>A	c.(2830-2832)tTg>tAg	p.L944*	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Nonsense_Mutation_p.L911*|XIRP2_ENST00000409605.1_Nonsense_Mutation_p.L689*|XIRP2_ENST00000420519.1_Nonsense_Mutation_p.L944*|XIRP2_ENST00000409043.1_Nonsense_Mutation_p.L911*|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTAAGCCTTTGTTTCCCAGA	0.438																																																	0													83.0	78.0	79.0					2																	168115788		1931	4147	6078	SO:0001587	stop_gained	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2831T>A	2.37:g.168115788T>A	ENSP00000386619:p.Leu944*		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L944*	ENST00000409728.1	37	c.2831	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836701	0.91117	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	.	.	.	5.91	-7.17	0.01511	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8272	0.18560	0.0872:0.3023:0.0861:0.5244	.	.	.	.	X	911;944;911;944;689	.	ENSP00000386454:L911X	L	+	2	0	XIRP2	167824034	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.248000	0.08854	-1.316000	0.02295	-1.964000	0.00472	TTG	XIRP2	-	NULL	ENSG00000163092		0.438	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1		0.00	31	0	T	NM_152381		168115788	+1			no_errors	ENST00000420519	ensembl	human	known	74_37	nonsense	12.50	21	3	SNP	0.000	A
YTHDF3	253943	genome.wustl.edu	37	8	64124994	64124995	+	3'UTR	INS	-	-	A	rs71671324	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:64124994_64124995insA	ENST00000517371.1	+	0	3113_3114				YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_3'UTR|YTHDF3_ENST00000539294.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGTTTGCAATAAAAAAAAATG	0.272																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*2731->A	8.37:g.64125003_64125003dupA			B3KXL4|Q63Z37|Q659A3	RNA	INS	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-	ENSG00000185728		0.272	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4		0.00	62	0	-	NM_152758		64124995	+1	tier1		no_errors	ENST00000521674	ensembl	human	known	74_37	rna	7.69	24	2	INS	1.000:0.997	A
ZCCHC5	203430	genome.wustl.edu	37	X	77913424	77913424	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:77913424T>A	ENST00000321110.1	-	2	789	c.494A>T	c.(493-495)gAg>gTg	p.E165V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	165	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTGGGGCTTCTCAATATTTGG	0.562																																																	0													40.0	43.0	42.0					X																	77913424		2203	4300	6503	SO:0001583	missense	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.494A>T	X.37:g.77913424T>A	ENSP00000316794:p.Glu165Val		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E165V	ENST00000321110.1	37	c.494	CCDS14440.1	X	.	.	.	.	.	.	.	.	.	.	T	9.510	1.105619	0.20632	.	.	ENSG00000179300	ENST00000321110	T	0.22539	1.95	3.34	2.13	0.27403	.	.	.	.	.	T	0.11793	0.0287	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.22386	0.039	T	0.23691	-1.0181	9	0.38643	T	0.18	.	7.111	0.25390	0.0:0.0:0.4605:0.5395	.	165	Q8N8U3	ZCHC5_HUMAN	V	165	ENSP00000316794:E165V	ENSP00000316794:E165V	E	-	2	0	ZCCHC5	77800080	0.019000	0.18553	0.003000	0.11579	0.045000	0.14185	0.195000	0.17155	0.469000	0.27268	0.345000	0.21793	GAG	ZCCHC5	-	NULL	ENSG00000179300		0.562	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	-	0.00	15	0	T	NM_152694		77913424	-1	tier1	-	no_errors	ENST00000321110	ensembl	human	known	74_37	missense	57.69	11	15	SNP	0.002	A
ZDHHC11	79844	genome.wustl.edu	37	5	712139	712139	+	Intron	SNP	T	T	A	rs111351502	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:712139T>A	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000522356.1_5'UTR|ZDHHC11B_ENST00000508859.2_3'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCAGCCCATCTTCCTGGAGAT	0.562													t|||	2442	0.48762	0.5522	0.4683	5008	,	,		24038	0.5248		0.4911	False		,,,				2504	0.3722																0																																										SO:0001627	intron_variant	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1237-1140A>T	5.37:g.712139T>A			Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-	ENSG00000206077		0.562	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		-	0.00	20	0	T	NM_024786		712139	-1	tier1	rs111351502	no_errors	ENST00000522356	ensembl	human	known	74_37	rna	25.00	12	4	SNP	0.000	A
ZFAND5	7763	genome.wustl.edu	37	9	74975126	74975126	+	Missense_Mutation	SNP	C	C	A	rs376006282		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:74975126C>A	ENST00000237937.3	-	3	720	c.163G>T	c.(163-165)Ggt>Tgt	p.G55C	ZFAND5_ENST00000343431.2_Missense_Mutation_p.G55C|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.G55C|ZFAND5_ENST00000376962.5_Missense_Mutation_p.G55C	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	55					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						CTGTTGGAACCACTAGCTGTT	0.378																																																	0													75.0	74.0	75.0					9																	74975126		2203	4298	6501	SO:0001583	missense	0			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.163G>T	9.37:g.74975126C>A	ENSP00000237937:p.Gly55Cys		A8K484	Missense_Mutation	SNP	pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1	p.G55C	ENST00000237937.3	37	c.163	CCDS6642.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094846	0.76870	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	.	0.045027	0.85682	D	0.000000	T	0.61148	0.2324	L	0.29908	0.895	0.58432	D	0.999995	D	0.61080	0.989	P	0.52514	0.701	T	0.61778	-0.6993	9	0.59425	D	0.04	-10.1424	20.5948	0.99439	0.0:1.0:0.0:0.0	.	55	O76080	ZFAN5_HUMAN	C	55;55;55;55;107	.	ENSP00000237937:G55C	G	-	1	0	ZFAND5	74164946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.428000	0.59894	2.873000	0.98535	0.563000	0.77884	GGT	ZFAND5	-	NULL	ENSG00000107372		0.378	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND5	HGNC	protein_coding	OTTHUMT00000052644.1	-	0.00	27	0	C			74975126	-1	tier1	-	no_errors	ENST00000237937	ensembl	human	known	74_37	missense	47.06	9	8	SNP	1.000	A
ZNF155	7711	genome.wustl.edu	37	19	44501597	44501597	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:44501597C>T	ENST00000270014.2	+	5	1716	c.1588C>T	c.(1588-1590)Ctt>Ttt	p.L530F	ZNF155_ENST00000407951.2_Missense_Mutation_p.L541F|RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.L530F	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	530					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)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TCTGGATATACTTTTATCAtt	0.383																																					NSCLC(61;554 1277 20909 42067 42312)												0													46.0	47.0	47.0					19																	44501597		2203	4300	6503	SO:0001583	missense	0			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1588C>T	19.37:g.44501597C>T	ENSP00000270014:p.Leu530Phe		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	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.L530F	ENST00000270014.2	37	c.1588	CCDS12634.1	19	.	.	.	.	.	.	.	.	.	.	C	2.126	-0.400371	0.04865	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.05786	3.41;3.39	1.05	-2.11	0.07187	.	.	.	.	.	T	0.03477	0.0100	L	0.27053	0.805	0.09310	N	1	P;B	0.35844	0.524;0.017	B;B	0.21917	0.037;0.002	T	0.35400	-0.9790	9	0.87932	D	0	.	5.6866	0.17807	0.4223:0.5777:0.0:0.0	.	541;530	B4DM95;Q12901	.;ZN155_HUMAN	F	541;530	ENSP00000385163:L541F;ENSP00000270014:L530F	ENSP00000270014:L530F	L	+	1	0	ZNF155	49193437	0.238000	0.23825	0.024000	0.17045	0.018000	0.09664	0.126000	0.15769	-0.514000	0.06488	-0.521000	0.04368	CTT	ZNF155	-	NULL	ENSG00000204920		0.383	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF155	HGNC	protein_coding	OTTHUMT00000460074.1	-	0.00	42	0	C	NM_003445		44501597	+1	tier1	-	no_errors	ENST00000270014	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.002	T
ZNF408	79797	genome.wustl.edu	37	11	46726399	46726399	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:46726399C>G	ENST00000311764.2	+	5	1379	c.1149C>G	c.(1147-1149)tgC>tgG	p.C383W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTTCTTTGCACTGAGTGTG	0.582																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													59.0	58.0	59.0					11																	46726399		2201	4299	6500	SO:0001583	missense	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1149C>G	11.37:g.46726399C>G	ENSP00000309606:p.Cys383Trp			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C383W	ENST00000311764.2	37	c.1149	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388783	0.61956	.	.	ENSG00000175213	ENST00000311764	T	0.59772	0.24	5.45	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000212	T	0.82204	0.4986	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84493	0.0612	10	0.87932	D	0	-23.7421	9.4688	0.38829	0.0:0.7833:0.0:0.2167	.	375;383	B4DXY4;Q9H9D4	.;ZN408_HUMAN	W	383	ENSP00000309606:C383W	ENSP00000309606:C383W	C	+	3	2	ZNF408	46682975	0.999000	0.42202	0.995000	0.50966	0.968000	0.65278	1.687000	0.37680	0.790000	0.33803	0.467000	0.42956	TGC	ZNF408	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175213		0.582	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	-	0.00	43	0	C	NM_024741		46726399	+1	tier1	-	no_errors	ENST00000311764	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	G
ZNF420	147923	genome.wustl.edu	37	19	37618367	37618367	+	Silent	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:37618367A>G	ENST00000337995.3	+	5	689	c.474A>G	c.(472-474)caA>caG	p.Q158Q	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Silent_p.Q158Q	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACAACATCAAAGTATTCATA	0.408																																																	0													67.0	66.0	66.0					19																	37618367		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.474A>G	19.37:g.37618367A>G			B2RDY6|Q96ML5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q158	ENST00000337995.3	37	c.474	CCDS12498.1	19																																																																																			ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.408	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	-	0.00	52	0	A	NM_144689		37618367	+1	tier1	-	no_errors	ENST00000337995	ensembl	human	known	74_37	silent	53.33	28	32	SNP	0.745	G
ZNF420	147923	genome.wustl.edu	37	19	37618622	37618622	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:37618622A>C	ENST00000337995.3	+	5	944	c.729A>C	c.(727-729)aaA>aaC	p.K243N	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Missense_Mutation_p.K243N	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GACATCAAAAAGTTCATACTG	0.358																																																	0													60.0	65.0	63.0					19																	37618622		2203	4298	6501	SO:0001583	missense	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.729A>C	19.37:g.37618622A>C	ENSP00000338770:p.Lys243Asn		B2RDY6|Q96ML5	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.K243N	ENST00000337995.3	37	c.729	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	A	13.32	2.201561	0.38905	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.24723	1.84;1.84	3.98	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27454	0.0674	L	0.38531	1.155	0.09310	N	0.999995	D	0.57571	0.98	P	0.53224	0.721	T	0.10870	-1.0611	9	0.87932	D	0	.	4.5739	0.12223	0.7813:0.0:0.2187:0.0	.	243	Q8TAQ5	ZN420_HUMAN	N	243	ENSP00000306102:K243N;ENSP00000338770:K243N	ENSP00000306102:K243N	K	+	3	2	ZNF420	42310462	0.000000	0.05858	0.997000	0.53966	0.972000	0.66771	-2.273000	0.01164	0.435000	0.26365	0.533000	0.62120	AAA	ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.358	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	-	0.00	61	0	A	NM_144689		37618622	+1	tier1	-	no_errors	ENST00000337995	ensembl	human	known	74_37	missense	30.38	55	24	SNP	0.223	C
ZNF420	147923	genome.wustl.edu	37	19	37619335	37619335	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:37619335G>T	ENST00000337995.3	+	5	1657	c.1442G>T	c.(1441-1443)gGg>gTg	p.G481V	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGAATGTGGGAAATCTTTT	0.393																																																	0													71.0	64.0	66.0					19																	37619335		2203	4300	6503	SO:0001583	missense	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1442G>T	19.37:g.37619335G>T	ENSP00000338770:p.Gly481Val		B2RDY6|Q96ML5	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.G481V	ENST00000337995.3	37	c.1442	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283645	0.40394	.	.	ENSG00000197050	ENST00000337995	T	0.07444	3.19	3.51	2.46	0.29980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36580	0.0972	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41251	-0.9519	8	.	.	.	.	9.6687	0.40000	0.1075:0.0:0.8925:0.0	.	481	Q8TAQ5	ZN420_HUMAN	V	481	ENSP00000338770:G481V	.	G	+	2	0	ZNF420	42311175	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	4.792000	0.62467	0.700000	0.31782	-0.229000	0.12294	GGG	ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.393	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	-	0.00	70	0	G	NM_144689		37619335	+1	tier1	-	no_errors	ENST00000337995	ensembl	human	known	74_37	missense	27.10	78	29	SNP	0.991	T
ZNF454	285676	genome.wustl.edu	37	5	178392572	178392572	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:178392572T>A	ENST00000320129.3	+	5	1470	c.1167T>A	c.(1165-1167)tgT>tgA	p.C389*	ZNF454_ENST00000519564.1_Nonsense_Mutation_p.C389*	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GTAATGAATGTGGGAAAGCTT	0.418																																																	0													54.0	57.0	56.0					5																	178392572		2203	4300	6503	SO:0001587	stop_gained	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1167T>A	5.37:g.178392572T>A	ENSP00000326249:p.Cys389*		Q2M1P2|Q2M323	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.C389*	ENST00000320129.3	37	c.1167	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	T	38	6.849096	0.97885	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	.	.	.	4.07	2.89	0.33648	.	0.000000	0.44688	D	0.000423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9013	6.7723	0.23601	0.0:0.1266:0.0:0.8734	.	.	.	.	X	389	.	ENSP00000326249:C389X	C	+	3	2	ZNF454	178325178	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.647000	0.24812	0.715000	0.32103	0.454000	0.30748	TGT	ZNF454	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178187		0.418	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2		0.00	28	0	T	XM_209718		178392572	+1			no_errors	ENST00000320129	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	A
ZNF625	90589	genome.wustl.edu	37	19	12256139	12256139	+	Silent	SNP	C	C	T	rs115447016		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:12256139C>T	ENST00000355738.1	-	4	1243	c.894G>A	c.(892-894)tcG>tcA	p.S298S	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Silent_p.S298S|ZNF625_ENST00000439556.2_Silent_p.S364S|ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CTTGGCCTTTCGAAGTGTTGG	0.423																																																	0								C		3,4403	6.2+/-15.9	0,3,2200	98.0	91.0	94.0		1092	0.6	0.0	19	dbSNP_132	94	0,8600		0,0,4300	no	coding-synonymous	ZNF625	NM_145233.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		364/373	12256139	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.894G>A	19.37:g.12256139C>T			A4FU45|I3L0E9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S364	ENST00000355738.1	37	c.1092		19																																																																																			ZNF625	-	NULL	ENSG00000257591		0.423	ZNF625-201	KNOWN	basic	protein_coding	ZNF625	HGNC	protein_coding		-	0.00	108	0	C	NM_145233		12256139	-1	tier1	rs115447016	no_errors	ENST00000439556	ensembl	human	known	74_37	silent	64.20	29	52	SNP	0.038	T
ZNF607	84775	genome.wustl.edu	37	19	38190112	38190112	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:38190112T>G	ENST00000355202.4	-	5	1515	c.920A>C	c.(919-921)aAa>aCa	p.K307T	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.K306T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTCATAGGGTTTTTCTCCAGT	0.403																																																	0													93.0	95.0	94.0					19																	38190112		2203	4300	6503	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.920A>C	19.37:g.38190112T>G	ENSP00000347338:p.Lys307Thr		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	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.K307T	ENST00000355202.4	37	c.920	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338321	0.81911	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.24908	1.83;1.83	2.27	1.13	0.20643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50684	0.1630	M	0.88570	2.965	0.25826	N	0.984228	D;D	0.76494	0.987;0.999	D;D	0.77004	0.981;0.989	T	0.34477	-0.9827	9	0.87932	D	0	.	5.4774	0.16704	0.0:0.1777:0.0:0.8223	.	307;306	Q96SK3;F5H141	ZN607_HUMAN;.	T	307;306	ENSP00000347338:K307T;ENSP00000438015:K306T	ENSP00000347338:K307T	K	-	2	0	ZNF607	42881952	0.003000	0.15002	0.788000	0.31933	0.904000	0.53231	0.013000	0.13310	0.117000	0.18138	0.459000	0.35465	AAA	ZNF607	-	pfscan_Znf_C2H2	ENSG00000198182		0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	-	0.00	68	0	T	NM_032689		38190112	-1	tier1	-	no_errors	ENST00000355202	ensembl	human	known	74_37	missense	59.30	35	51	SNP	1.000	G
ZNF638	27332	genome.wustl.edu	37	2	71503810	71503810	+	3'UTR	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:71503810G>A	ENST00000410075.1	+	0	88							Q14966	ZN638_HUMAN	zinc finger protein 638						regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCACCCCGGCGGCAGCCCAGG	0.706																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000410075.1:c.*85G>A	2.37:g.71503810G>A			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	RNA	SNP	-	NULL	ENST00000410075.1	37	NULL		2																																																																																			ZNF638	-	-	ENSG00000075292		0.706	ZNF638-003	KNOWN	basic	processed_transcript	ZNF638	HGNC	protein_coding	OTTHUMT00000327432.2	-	0.00	10	0	G	NM_014497		71503810	+1	tier1	-	no_errors	ENST00000410075	ensembl	human	known	74_37	rna	80.00	1	4	SNP	0.003	A
ZNF676	163223	genome.wustl.edu	37	19	22363520	22363520	+	Silent	SNP	T	T	G	rs548029407		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:22363520T>G	ENST00000397121.2	-	3	1316	c.999A>C	c.(997-999)ggA>ggC	p.G333G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGGTTTCTCTCCAGCATGAA	0.403																																																	0													67.0	73.0	71.0					19																	22363520		2168	4273	6441	SO:0001819	synonymous_variant	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.999A>C	19.37:g.22363520T>G			A8MVX5	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G333	ENST00000397121.2	37	c.999	CCDS42539.1	19																																																																																			ZNF676	-	pfscan_Znf_C2H2	ENSG00000196109		0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0.00	96	0	T	NM_001001411		22363520	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	silent	17.28	67	14	SNP	0.998	G
ZNF676	163223	genome.wustl.edu	37	19	22363526	22363526	+	Silent	SNP	A	A	G			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:22363526A>G	ENST00000397121.2	-	3	1310	c.993T>C	c.(991-993)caT>caC	p.H331H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCTCCAGCATGAATTCTCT	0.403																																																	0													66.0	71.0	69.0					19																	22363526		2161	4273	6434	SO:0001819	synonymous_variant	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.993T>C	19.37:g.22363526A>G			A8MVX5	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H331	ENST00000397121.2	37	c.993	CCDS42539.1	19																																																																																			ZNF676	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0.00	102	0	A	NM_001001411		22363526	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	silent	17.28	67	14	SNP	1.000	G
ZNF721	170960	genome.wustl.edu	37	4	437306	437306	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:437306G>T	ENST00000338977.5	-	2	962	c.914C>A	c.(913-915)tCc>tAc	p.S305Y	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.S317Y|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGGTTTGCGGACTGTCTAAA	0.403																																																	0													79.0	86.0	84.0					4																	437306		2096	4242	6338	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.914C>A	4.37:g.437306G>T	ENSP00000340524:p.Ser305Tyr		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S317Y	ENST00000338977.5	37	c.950		4	.	.	.	.	.	.	.	.	.	.	G	5.544	0.285299	0.10513	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.10668	2.85;2.85	0.75	-0.645	0.11475	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20861	0.0502	L	0.61387	1.9	0.09310	N	1	D;D;D	0.60160	0.987;0.964;0.979	P;P;D	0.67900	0.901;0.901;0.954	T	0.16600	-1.0397	9	0.26408	T	0.33	.	5.2774	0.15657	0.0:0.0:0.6676:0.3323	.	305;317;317	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	Y	305;317	ENSP00000340524:S305Y;ENSP00000428878:S317Y	ENSP00000340524:S305Y	S	-	2	0	ZNF721	427306	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.686000	0.05161	-0.268000	0.09312	0.205000	0.17691	TCC	ZNF721	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	-	0.00	83	0	G	NM_133474		437306	-1	tier1	-	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.000	T
ZNF800	168850	genome.wustl.edu	37	7	127013999	127013999	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:127013999G>A	ENST00000393313.1	-	5	1982	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.S464L|ZNF800_ENST00000393312.1_Missense_Mutation_p.S464L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	464					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ACCTGCAGCCGACGGACTAGT	0.383																																																	0													72.0	73.0	73.0					7																	127013999		2203	4300	6503	SO:0001583	missense	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1391C>T	7.37:g.127013999G>A	ENSP00000376989:p.Ser464Leu		Q9HBN0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S464L	ENST00000393313.1	37	c.1391	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307790	0.23821	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.15603	2.41;2.41;2.41	5.54	3.62	0.41486	.	0.678564	0.13486	N	0.384336	T	0.07999	0.0200	N	0.08118	0	0.33306	D	0.565482	B;B	0.19331	0.035;0.035	B;B	0.15052	0.012;0.012	T	0.20207	-1.0282	8	.	.	.	0.4249	8.0127	0.30363	0.0808:0.0:0.7615:0.1577	.	367;464	B7Z4V7;Q2TB10	.;ZN800_HUMAN	L	464	ENSP00000376989:S464L;ENSP00000265827:S464L;ENSP00000376988:S464L	.	S	-	2	0	ZNF800	126801235	1.000000	0.71417	0.975000	0.42487	0.964000	0.63967	2.456000	0.44997	1.475000	0.48197	0.591000	0.81541	TCG	ZNF800	-	NULL	ENSG00000048405		0.383	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	-	0.00	47	0	G	NM_176814		127013999	-1	tier1	-	no_errors	ENST00000265827	ensembl	human	known	74_37	missense	24.32	28	9	SNP	0.991	A
ZNF804A	91752	genome.wustl.edu	37	2	185801997	185801997	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:185801997G>T	ENST00000302277.6	+	4	2468	c.1874G>T	c.(1873-1875)aGt>aTt	p.S625I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	625							metal ion binding (GO:0046872)	p.S625T(1)		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						GCAGAGAATAGTTACACTGAA	0.328																																																	1	Substitution - Missense(1)	lung(1)											94.0	103.0	100.0					2																	185801997		2203	4298	6501	SO:0001583	missense	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.1874G>T	2.37:g.185801997G>T	ENSP00000303252:p.Ser625Ile		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S625I	ENST00000302277.6	37	c.1874	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	2.277	-0.365565	0.05069	.	.	ENSG00000170396	ENST00000302277	T	0.06449	3.3	5.51	-3.94	0.04130	.	0.602886	0.15897	N	0.239263	T	0.04318	0.0119	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32771	-0.9894	10	0.51188	T	0.08	-0.0492	2.5258	0.04691	0.3086:0.2918:0.302:0.0976	.	625	Q7Z570	Z804A_HUMAN	I	625	ENSP00000303252:S625I	ENSP00000303252:S625I	S	+	2	0	ZNF804A	185510242	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.160000	0.16462	-0.537000	0.06290	-0.962000	0.02626	AGT	ZNF804A	-	NULL	ENSG00000170396		0.328	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0.00	55	0	G	NM_194250		185801997	+1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.000	T
ZNF850	342892	genome.wustl.edu	37	19	37239048	37239048	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:37239048C>T	ENST00000591344.1	-	5	3052	c.2894G>A	c.(2893-2895)cGt>cAt	p.R965H	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	965					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAGGTGTGTACGCTGTCTGAA	0.428																																																	0																																										SO:0001583	missense	0			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.2894G>A	19.37:g.37239048C>T	ENSP00000464976:p.Arg965His			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.R965H	ENST00000591344.1	37	c.2894	CCDS59379.1	19																																																																																			ZNF850	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267041		0.428	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF850	HGNC	protein_coding	OTTHUMT00000453557.1	-	0.00	61	0	C	XM_001720258		37239048	-1	tier1	-	no_errors	ENST00000591344	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T
ZNF891	101060200	genome.wustl.edu	37	12	133698247	133698247	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:133698247C>A	ENST00000537226.1	-	2	610	c.258G>T	c.(256-258)ttG>ttT	p.L86F	ZNF891_ENST00000397313.2_Missense_Mutation_p.L86F|CTD-2140B24.6_ENST00000606110.1_RNA	NM_001277291.1	NP_001264220.1	A8MT65	ZN891_HUMAN	zinc finger protein 891	86	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)			breast(1)	1						TAAGCCTGTACAACTGATATT	0.428																																																	0																																										SO:0001583	missense	0				CCDS59238.1	12q24.33	2014-01-23			ENSG00000214029	ENSG00000214029		"""Zinc fingers, C2H2-type"", ""-"""	38709	protein-coding gene	gene with protein product							Standard	NM_001277291		Approved		uc031qkm.1	A8MT65	OTTHUMG00000167943	ENST00000537226.1:c.258G>T	12.37:g.133698247C>A	ENSP00000437590:p.Leu86Phe			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.L86F	ENST00000537226.1	37	c.258	CCDS59238.1	12	.	.	.	.	.	.	.	.	.	.	C	7.168	0.587043	0.13749	.	.	ENSG00000214029	ENST00000537226;ENST00000397313	T;T	0.00840	5.63;5.63	3.49	-0.458	0.12182	.	.	.	.	.	T	0.00845	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	T	0.44907	-0.9297	5	0.31617	T	0.26	.	3.1808	0.06584	0.1823:0.2427:0.0:0.575	.	.	.	.	F	86	ENSP00000437590:L86F;ENSP00000380480:L86F	ENSP00000380480:L86F	L	-	3	2	ZNF891	132208320	0.027000	0.19231	0.001000	0.08648	0.021000	0.10359	-0.060000	0.11712	0.116000	0.18110	-0.312000	0.09012	TTG	ZNF891	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000214029		0.428	ZNF891-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF891	HGNC	protein_coding	OTTHUMT00000397179.1	-	0.00	87	0	C			133698247	-1	tier1	-	no_errors	ENST00000397313	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.000	A
ZNRF4	148066	genome.wustl.edu	37	19	5455606	5455606	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:5455606C>T	ENST00000222033.4	+	1	181	c.104C>T	c.(103-105)tCg>tTg	p.S35L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	35						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAACTGCCCTCGCGTCCTGGC	0.667																																																	0													38.0	45.0	43.0					19																	5455606		2077	4194	6271	SO:0001583	missense	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.104C>T	19.37:g.5455606C>T	ENSP00000222033:p.Ser35Leu		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S35L	ENST00000222033.4	37	c.104	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583077	0.13749	.	.	ENSG00000105428	ENST00000222033	T	0.03951	3.75	2.25	1.18	0.20946	.	.	.	.	.	T	0.02610	0.0079	L	0.27053	0.805	0.09310	N	1	P	0.41102	0.738	B	0.16289	0.015	T	0.45220	-0.9276	9	0.72032	D	0.01	.	6.8486	0.24003	0.0:0.7089:0.2911:0.0	.	35	Q8WWF5	ZNRF4_HUMAN	L	35	ENSP00000222033:S35L	ENSP00000222033:S35L	S	+	2	0	ZNRF4	5406606	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.039000	0.12124	0.503000	0.28060	-0.802000	0.03209	TCG	ZNRF4	-	NULL	ENSG00000105428		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	-	0.00	85	0	C	NM_181710		5455606	+1	tier1	-	no_errors	ENST00000222033	ensembl	human	known	74_37	missense	60.00	18	27	SNP	0.001	T
ZSCAN1	284312	genome.wustl.edu	37	19	58551837	58551837	+	Silent	SNP	G	G	A	rs143428215		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:58551837G>A	ENST00000282326.1	+	4	637	c.390G>A	c.(388-390)tcG>tcA	p.S130S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	130					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCTGGACTCGGTCGAACCCC	0.612																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	115.0	126.0	122.0		390	-1.6	0.1	19	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	ZSCAN1	NM_182572.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		130/409	58551837	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.390G>A	19.37:g.58551837G>A			Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S130	ENST00000282326.1	37	c.390	CCDS12969.1	19																																																																																			ZSCAN1	-	smart_Tscrpt_reg_SCAN	ENSG00000152467		0.612	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0.00	73	0	G	NM_182572		58551837	+1	tier1	rs143428215	no_errors	ENST00000282326	ensembl	human	known	74_37	silent	19.82	89	22	SNP	0.088	A
ZSCAN1	284312	genome.wustl.edu	37	19	58565407	58565407	+	Silent	SNP	C	C	T			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:58565407C>T	ENST00000282326.1	+	6	1462	c.1215C>T	c.(1213-1215)caC>caT	p.H405H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	405					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACACGGCCCACGGCCACATGT	0.677																																																	0													18.0	19.0	18.0					19																	58565407		2196	4297	6493	SO:0001819	synonymous_variant	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1215C>T	19.37:g.58565407C>T			Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H405	ENST00000282326.1	37	c.1215	CCDS12969.1	19																																																																																			ZSCAN1	-	pfscan_Znf_C2H2	ENSG00000152467		0.677	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0.00	44	0	C	NM_182572		58565407	+1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	silent	26.42	39	14	SNP	0.022	T
ZSCAN9	7746	genome.wustl.edu	37	6	28200715	28200715	+	Missense_Mutation	SNP	G	G	T	rs200626964		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:28200715G>T	ENST00000252207.5	+	4	1092	c.944G>T	c.(943-945)tGt>tTt	p.C315F	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.C315F|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.C366F	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	315					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)										TGCAAGGAGTGTGGGAAGGTC	0.458																																																	0													94.0	95.0	95.0					6																	28200715		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.944G>T	6.37:g.28200715G>T	ENSP00000252207:p.Cys315Phe		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.C315F	ENST00000252207.5	37	c.944	CCDS4646.1	6	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586317	0.86851	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	T;T;T;D	0.99974	1.1;1.1;1.1;-10.2	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.99981	0.9994	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66497	0.944;0.944	D	0.96949	0.9693	9	0.87932	D	0	.	15.7893	0.78343	0.0:0.0:1.0:0.0	.	366;315	E7EVQ2;O15535	.;ZN193_HUMAN	F	366;315;315;344	ENSP00000404074:C366F;ENSP00000252207:C315F;ENSP00000433402:C315F;ENSP00000436166:C344F	ENSP00000252207:C315F	C	+	2	0	ZNF193	28308694	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.345000	0.97053	2.311000	0.77944	0.563000	0.77884	TGT	ZSCAN9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000137185		0.458	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZSCAN9	HGNC	protein_coding	OTTHUMT00000040183.2	-	0.00	41	0	G	NM_006299		28200715	+1	tier1	-	no_errors	ENST00000252207	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	T
